Atlas Neonatology

An Atlas of
NEONATOLOGY
Medical care should be humane, and painless;
ideally promotive, preferably preventive, desirably
curative, at times rehabilitative and always
reassuring and consoling
ML Kulkarni
An Atlas of
NEONATOLOGY
ML Kulkarni
MD (Ped), FIAP, FAMS, FIMSA, FRCPCH (UK), FCPCC (LON),
FICP (USA), PhD (Gen. Anthr.), MNAS (NY)
Professor and Head

Department of Pediatrics
JJM Medical College
Devangere, Karnataka
Editorial Assistants
KS Keshavamurthy
P Rajappan Pillai
Preethi M Kulkarni
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An Atlas of Neonatology
2005, ML Kulkarni
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted
in any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior
written permission of the author and the publisher.
This book has been published in good faith that the material provided by author is original. Every effort is made
to ensure accuracy of material, but the publisher, printer and author will not be held responsible for any
inadvertent error(s). In case of any dispute, all legal matters to be settled under Delhi jurisdiction only.
First Edition: 2005
ISBN
81-8061-518-9
Typeset at JPBMP typesetting unit

Printed at Ajanta Offset
Dedicated to
My parents
Late Sri Laxmanrao B Kulkarni
and
Late Smt Sharadabai L Kulkarni
who are with God
Preface
The value of a picture cannot be underestimated. The popular sayings like a picture is worth thousand words
and seeing is believing are the testimony for it. Unlike in textual material, the pictures in an atlas hardly need
updating. Older the picture, more value it has like an old wine and an old friendship. Further, very old pictures
may even attain antique values and deserve to be only preserved and protected.
At one end, a collection of only pictures makes an attractive album. Whereas, at the other extreme, a long
text results in monotonous monogram. In an atlas, a blend of believing beauty of a picture and authentic
account of the text give it a unique place in educational tools. It is the general tendency of an average student
to skip reading of pictures and tables, when reading a textbook not realizing their importance. In an atlas, the
very name invites or may even compel the student to read the picture. This we feel is a special advantage of
possessing and reading an atlas, especially in a subject like neonatology, where few atlases are available.
Neonatology is a speciality with a large visual content in it. Some topics like congenital malformation,
dysmorphic syndromes, birth injuries, normal variants in newborn, physical characters of preterm and small for
date babies are largely visual. Whereas, topics like neonatal sepsis, congenital heart diseases etc have less visual
content. To overcome this problem we have incorporated few line diagrams, flow charts and tables to emphasize
the content. More than one photograph of the same condition (of course from different patients) is given in
chapters on congenital malformations and genetic syndromes to help the reader to develop better mental picture.
ML Kulkarni
Acknowledgements
Several postgraduates who have intellectually-interacted with me over the last 29 years need special
acknowledgement. Shri JP Vij, Chairman and Managing Director of Jaypee Brothers Medical Publishers (P) Ltd,
New Delhi who mooted the idea of producing the Atlas of Neonatology and his team for the excellent work.
I also thank the following postgraduate students who helped in the preparation of this book.
(Drs) Sarfraz Navaz, Anuj Sehegal, Prem Alva, Abdul Manaf, AS Savadi, Chidanada, Apporva, Mayi Gowda,
Ram Gopal Shastri, Shankar, Zaheerudin Mohamed, Anant Gupta, Thippeswamy, Nagendra, Naveen, Jaggannath,
Girish Hadli, Anoop Damodar, Vani, Praveen Prabhu and Sredhar.
Contents
1. Nomenclature ....................................................................................................................... 1
2. Labor Room Procedures ....................................................................................................... 4
3. NALS .................................................................................................................................... 8
4. Routine Care of the Newborn ............................................................................................. 16
5. Neonatal Immunization ....................................................................................................... 22
6. Traditional Practices .......................................................................................................... 27
7. Physical Examination of the Newborn ................................................................................ 31
8. Normal Variants ................................................................................................................. 43
9. Stool Cycle in Newborn ..................................................................................................... 52
10. Neonatal Reflexes .............................................................................................................. 54
11. Gestational Age Assessment .............................................................................................. 59
12. Anthropometry .................................................................................................................... 67
13. Classification of Newborns and Problems of Low Birth Weight ........................................ 80
14. Clinical Assessment of Nutrition Status (CANS) at Birth .................................................. 84
15. Feeding of Newborns.......................................................................................................... 89
16. Neonatal Jaundice ............................................................................................................ 102
17. Birth Injuries .................................................................................................................... 114
18. Neonatal Sepsis ............................................................................................................... 125
19. Common Neonatal Infections ........................................................................................... 128
20. Intrauterine Infections ...................................................................................................... 135
21. Perinatal HIV Infection ..................................................................................................... 140
22. Hypoxic Ischemic Encephalopathy ................................................................................... 148
xii
23. Problems of Temperature Regulation ............................................................................... 150

24. Neonatal Convulsions ....................................................................................................... 155
25. Bleeding Neonate ............................................................................................................. 160
26. Infants of Diabetic Mothers .............................................................................................. 163
27. Neonatal Anemia .............................................................................................................. 166
28. Respiratory Distress ......................................................................................................... 171
29. Congenital Heart Disease ................................................................................................ 176
30. Twins ................................................................................................................................ 182
31. Examination of Placenta ................................................................................................... 191
32. Congenital Malformations ................................................................................................ 200
33. Genetic Syndromes .......................................................................................................... 266
Appendices ....................................................................................................................... 351
Index .................................................................................................................................................... 385
Nomenclature
Understanding of proper, and uniform nomenclature

is important in classifying newborns, in anticipating
problems, for demographic purpose, and interpersonal
communication. Below we describe commonly used
terms in neonatal/perinatal practice.
Live Birth
Live birth is complete expulsion or extraction of products
of conception from its mother irrespective of duration
of pregnancy, which after such separation, breathes or
shows any other evidence of life, such as beating of heart,
pulsation of the umbilical cord, definite movement of
voluntary muscles, whether or not the umbilical cord
has been cut or the placenta is attached.
Fetal Death
Early fetal death (abortion): Death of a fetus having
birth weight of less than 500 g, or gestation of less than
22 weeks, or crown-heel length less than 25 cm.
Intermediate fetal death (abortion): Death of fetus
having birth weight between 501 and 1000 g, or
gestation between 22 and 28 weeks, or crown-heel
length between 25 and 35 cm.
Stillbirth (late fetal death): Death of a fetus having birth
weight of 1000 g, gestation of more than 28 weeks,
or crown-heel length of more than 35 cm.
The terms birth weight and gestation are defined
later.
Perinatal period: The perinatal period is most often
defined as a period from 28 weeks of gestation through
the 7th day after birthWHO. Other additional

definitions include:
1. 20 weeks of gestation to 7 days after birth,
2. 20 weeks of gestation to 28 days of life.
Neonatal period: The neonatal period is defined as
less than 28 days of life and it may be subdivided into
period 1 (Birth to <24 hours), period 2 (24 hours to
<7 days), and period 3 (7 to 28 days).
Birth Weight Groups
Low birth weight (LBW)birth weight less than
2500 g.
High-risk low birth weight (HRLBW)birth weight
less than 2000 g.
Very low birth weight (VLBW)birth weight less
than 1500 g.
Extremely low birth weight (ELBW)less than 1000 g.
Gestational Age
The duration of gestation is measured from the first day
of the last menstrual period (LMP). Gestational age is
expressed in completed days or completed weeks.
Gestational Groups
Pretermless than 37 completed weeks or less than
259 days.
Termfrom 37 completed weeks to less than
42 completed weeks or 259 to 294 days.
Posttermmore than 42 completed weeks or more
than 295 days.
Birth Weight/Gestational Age Group

Small-for-gestational age (SGA)Babies with a
birth weight of less than 10th percentile for that period
of gestation.
Table 1.2: Categories of causes of perinatal death

Maternal
Fetal
Maternal age
<18> 35 yrs
Prematurity Birth injuries
Large-for-gestational age (LGA)Babies with a

birth weight greater than 90th percentile for that period
of gestation.
High parity
SGA
Asphyxia
Maternal anemia
Twins
Infections including tetanus
Toxemia
Congenital malformations
Adequate-for-gestational age (AGA)Babies with

a birth weight between 10th and 90th percentile for
that period of gestation.
Poor spacing
Hypothermia
Perinatal Period
From 28 weeks of gestation to first 7 completed days
(168 hours) of life.
Neonatal Period
First 28 days of life. Early neonatal period refers to the
first 7 days (168 hours) of life, while late neonatal
period signifies the period from more than 7 days to
28 days of life.
Perinatal Mortality Rate (PMR)
Perinatal mortality rate (PMR) is defined as late fetal plus
early neonatal (first week) deaths of babies weighing
more than 1000 g (or 28th weeks of gestation or more)
at birth per 1000 total births weighing over 1000 g.
Important causes are listed in Table 1.1.
Stillbirths (>1000 g) + early
neonatal deaths (>1000 g)
Perinatal = 1000
mortality rate Total births weighing >1000 g
Table 1.1: Causes of perinatal mortality and their
percentage
Causes of death
Asphyxia
Prematurity, low birth weight
Septicemia
Respiratory distress syndrome
Anemia
Birth trauma
Multiple factors
Undetermined
Percentage
41.6
17.9
6.7
2.4
2.2
1.5
1.2
11.0
15.5
Source: Ministry of Health and Family Welfare, Govt. of India,

1983.
Infants
Prediabetes or
diabetes
Present perinatal mortality is 44.3 per 1000 births (1993)
(Shanti Ghosh) and is 3-4 times more in LBW babies.
Extended Perinatal Mortality Rate

Extended PMR is defined as late fetal plus early
neonatal deaths weighing more than 500 g at birth per
1000 total births weighing over 500 g
Stillbirths (>500 g) + early neonatal
death (>500 g)
Extended = 1000
perinatal
Total births weighing >500 g
mortality rate
Neonatal Mortality Rate (NMR)

Neonatal mortality rate (NMR) is defined as neonatal
deaths of babies weighing more than 1000 g at birth
per 1000 live born infants weighing over 1000 g.
Importance of NMR is that it accounts for 60 percent
of infant mortality (Table 1.3).
Neonatal deaths weighing
>1000 g at birth
Neonatal = 1000
mortality rate Live born infants weighing
>1000 g
(Present status, 1991, NMR: 51.1)
Table 1.3: Causes of neonatal mortality
Immaturity
Birth asphyxia
Infections
Others like birth trauma
Extended Neonatal Mortality Rate

The extended neonatal mortality rate can be calculated
by including babies weighing up to 500 g or more at
Nomenclature
birth per 1000 live born infants weighing 500 g or

more.
Neonatal deaths weighing
>500 g at birth
Extended = 1000
neonatal
Live born infants weighing
mortality rate
>500 g
Infant Mortality Rate (IMR)

Infant mortality rate is the ratio of deaths under 1 year
of age in a given year to the total number of live births
in the same year, usually expressed as a rate per 1000
live births. Present rate is 74/1000.
No. of children dying under
1 year of age
Infant =
1000
mortality rate
Total No. of live births
(Source: 1994 Sample Registration System, Registrar General,
Govt. of India).
Causes
Fig. 1.1: Graphical representation of neonatal terminologies
1.
2.
3.
4.
ARI.
Diarrhea.
Under nutrition.
Infections.
Labor Room Procedures
Transition from fetal physiology to a neonatal one is

an important event that determines well-being of a
newborn infant. Most babies have this transition
without any problem. Some unfortunate ones may
have difficulty in needing assistance for intact survival.
In some other, immediate attention may contribute for
better survival. The initial assessment includes helping
the baby to adjust to new environment after proper
assessment. The following description is confined to
normal term baby with vertex presentation. Further
related information is given in Chapters 3 and 4.
STEPS
1. Head is the first part to be delivered in vertex
presentation. Immediately after head is born,
finger should be slipped in to detect presence of
cord round the neck. If a loop of cord is found
it should be either slipped over the head or cut
between clamps (Figs 2.1a to c).
Fig. 2.1a: Head delivery in vertex presentation
Fig. 2.1b: Cord round the neck. Note three loops of cord
around the neck. Twisted cord is also seen
Fig. 2.1c: Loop of cord around neck, slipped over the head
Labor Room Procedures 5
Fig. 2.2: Suctioning of the mouth after delivery
2. Suctioning: To minimize the risk of aspiration of

amniotic fluid, meconium or blood, nose and
mouth should be suctioned immediately after the
delivery of head before the baby takes its first
birth. This step is extremely important in preventing aspiration of meconium and its complications.
Care should be taken to clear mouth first followed
by nose. This is because if nose is suctioned first
suctioning acts as a strong stimulus to initiate
breathing and results in aspiration of throat
secretions (This can be remembered as M comes
before N in alphabets) (Fig. 2.2).
3. Cutting the cord: The umbilical cord is cut between
2 clamps placed 4 or 5 cm from the babys
abdomen. After this the baby is handed over to
the neonatologist (Fig. 2.3).
Fig. 2.3: Cutting the cord. Note cord being cut in between
the clamps
Fig. 2.4: Drying the baby under 200 watt bulb
4. Initial steps of resuscitation: Immediately after

receiving, the baby should be dried using prewarmed clothes under a radiant warmer. After
this, baby is assessed for respiration, heart rate and
other vital signs. If found stable it is proceeded
further or else it should be resuscitated. Further
details about this are given in Chapter 3 (Fig. 2.4).
5. Clamping the cord: Clamp is applied 2 or 3 cm
from the babys abdomen. Usually a plastic clamps
with double grip is used, other methods of clamping
are using thread or rubber band (Fig. 2.5).
6. Tying the identif y band: This is an equally
important step. As soon as the baby is stabilized,
name band containing mothers name, time and
date of birth should be tied to the wrist or ankle
(Fig. 2.6).
7. Eye care: Eye should be wiped using sterile wet
swabs. Care should be taken to use separate swab
for each eye. Some centres follow prophylactic
instillation of antibiotic preparation routinely (Fig.
2.7).
8. Weighing the baby: Babies should be weighed as
soon as convenient and weight should be properly
recorded, excessive chilling should be avoided
while weighing (Fig. 2.8).
9. Vitamin K injection: Though controversial, Vitamin
K. injection is routinely administered to all babies
to prevent hemorrhagic disease of newborn. Site
of injection is anterolateral part of thigh into the
vastus lateralis muscle (Fig. 2.9).
Fig. 2.8: Weighing the baby

Fig. 2.5: Clamping the cord. Note plastic clamp applied
2-3 cm from umbilicus
10. Rooming in: As soon as mothers condition

permits baby should be roomed in. This has a
great value in developing bonding and promoting
breastfeeding, and avoids problems related to
breastfeeding (Fig. 2.10).
Apgar Score
Apgar score is a scoring system providing a gross,
quantitative expression of the babys condition at birth.
Fig. 2.6: Tying the identity
Fig. 2.9: Administration of vitamin K. Note injection being

given to anterolateral thigh (vastus lateralis)
Fig. 2.7: Wiping of the eye
This scoring system was introduced by the anesthetist

Virginea Apgar in 1953.
Apgar scores are taken at 1 minute and 5 minutes.
One minute Apgar score indicates cardiorespiratory
adjustments to extrauterine life, and 5 minute Apgar
Labor Room Procedures 7

Based on the 1 minute Apgar score, babies are
categorized as:
Score of 0-3Severe birth asphyxia
Score of 4-6Moderate birth asphyxia
Score of 7-10No birth asphyxia
2. Babies with moderate birth asphyxia may be shifted
to mother and observed there.
3. Babies with severe asphyxia need care in NICU
(neonatal intensive care unit).
Limitations
Fig. 2.10: Bedding in
score indicates possible prognosis. However, the

extended Apgar score recorded 20 minutes after birth
has much better specificity for the prediction of both
early death and disability (Table 2.1).
INTERPRETATION
1. Apgar scores are used to assess the severity of birth
asphyxia at birth. It helps in planning management
after the resuscitation is accomplished.
1. Apgar scores have no utility in deciding steps of

resuscitation in the labor room.
2. They do not give any clue for future neurological
outcome, which limits their usefulness for epidemiological studies.
Causes other than Birth Asphyxia for
a Low Apgar Score
1. Healthy premature infants, due to immature
nervous system.
2. Nasopharyngeal suction.
3. Maternal drugs.
4. Anesthesia.
5. Sepsis.
Table 2.1: Apgars evaluation of newborn

Sign
Heart rate
Respiratory effort
Muscle tone
Respons to catheter in
nostril
Color
Absent
Absent
Limp
No response
Below 100
Slow, irregular
Some flexion of extremities
Grimace
Over 100
Good crying
Active motion
Cough or sneeze
Blue pale
Body pink, blue extremities
Completely pink
A total score of 10 indicates that an infant is in the best possible condition. An infant with a score of 0 to 3 requires immediate
resuscitation.
NALS
Immediately after birth the transition from fetal to

neonatal physiology occurs smoothly in most of the
newborns. However, in 6 to 10 percent of infants, a
number of adverse fetal and maternal conditions
interfere in this smooth transition. These infants require
resuscitative efforts in the delivery room which when
correctly carried out, are very effective and have a high
success rate. Newborn resuscitation follows the basic
principle of ABC, i.e. airway patency, breathing, and
maintaining circulation. The ten steps involved in it are
listed inside the inverted pyramid to emphasize that the

number of babies requiring each subsequent step goes
on decreasing (Fig. 3.1).
BEING PREPARED FOR RESUSCITATION

ANTICIPATION
Anticipation
Though it is not possible to predict neonatal asphyxia
in all babies, certain antepartum and intrapartum
Fig. 3.1: Steps in neonatal advanced life-support inverted pyramid concept
NALS
factors are well known to be associated with it.
The attending pediatrician should carefully review
antepartum and intrapartum history before hand.
Preparation for high-risk delivery is often the key to a
successful outcome. Co-operation between the obstetric
staff and pediatric staff is important.
The problem can be anticipated before birth in the
following situations.
5. IUGR (intrauterine growth retardation).

6. Fetal distress.
Signs of Antenatal Fetal Distress
1.
2.
3.
4.
Abnormal variations in fetal heart rate or rhythm.

Passage of meconium into liquor amnii.
ECG changes in fetal monitoring records.
Changes in fetal blood pH and gases on fetal blood
samples.
Maternal Factors
1. Maternal age <16 years or >30 years.
2. Maternal illnesses like preeclamptic toxemia (PET),
rheumatic heart disease (RHD), diabetes mellitus,
renal diseases, maternal hypotension, antepartum
hemorrhage (APH), severe anemia and infections.
3. Sedatives, analgesics or general anesthesia given to
mother in the preceding few hours.
4. Maternal drug/alcohol abuse.
5. Placental insufficiencytoxemia, postmaturity.
6. Obstetric disorders like Rh disease, antepartum
hemorrhage (APH), polyhydramnios, oligohydramnios and PET.
7. Abnormal presentations, cord prolapse, prolonged
rupture of membranes.
8. Precipitate labor.
9. Obstetric procedures like lower-segment cesarean
section (LSCS), forceps delivery.
Fetal Factors
1.
2.
3.
4.
Preterm birth.
LBW babies.
Multiple pregnancy.
Ultrasound evidence of fetal anomalies.
Equipment (Table 3.2)

All the equipment listed below should be readily
available in the delivery room. They should be tested
before each delivery.
PREVENTION OF HEAT LOSS (Fig. 3.3)

Newborn infants do not tolerate cold environment,
especially those depressed at birth. This cold stress
increases oxygen requirement and acidosis. This can be
prevented by:
Placing the infant under preheated warmer.
If warmer is not available, 200 Watt bulbs can be
used.
When bulbs are used, they should be kept on 20
minutes before.
Rapid drying with preheated clothes.
Removing wet linens after drying.
Wrapping the baby with fresh warm sheets.
POSITIONING (Fig. 3.4)

As soon as the infant is dried, position the baby supine
with neck slightly extended by keeping a rolled towel
Table 3.1: Some high-risk situations for which resuscitation may be anticipated
High-risk situation
Primary intervention
Preterm delivery
Thick meconium
Maternal hemorrhage
Use of narcotics in labor
Hydrops fetalis
Polyhydramnios,gastrointestinal obstruction
Oligohydramnios, pulmonary hypoplasia
Maternal infection
Maternal diabetes
Intubation, lung expansion

Endotracheal suction
Volume expansion
Administration of naloxone
Intubation,paracentesis, or thoracocentesis
Nasogastric suction
Intubation: careful lung expansion
Administration of antibiotics
Early glucose administration
10
Table 3.2: Equipments for neonatal resuscitation
Suction equipment:
Bulb syringe
Mechanical suction
Suction catheters (5 or 6), 8, 10 Fr.
8 Fr feeding tube and 20 cc syringe.
Meconium aspirator
Bag and Mask Equipment (Fig. 3.2a)
Laryngoscope with straight blades (Fig. 3.2b)
No. 0 and No. 1
Extra bulbs and batteries for layngoscope
Endotracheal tubessizes 2.5, 3, 3.5, 4 mm (Fig 3.2c)
Stylet
Scissors
Gloves
Medications
Epinephrine 1:10,000
Naloxone
Volume expander:
Normal saline,
Ringer lactate,
5% Albumin solution
Sodium bicarbonate
10% dextrose
Radiant warmer
Stethoscope
Syringes
Adhesive tapes
Umbilical catheters 3, 5 Fr
Needles 25, 21, 18 G
Fig. 3.2b: Laryngoscope with straight blades
Modified and adapted from the American Heart Association/

American Academy of Pediatrics. Textbook of Neonatal
Resuscitation Dallas 1994.
Fig. 3.2c: Endotracheal tubes
SUCTIONING THE AIRWAY (Figs 3.5a and b)
Fig. 3.2a: Bag and mask equipment
under the shoulders in sniffing position Avoid hyperextension and hyperflexion.
Clear the airway off any secretion by suctioning mouth

first, and then, nose using a bulb syringe or suction
catheter. Negative pressure used to suction should not
exceed100 mm Hg. Recent NALS does not recommend routine suctioning in healthy and vigorously
crying babies. However,in preterms,LBW, born by
cesarean section, asphyxiated it is indicated.
Remember in English alphabet, M comes before N.
NALS
11
Fig. 3.5a: Suctioning the mouth first
Fig. 3.3: Drying the baby
Fig. 3.4: Positioning the baby with neck in slight extension
TACTILE STIMULATION (Fig. 3.6)

For most newborns, drying and suctioning are enough
to act as stimulation to initiate respiration. If not, tactile
stimulation should be given by either flicking the soles
or rubbing the back. The whole process of drying,
Fig. 3.5b: Suctioning the nose next
positioning, suctioning, and giving tactile stimulation

should not take more than 20-30 seconds.
OXYGEN
After the 5th step, evaluate the infants respiration and
heart rate if ventilation is adequate and the heart rate
is above 100 beats/min, but there is central cyanosis,
give 100 percent free flow oxygen by tube or mask.
BAG AND MASK VENTILATION (Fig. 3.7)
Fig. 3.6: Giving tactile stimulation by flicking the sole
Positive pressure ventilation (PPV) using bag and mask

is indicated if there is failure to establish spontaneous
breathing or heart rate is less than 100 beats/min. A selfinflating bag must be used with an oxygen source and
reservoir to deliver a high concentration of oxygen.
Adequacy of ventilation by bag and mask must be
checked by noting effective chest expansion and
improvement in color and heart rate.
12
seconds) is less than 60 beats/min or between 60 and
80 beats/min and not increasing. Since bradycardia is
usually a result of hypoxemia, chest compressions
should always be performed in conjunction with PPV
at a ratio of 3:1 with 120 compressions and 40 breaths/
min. Two techniques are used to give chest compressions: two fingers technique and two thumb technique
as shown in the figure.
ENDOTRACHEAL INTUBATION (Fig. 3.9)

Fig. 3.7: Bag and mask ventilation
Remember: IndicationsNo spontaneous breathing,

Heart rate <100.
Contraindications: Thick meconium, congenital
diaphragmatic hernia.
Endotracheal intubation is indicated when prolonged

PPV is required, or bag and mask ventilation is not
effective. Apart from these, there are certain situations
where intubation should not be done with bag and
mask ventilation. They are thick meconium stained
infants, and congenital diaphragmatic hernia.
CHEST COMPRESSION (Figs 3.8a and b)

Chest compression should be given following 30
seconds of PPV if the heart rate (by auscultation for 6
Fig. 3.9: Endotracheal intubation
Choice of ET Tube
Based on the weight of the infant the ET tube is selected
as follows.
Fig. 3.8a: Giving chest compression
Weight
Tube size
<1000 gm
2.5
1000-2000 gm
3.0
2000-3000 gm
3.5
>3000 gm
4.0
Rough guide for selection of ET tube-Size of infants little

finger.
Choice of Laryngoscope Straight Blade

Fig. 3.8b: Two techniques of giving chest compression
No. 0 for preterm infants

No. 1 for term infants.
NALS
13
Table 3.3: Medications used in NALS

Drug
Indication
Dosage
Route
Epinephrine (1:10,000)
Volume expander
(Normal saline or Ringer lactate)
Sodium bicarbonate
10% dextrose
Naloxone
H.R. <60 bpm or asystole

Evidence of blood loss
0.1 ml-0.3 ml/kg

10 ml/kg
IV or ET
IV
Documented acidosis
Documented hypoglycemia
Maternal narcotic analgesia
2 mEq/kg
2 ml/kg
0.1 mg/Kg
IV
IV
IV, ET, IM, SC
Note: IVIntravenous, ETEndotracheal tube, IMIntramuscular, SCSubcutaneous
Medications
Administration of medications is rarely needed in
neonatal resuscitation. Indications for use of medication
is heart rate remaining less than 60 beats/min, despite
adequate ventilation with 100 percent oxygen and chest
compression.
The list of medications, dosage, route and indications
are given in Table 3.3.
RESUSCITATION IN SPECIAL
SITUATIONS
Meconium Stained Amniotic Fluid (MSAF)
It is a commonly encountered problem in both term
and preterm babies, which if not handled carefully may
lead to severe asphyxia aspiration pneumonia,
pneumothorax and pulmonary hypertension. The
obstetrician attending the labor should suction oral
cavity and throat once the babys head is delivered to
prevent aspiration into the lungs with the onset of first
cry. Meconium stained amniotic fluid is seen in about
10 to 15 percent of all deliveries. Infants born with
MSAF are 100 fold more likely to develop respiratory

distress than those born through clear liquor (Fig. 3.10).
Resuscitation of Meconium Stained Newborn
1. If a infant is vigorous crying there is no need to do
any special methods
2. If the infant is depressed at birth and meconium is
thick tracheal suctioning using endotracheal tube
with a negative pressure of 100 mgHg should be
done immediately.
3. If infant requires positive pressure ventilation, it
should be given by bag and tube, not by bag and
mask
Congenital Diaphragmatic Hernia
The neonate is usually born with distress or develops
shortly after birth. The distress is due to two reasons:
1) Pulmonary hypoplasia, which is irreversible and 2)
pulmonary hypertension which is reversible. Usually
babies with CDH have scaphoid abdomen and it
should be remembered that the only other cause of
respiratory distress in a neonate with a scaphoid
abdomen is isolated esophageal atresia following
aspiration.
The initial steps in resuscitation an infant with CDH
include, elective endotracheal intubation to minimize
gastric distention resulting from bag and mask, and
continuous gastric decompression, avoiding acidosis and
systemic hypotension.
Abnormal Baby
Fig. 3.10: Problem of MSAF
If lethal abnormalities are seen, avoid resuscitation, but

it is not always possible to decide. Also ethical issues
14
Fig. 3.11: Overview of neonatal resuscitation

Table 3.4: Identifiable disorders or specific structural
defects incompatible with life
Hydranencephaly
Anencephaly
Holoprosencephaly
13 Trisomy syndrome
18 Trisomy syndrome
Triploidy
Renal agenesis
Sirenomelia
Short limb dwarfism syndromes
Achondrogenesis types 1a and 1b
Type II achondrogenesis hypochondrogenesis
Fibrochondrogenesis
Atelosteogenesis
Short-rib polydactyly syndrome, Saldino Noonan type
Thanatophoric dysplasia
Osteogenesis imperfecta type II
Miscellaneous Syndromes
Lethal multiple pterygium syndrome
Neu-laxova syndrome
Meckel-Gruber syndrome
Goldsmith JP, Ginsberg HG, McGettiigan MC. Ethical decisions
in the delivery room. Clin Perinatol 1996;23:529-550.
have to be considered before taking such decisions.

Table 3.4 gives some lethal abnormalities that are
incompatible with life.
Hydrops fetalis should be anticipated if mother has
diabetes mellitus, polyhydramnios, anemia or toxemia.
Diagnosis can be made antenatally by ultrasound
examination and two mode echocardiography. Skilled
resuscitation and anticipation of selective systemic
complications may prevent early neonatal death. The
measures include:
Antenatally digoxin and propranolol are given if fetal
tachyarrhythmias are seen.
Give vitamin K prophylaxis for high-risk mothers.
Prevent overhydration.
If shock is present give blood or plasma.
If edema is seen give furosemide and salt-free
albumin.
If Hb is <10 gm percent do exchange transfusion
(single volume).
NALS
Central venous catheterizationfluid and electrolyte
monitoring.
If there is massive pleural effusion leading to
respiratory distress, pleural tapping is done.
15
Positive pressure mechanical ventilation if pulmonary

edema is present.
Therapeutic paracentesis or thoracocentesis is done
if massive ascites or pleural effusion is present.
16
Routine Care
of the Newborn
A proper care during early neonatal period prevents

many serious consequences. It involves the basic
principles of providing warmth feed, keeping the baby
clean and early picking up of danger signs. Participation
of the whole family in the care should be encouraged.
At the same time, person suffering from contagious
diseases like common cold, cough, skin infections should
not be allowed to handle the infant.
Prevention of Hypothermia
Prevention of hypothermia is perhaps the most essential
need of any infant. The thermoregulatory mechanism
in infants is less efficient making them prone for
hypothermia and its ill effects. Methods available to
prevent hypothermia are summarized below. Also see
Chapter 22.
Ensure that room is warm (ideal temperature 2425.5C, humidity 40-50%).
Keep the baby completely covered including head
(Figs 4.1a and b).
Use radiant room heaters if necessary.
Keep the baby close to mother, allow skin-to-skin
contact and kangaroo mother care.
Avoid giving bath, if insisted; use proper precautions
as described below.
Record temperature regularly and when in doubt,
use a low reading thermometer (Fig. 4.1c).
Bathing
It is better to postpone bathing in the immediate
neonatal period during infants stay in maternity hospital.
Fig: 4.1a: Keeping the baby warm
Fig. 4.1b: Keeping the baby warm by proper warm clothing
But cultural practices in most areas demand bathing to

remove vernix, meconium, blood staining for aesthetic
purposes in such situations proper precautions should
be taken as bathing can cause hypothermia and crying,
both of which increase oxygen consumption.
Routine Care of the Newborn
17
Cord Care (Fig. 4.1d)
Fig. 4.1c: Checking axillary temperature
The precautions to be taken are:

Give bath only to stable babies.
Water should be sterilized before hand by boiling.
Avoid immersion baths for preterms.
Temperature of bath water should not exceed 37C.
Use soaps with neutral pH.
Soaping should be followed by thorough rinsing:
remember all soaps are potential irritants including
baby soaps.
The whole process should not last for more than
5 minutes.
Completely dry the infant after bath.
Take special precaution to dry up skin folds.
Wrap the baby completely after drying.
Avoid rubbing and scrubbing.
Cord is cut and clamped after birth. The stump

becomes shrivelled in 2 to 3 days after which clamp
may be removed within 5 to 10 days cord stump falls
off. Cord care practices vary widely. Some recommend
no interference while others recommend application of
various types of antiseptics to prevent colonization and
secondary bacterial infections. The commonly used
antiseptics are chlorhexidine, 70 percent isopropyl
alcohol, povidone-iodine, Gentian violet, hexachlorophene etc. whether antiseptics are used or not the most
important thing in cord care is daily observation for features
of infection like periumbilical erythema, induration,
purulent, foul smelling discharge from the stump.
Eye Care
Immediately after birth of head, eyes should be cleaned
with sterile swabs taking care to use different swab for
each eye. Some recommend universal prophylaxis with
silver nitrate solution for prevention of ophthalmia
neonatorum but it can cause chemical conjunctivitis,
prompting others not to use it routinely. In either situation
eyes should be carefully watched. Watery or mucoid
discharge can be physiological but purulent one with
associated congestion of conjunctiva should always be
investigated with Gram stain and culture and managed
accordingly. Further details are given in Chapter 19.
Recording Daily Weight (Fig. 4.2)
The baby should be weighed in the labor room immediately after initial stabilization and this should be taken
as birth weight. Thereafter it is recommended to weigh
at least once a day in case of normal infants. Babies
should be weighed naked using electronic scales.
Weighing should be done just before a feed and at the
same time of the day to know any gain or loss. Normal
infants loose weight during first four days of life due
to loss of extracellular fluid. Lost weight will be regained
back by 7th to 10th day of life.
Watching for Danger Signs (Fig. 4.3a)
Fig. 4.1d: Cord care looking for discharge
Apparently healthy infants should be carefully watched

for following dangerous signs and early intervention
should be done.
18
Fig. 4.2: Recording daily weight
Fig. 4.3b: Jaundiced neonate after pressing the

tip of the nose
Fig. 4.3a: Watch for danger sign (abdominal distention)
Lethargy or excessive crying.

No stool in first 24 hours.
No urine in first 72 hours.
Choking after feeding.
Jaundice before 24 hours or persisting beyond one
week (Fig. 4.3b).
Hurried breathing and apnea (Fig. 4.3c).
Fig. 4.3c: Respiratory distress
Refusal of feeds.
Central cyanosis (Fig. 4.3d).
Distention of abdomen (Fig. 4.3a).
Convulsions.
Vomiting/diarrhea.
Bleeding (Fig. 4.3e).
Hypotonia.
Sudden fall or rise of temperature.
Fig. 4.3d: Central cyanosis
Fig. 4.3e: Umbilical bleed
19
Screening for Congenital Disorders (Table 4.1)

Screening in the newborn period plays an important
role in disorders which are difficult to detect clinically,
but early intervention yields dramatic benefits. Phenylketonuria (PKU) and congenital hypothyroidism are the
two commonest disorders for which screening in the
newborn period is done routinely in most western
countries. In India there is no routine newborn
screening program. Whether to screen for a disorder
is determined by certain characteristics they are:
Disorders with high incidence rate.
Disorders where early treatment of asymptomatic
infants decreases morbidity and mortality.
Cost should be low so that mass screening will be
cost effective.
The following screening tests have been recommended by American Academy of Pediatrics:
1. Congenital hypothyroidism.
2. Phenylketonuria.
3. Congenital adrenal hyperplasia.
4. Galactosemia.
5. Cystic fibrosis.
6. Sickle cell disease.
7. Biotidinase deficiency.
8. Maple syrup urine disease.
9. Homocystineuria.
10. Tyrosinemia.
11. Toxoplasmosis.
Technique of Obtaining Blood Specimen for
Screening Tests (Figs 4.4a and b)
Capillary blood obtained by heel puncture is sent
for screening tests.
Warm heel to 40C by wrapping with a warm towel
for 5 minutes.
Select puncture site; lateral and medial sites (seeshaded area in the figure)
Cleans with alcohol; allow to dry
Apply a thin layer of petroleum jelly
Grasp heel firmly; puncture heel with one continuous deliberate movement with a lancet.
Wipe off first drop of blood
Collect blood as necessary by intermittently
squeezing the heel (Table 4.1).
20
Table 4.1: Newborn screening program
Name of the disease/

prevalence
Sample/Test for Screening
Intervention
Remarks
PKU 1:10,000 to 1:25,000

In Asians 1:60,000
Dried blood spot on filter

paper collected by heel
prick on day 3 (after feed),
but not beyond day 7
Guthries test for PA levels
(>4 moles/dl)
Low PA diet before 4 wks

of age, preferably at the
earliest. Maintain serum
PA<6mg/dl. Low PA diets
are commercially available.
Defect of BH4 pathway
does not respond
False positive (1:3300)

benign hyperphenylalaninemia, physiological
mainly with prematurity.
False negative before
12-24 hrs. child refusing
feeds or having persistent
vomiting.
Congenital hypothyroidism
1:3600-5000 multiple
causes
Dried blood spot

radioimmunoassay of T4,
TSH or both, radioisotope
scanning
Thyroxine supplementation
Excellent response to
replacement therapy soft
signs prolonged jaundice,
constipation, umbilical
hernia
Sickle cell disease (SS, SC,

S-thal very high prevalence
in certain geoethnic
groups)
Quantitation of HbS (A&F)

by automated HPLC using
dried blood spot (or in
capillary tubes) from cord
blood, heel prick/
isoelectrofocussing, cellogel
electrophoresis
Penicillin prophylaxis and

immunization against S.
pneumoniae, H. influenzae
& N. meningitides may be
beneficial in reducing
fulminant sepsis. Other
benefits not established
False negative rate not

known False positive very
low. May be checked by
repeat test
MSUD 1:170,000 to
1:400,000
Bacterial inhibition assay

for leucine using a dried
blood spot (Guthries test)
High levels by 14 hours

irrespective of protein
intake. Results must be
available within 2 weeks
False negative rates

extremely low. Specificity
99.9%
Galactosemia 1:60,0001:80,000 (3 different

defects.
Dried blood spot. Microbiologic assay of blood

galactose after ingestion of
milk. >8-10 mg/dl Beutler
spot test for GALT
Galactose free diet as soon

as possible. Rapid turnaround for testing and
reporting needed because
of early onset of symptoms
Enzyme assay may be

negative after blood
transfusion up to 2-3
months. Partial deficiency
may be missed by
screening test. False
positive test likely during
hot humid summer months
because of degradation of
enzyme by heat.
Fig. 4.4a: Routine screening. Sample collection instructions
21
Fig. 4.4b: Heel prick to collect blood for screening tests
BIBLIOGRAPHY
1. Brown ER. Metabolic screening. Clin Perinatl 1998;25:
371-388.
2. Morelli JC, Weston WL. Soaps and shampoos in pediatric

practice. Pediatrics 1987.
22
Neonatal Immunization
It is important to protect children as early as possible

by immunization as vaccine preventable diseases occur
early in childhood. BCG and first doses of OPV and
hepatitis B are recommended to be given in the
neonatal period (Figs 5.1a and b).
Fig 5.1b: Mothers waiting for immunization
Fig. 5.1a
BCG Vaccine
It is recommended to give BCG vaccine at birth for all
institutional deliveries. It is given intradermally over left
upper arm over deltoid insertion using tuberculin
syringe. If BCG is given subcutaneously instead of
intradermally, the complications are more likely to occur
and immunity is going to be inadequate. Hence this

technique is important because loaded syringe and
needle are held almost parallel with the skin with bevel
up. Then the skin is barely pinched up with the needle
tip and advanced slowly till the needle tip has fully
entered the skin. Steadily, 0.1 ml of BCG is injected
over 3 to 5 seconds and needle is withdrawn. A true
intradermal injection will produce a bleb or wheal. The
wheal disappears after one hour. Further progress is as
follows (Figs 5.2a to 5.2g):
Immediate response is wheal formation: subsides
within 6 to 8 hours.
Induration: within 2 weeks: measures 5 to 10 mm.
Pustule formation: after 4 to 6 weeks.
Scab formation: by about 6 to 8 weeks.
Scar or nodule: by 10 to 12 weeks.
23
Fig. 5.2e: Well-formed bleb

Fig. 5.2a: BCG vaccine vial
Fig. 5.2b: Tuberculin syringe
Fig 5.2f: Well-formed BCG scar

Fig. 5.2c: Technique of giving BCG
Fig. 5.2d: Administering BCG intradermally
Fig. 5.2g: BCG adenitis. Note regional suppurative adenitis
24
Complications of BCG
The local complications that may follow BCG vaccination are ulcer, abscess, regional suppurative lymphadenitis and Kochs phenomenon.
BCG Adenitis (Fig. 5.2g)
The incidence of this complication is estimated to be
1 to 3 percent; usually, only axillary nodes are involved.
This complication occurs within 4 to 6 weeks of
vaccination Initially, lymph nodes are firm in consistency
but may become soft and form abscess later. The
infection may spread to supraclavicular, and cervical
nodes. This condition needs to be treated and the drug
used is isoniazid for 3 months.
Fig. 5.3a: Hepatitis vaccine
Reference: Udhani PM. Textbook of Pediatrics. First

Edn, Jaypee Brothers, New Delhi.
ORAL POLIO VACCINE

In 1989 Ministry of Health, Government of India
recommended one extra dose of OPV at birth for all
hospital deliveries (zero dose) it should be given within
24 hours. If any child fails to receive this dose it can
be given up to 2 weeks (see also cold chain).
Hepatitis B Vaccine
Hepatitis B vaccine should be started soon after birth
during first clinic visit as recommended by IAP. For
babies born to HBsAg-positive mothers, along with the
vaccine, hepatitis B immunoglobulin should be given.
The dosage schedule is given below. See also preterm
immunization (Figs 5.3a to c).
a. Babies of HBsAg negative mothers:
1st dose: at birth or during first clinic visit along with
DPT
2nd dose: 4 weeks after 1st dose
3rd dose: 4-6 months after 1st dose
b. Babies of HBsAg +ve mothers:
1st dose: at birth along with hepatitis immunoglobulin within 12 hours.
If there is delay of more than 12 hours, no need
to give HBIg.
Fig. 5.3b: Hepatitis B immunoglobulin
Fig. 5.3c: Cite of injectionvastus lateralis
25
Some Practical Tips

Do not give hepatitis vaccine to gluteal region; give
to anterolateral thigh.
When giving hepatitis B vaccine and immunoglobulin simultaneously, use separate syringe, needle
and sites of injections.
Do not freeze hepatitis B vaccination; it looses its
potency.
Reference: Update immunization policies, Guidelines
and Recommendation. Indian pediatr 1999; 36: 567568.
Preterm Immunization
Immunological response of preterm babies is appropriate when immunized with OPV, DPT or Hib. at
appropriate chronological age. Same is true for hepatitis
B vaccine, for whom following strategy is recommended: (1) Preterm babies born to HBsAg +ve mothers,
give heapatitis B vaccine with immunoglobulin within
12 hours, (2) preterm babies born to HBsAg-negative
mothers. Wait till 2 months of age or till discharge
provided babys weight is at least 2 kg at that time for
BCG, babies born >34 weeks of gestation (1.8 kg) can
be vaccinated within days. For babies born with
gestational age <34 weeks wait till they reach postconceptional age of 34 weeks.
BCG, OPV
>34 weeks (1.8 kg): vaccinate
<34 weeks (1.8 kg): Wait till they reach postconceptional age of 34 weeks.
DPTAs per regular schedule.
Hepatitis B
Born to HBsAg-positive mother
Vaccinate + Give immunoglobulin within 12
hours.
Born to HBsAg-negative mother
Wait till baby reaches 2 kg or 2 months of age.
Reference: Thayyil Sudhas S, Kumar A, Singh M, et al.
Safety and efficacy of BCG vaccination in preterm
babies. Arch Dis Child 1999; 81: F64-F66.
Immunization of Babies Born to HIVPositive Mothers
For babies born to HIV-positive mothers, Hepatitis B
Fig. 5.4a: Oral polio vaccine
Fig. 5.4b: Administering OPV
and DPT vaccines can be given safely as per the regular

schedule. Live vaccines that is BCG and OPV, can be
safely given to asymptomatic babies but better avoided
in symptomatic ones.
Cold Chain
Vaccines are known to lose their potency if not stored
and transported at recommended low temperatures.
The cold chain is a system of storage and transport
of vaccines at low temperature from the manufacturer
to the actual vaccination site. OPV is the most sensitive
vaccine to heat requiring storage at 20C. Among
vaccines used in newborn period, OPV should be stored
in first compartment and BCG also in the first
compartment.
26
Fig. 5.5a: Vaccine carrier
Fig. 5.5c: Rightice-lined refrigerator for vaccine storage

Leftdeep fridge for preparing ice packs
Fig. 5.5b: Vaccines inside the carrier
Fig. 5.5d: Ice pack containing OPV and DPT
Vaccine Carriers
These are used to carry small quantities of vaccines (1620 vials).
These carriers are made of special material which
do not allow heat to pass through it. Four fully frozen
ice packs are used for lining the sides and lid should
be closed tightly. Deep fridge (Fig. 5.5c; left) is used
to prepare ice packs and ice-lined refrigerator (Fig. 5.5c;
right) is used for vaccine storage. At vaccination center,
vaccines are kept in slots of ice packs (Fig. 5.5d).
Traditional Practices
27
Traditional practices in India vary from region to region.

A few of them are beneficial to the child, but quite a
lot of them are harmful. A doctor taking care of
newborns should be aware of all the types of practices
in the community, he is working in. He must encourage
the good practices, discourage harmful once and be
indifferent to those which do not fall in either category.
A few traditional practices are outlined below.
Beneficial Practices
1. Pregnant woman staying at her mothers house
during pregnancy and delivery.
2. Instillation of colostrum to eyes.
3. Warming up babys clothes on heated tawa to
maintain warm chain.
4. Use of fire with incense to warm up after bath
(Figs 6.1a and b).
5. Traditional clothes and baby in a cradle/hammock
(Figs 6.2a to c).
6. Traditional toys tied to cradle.
7. Isolation of mother and baby for 2 months in a
warm environment.
8. Oil massage to baby before bath (Fig. 6.3).
Fig. 6.1a: Exposing the baby to fumes of incense powder
Harmful Practices
1. Food fads and taboos to pregnant women.
2. Prelacteal feeds for newborns (Figs 6.4 and 6.5a
and b)
a. Discarding colostrum.
b. Rooming in a mother and baby in a dark room
with dirty clothes.
Fig. 6.1b: Garlic and incense powder
28
Fig. 6.2a: Baby sleeping in the hammock
Fig. 6.3: Oil massage
Fig. 6.4: Offering prelacteal feeds
Fig. 6.2b: Traditional hammock
Fig. 6.2c: Traditional hammock
3. Instillation of oil drops in nose and ear.

4. Branding of newborn for prevention of illness (Fig
6.6).
5. Applying kajal and surma to eyes (Fig. 6.7).
6. Janam gutti to baby.
7. Nose ring for prevention of evil eyes (Fig. 6.8).
8. Piercing ears and nose by professional quacks (Fig.
6.9).
9. Application to cord-cow dung, oil, kumkum, ash,
turmeric etc.
10. During resuscitation-slapping, anal dilatation
blowing in ear, throwing hot or cold water.
11. Expressing witchs milk.
12. Bathing for a long time (Fig. 6.10).
29
Fig. 6.5a: Giving these is harmful to newborns
Fig. 6.7: Applying kajal to eyes may cause infections
Fig. 6.5b: Offering honey can cause neonatal botulinism
Fig. 6.8: Nose ring. Note surrounding inflammation
Indifferent Practices
Fig. 6.6: Branding note, branded marks at the areas of

chest retraction in a baby with pneumonia
Waist bands, wrist bands, neck band to avoid evil

eyes (Figs 6.11a and b).
Applying oil over anterior fontanel.
Talisman.
30
Fig. 6.9: Ear ring
Fig. 6.11b: Wrist bands and ankle bands to ward off evil eyes
Fig. 6.10: Bathing the baby for a long time. Note

traditional knee bath
Fig. 6.11a: Tying charm round the neck
Fig. 6.12: Guddaluthough the concept of isolating parturant

mother and her baby from rest of the unhygienicallymaintained house is good, the confinement in such a
congested, contaminated special hut (Guddalu) will defeat
the very purpose of good intention
Physical Examination of the Newborn
31
Physical Examination
of the Newborn
The physical examination of the newborn is a special

responsibility as a new individual is being evaluated for
the first time, and very simple things of great importance
may be missed if the approach is not organized and
methodical. The examination is done in three stages
with different objectives in each of them. First examination is done immediately after initial resuscitation
in the labor room to detect life-threatening anomalies
incompatible with life if left unattended. List of
common life-threatening anomalies is given in Table 7.1.
The subsequent examinations depend on the baseline
established during first examination. A detailed second
examination is carried out within 24 hours to detect any

deviation from the baseline. At the time of discharge,
a third examination is done to detect any abnormality
missed earlier or which might have appeared later. The
important points to remember during a neonatal
examination are given below.
Identify the neonate correctly.
Assemble all records and cleaned equipment.
Wash hands thoroughly.
Examine in a warm environment under good light.
Examine preferably in the presence of mother.
Examination should be gentle and methodical.
Table 7.1: Common life-threatening congenital anomalies

Name
Manifestations
Choanal atresia
Respiratory distress in delivery room, apnea, unable to pass nasogastric tube

through nares. Suspect CHARGE syndrome
Pierre Robbin syndrome
Micrognathia, cleft palate, airway obstruction
Diaphragmatic hernia
Scaphoid abdomen, bowel sounds present in chest, respiratory distress
Tracheoesophageal fistula
Polyhydramnios, aspiration pneumonia, excessive salivation, unable to place

nasogastric tube in stomach. Suspect VATER syndrome
Intestinal obstruction:
Volvolus, duodenal atresia,
Ileal atresia
Polyhydramnios, bile-stained emesis, abdominal distention. Suspect trisomy 21,

cystic fibrosis, cocaine abuse by mother
Gastroschisis, omphalocele
Polyhydramnios, intestinal obstruction
Renal agenesis, Potter syndrome
Oligohydramnios, anuria, pulmonary hypoplasia, pneumothorax
Neural tube defects

Anencephalus, meningomyelocele
Polyhydramnios, elevated -fetoprotein, decreased fetal activity.
Ductal-dependent congenital heart disease
Cyanosis, hypotension, murmur
From Stall BJ, Keligman RM in Behrman RE, Kligman RM, Jenson HB Eds Nelson Textobook of Pediatrics 17th edn. Saunders
Philadelphia.
32
Examine those systems first, which require a quiet

infant. e.g. auscultation of lungs, palpation of abdomen,
etc.
WASHING HANDS
Handwashing is the simplest and most cost-effective
way to prevent skin colonization and interrupt
nosocomial transmission. Following guidelines are
recommended.
Use a mild, alkaline to neutral pH, nonantimicrobial
skin cleanser for soiled hands, although routine use
of plain soap may result in dispersal of bacterial
colonies and increase the risk for transmission.
Handwashing after each patient contact is
recommended, even when wearing examination
gloves, because of frequent hand contamination by
undetected leaks in the gloves.
Chlorhexidine and a waterless, alcohol-based
product are agents of choice for hand decontamination of bacteria. In situations in which candida
infection is problematic, 10% povidone-iodine may
be preferable.
Surgical scrubbing may increase skin shedding of
bacteria and is not recommended.
General Examination
Before disturbing a sleeping or a quiet infant, spend
some time to assess his general appearance. Assess his
state of arousal, cry, activity and color. This simple
exercise gives invaluable amount of information about
infants well being (Fig. 7.1).
Vital Signs (Figs 7.2a to d)
Temperature, heart rate, respiratory rate, pulse, blood
pressure and capillary filling time [CFT] will confirm the
general impression had from preliminary inspection.
Temperature can be measured at several sites; oral
cavity rectum, axilla, tympanic membrane or skin.
Rectal temperatures are 1F higher than oral where as
axillary temperatures are 1F lower. Temperature should
be checked at least twice a day. Applying pressure and
noting the time taken for blanching to disappear, check
CFT. Normally it should be less than 3 sec. Heart rate
is counted by auscultation. Normal heart rate is between
Fig. 7.1: Baby in radiant warmer
110 and 160. Pulses are checked for their presence and
volume. Blood pressure is checked in special situations
only.
Anthropometry: Routinely weight, length, head
circumference, chest circumference and mid-arm
circumference are measured. Special measurements are
taken in the presence of any dysmorphic features. The
details are described in chapter 33.
Assessment of gestational age: Using a combination
of neuromuscular and physical criteria gestational age
can be estimated. This is usually done by scoring system
described by Dubowitz with later modification by
Ballard. Further details are described in chapter 11.
Head to Foot Examination
Posture (Figs 7.3a and b): Posture reflects general
neurological status and degree of maturity. Normal
posture of a healthy neonate is that of universal flexion
Fig. 7.2a: checking axillary temperature
Fig. 7.2b: Checking for femoral pulse
Fig. 7.2c: Checking for dorsalis pedis pulse
Fig. 7.2d: Checking for capillary refill time
Fig. 7.3a: Posture in a normal

term baby
Fig. 7.3b: Posture in prone position. Note buttocks being lifted and weight
borne by the knees compare with that of a preterm baby
33
34
Normal variants
Birth marks
Rashes
Abrasions, ecchymosis
Tache cerebrale may indicate autonomic disturbance
of cutaneous vasculature (Fig. 7.4b).
Edema: Edema can be local or generalized. The

important causes are given in the Table 7.2.
Physiological edema is commonly seen in preterm
babies. It appears by second day of life and disappear
by end of first week (Fig. 7.6).
Table 7.2: Causes of edema
Local
Fig. 7.4a: Normal pink looking baby
General
Caput
Fracture sites
Superior vena cava syndrome
Turner syndrome
Vit E deficiency
Congenital lymphedema
Physiologic
Anemia
Rh isoimmunization
Cardiac failure
Intrauterine infection
Congenital nephrosis
Over-hydration
SIADH
Renal causes
Respiratory distress
syndrome
Head: The important points that should be noted in

the examination of head are given in the Table 7.3.
Table 7.3: Examination of head
Fig. 7.4b: Tache cerebrale
with head usually turned a little towards one side. When

put to prone position, this universal flexion becomes
more obvious so that buttocks are raised and weight
is borne by knees. The head is again kept turned to
one side.
Skin (Figs 7.4a and b): Newborn skin presents wide
range of normal variants and causes undue anxiety in
parents. Normal term newborns have firm and pink
looking skin with the possible exception of palms, soles
and circumoral areas (acrocyanosis) which may be
considered as normal in the first 48 hours. Following
points should be noted in the examination of skin.
Color: pink, pale, ruddy, jaundiced
Texture: firm, loose, thickened (sclerema)
Superficial injuries
Scalp, defects, hair, whorl pattern
Size
Shape
Localized swelling
Skull fractures
Sutures
Fontanellae
Craniotabes
Transillumination
Sutures and fontanellae: The names of 6 sutures

and fontanellae are shown in the figure. Normally, only
anterior and posterior fontanellae are open at birth.
Note the number, size and surface (depressed, flat,
bulged). The variation in the size and number fontanellae may give clue to the underlying conditions which
35
Fig. 7.6: Local edema over feet in a case of Turner

syndrome
Fig. 7.5a: Major sutures and fontanels in a newborn skull
Craniosynostosis
Microcephaly
Third fontanel:
Down syndrome
Hypothyroidism
(From Avery)
Sutures should be examined for the gap between
them. Separation upto 1cm may be considered as
normal. Premature closure also termed as craniosynostosis can impart various abnormal shapes to the skull
depending on the suture affected. It should be
differentiated from overriding, a normal finding in first
48 hours. This is done by noting ridging at suture lines
in craniosynostosis and step up feel in overriding.
Fig. 7.5b: Checking anterior fontanel
are listed below. Only 3% of newborns have posterior

fontanel greater than 0.5 cm (Figs 7.5a and b).
Too large:
Skeletal disorders (hypophosphatasia, OI etc.)
Chromosome abnormalities
Hypothyroidism
Raised ICT or hydrocephalus
Too small:
Hyperthyroidism
Craniotabes: It is softening of skull bones, which is

demonstrated as ping-pong feel when pressure is
exerted by a fingertip near suture lines. It is a normal
finding when localized. Whereas generalized,
craniotabes may be a sign of defective calcification likeOI, rickets, cleidocranial dysostosis, Down syndrome.
Transillumination of skull: Transillumination of skull
is done when a neurological disorder is considered.
This is carried out in a dark room (after the examiner
gets adapted) using fiberoptic light source being applied
to various parts and taking precautions to avoid
lightleaks. Abnormal transillumination occurs when
transmission is altered by intracranial factors.
36
Face: Facial features reflect those of parents and ethnic

group. Before labeling any subtle abnormality, the
examiner should have a look at the parents and
siblings. Various abnormal facies are given in
Chapter 33.
Eye: Newborn eye examination is difficult.
An attempt to separate the lids should not be made
as it is very difficult due to strong orbicularis. The best
time to examine is when they are spontaneously open.
Holding the baby up and moving gently forward and
backward can sometimes help. Routine ophthalmoscopic examination is not recommended and should be
done when underlying abnormality is suspected. The
feature to look for in eye examination are listed below
(Figs 7.7a to f).
Fig. 7.7a: Examination of the fundus
Table 7.4: Eye examination
Edema of lids
Slant abnormality
Buphthalmos
Proptosis
Subconjunctival hemorrhage
Conjunctivitis
Cataracts
Corneal opacities
Colobomas
White pupil
Blue sclera
Ophthalmoscopic Examination
Ophthalmoscopic examination provides useful information. Inspection of retina requires a dilated pupil. By
direct ophthalmoscopy, two important abnormalities
should be looked for: pre-retinal hemorrhages and
chorioretinitis. The former is associated with intracranial
hemorrhage and the latter suggests intracranial
infection.
The infant is placed supine and to examine the right
eye head is turned with left side of the face resting on
the surface the examiner without touching the baby
should bend over and use the right eye to look at the
childs right eye, similarly the process is repeated with
the left eye.
Ears: General shape, size, position and setting of the
ears should be noted. Presence of accessory ears, tags,
Fig. 7.7b: Indirect ophthalmoscopy to check for red reflex
Fig. 7.7c: White reflex
37
sinuses may be part of a syndrome complex. Further

details are given in Chapter 33.
Nose: Neonates are obligatory nose breathers.
Checking for patency should be part of routine
examination and can be done by passing a polythene
tube. General shape, size should be inspected.
Mouth: Mouth should be looked for size and
symmetry. Inspection of inside of mouth is best done
when child is crying. Pressing down on the chin can
sometimes help. Mouth holds various normal variants
and should be looked for. Use of tongue depressor is
not recommended (Fig. 7.8).
Fig. 7.7d: Moving the baby to open the eyes
Neck: Neck in neonates is usually short, but full range

of movements is possible. It should be examined for
presence of swelling, webbing, absence of clavicle, and
clavicular fractures.
Fig. 7.7e: Moving the baby to open the eyes
Fig. 7.7f: Edema of the eyelid
Fig. 7.8: Pressing down on chin to open the mouth
38
Chest and heart: Look for the following features while

examining the chest and heart.
Shape
Bilateral expansion
Respiratory rate
Presence of retraction
Percuss for note
Heart rate
Murmurs
Femoral and brachial pulses
Blood pressure
Radiographic examination.
Abdomen: Normally abdomen in newborn period
appears protuberant. Conditions altering the shape of
abdomen are listed in Table 7.5. Relaxed and quiet
infant, and warm hands of examiner are the essential
prerequisites for good abdominal palpation. Liver (up
to 2cm) kidneys (lower lobes), spleen (tip), and
distended bladder are the normally palpable structures.
Unidigital palpation is the preferred method.
Table 7.5: Abnormal shapes of abdomen
Scaphoid:
Distended:
Diaphragmatic hernia tracheoesophageal fistula

Ascites
Intestinal obstruction
Meconium ileus
Paralytic ileus
Hydronephrosis
Diastasis of recti
For palpating kidney, unimanual method is advocated. Presence of any abnormally palpable mass
should prompt further investigation. List of common
congenital abdomen masses is given in Table 7.6 (Figs
7.9a and b).
Genitalia: Look for the following features in males
Length of penis
Position of urethral opening
Urinary stream
Rugosity of scrotum
Feel for both testes
Benign conditions causing parental anxiety are
phimosis, apparently small penis, hydrocele and
retractile testes.
Table 7.6: Abnormal abdominal masses

Renal (55% of total abdominal masses)
Hydronephrosis
Multicystic kidneys
Renal malformations
Renal vein thrombosis
Renal neoplasms
Genital (15%)
Hydrometrocolpos
Ovarian cyst
Gastrointestinal (15%)
Obstructions
Cysts or tumors
Duplications
Retroperitoneal (5%)
Solid tumors
Anterior meningomyelocele
Liver and biliary (5%)
Cysts
Tumors
Adrenal (5%)
Hemorrhage
Neuroblastoma
From: Averys Diseases of the Newborn, 7th edn, Pg: 346
In term female babies labia majora completely cover

the minora. Mucoid discharge, vaginal bleeding, hymenael tags are common and require reassurance. Special
care should be taken to rule out imperforate hymen.
Limbs: Limbs should be examined for the shape,
posture, symmetry and movements. Intrauterine
position has greater influence on these parameters.
Congenital anomalies involving limbs are described in
Chapter 32. Routinely congenital talipes equinovarus
(CTEV) and congenital dislocation of hip (Fig. 7.10b)
should be ruled out. Touching the dorsal surface of foot
to the anterior surface of the leg rules out CTEV (Fig.
7.10a).
Spine: With the baby prone look for any midline
abnormality such as swelling, dimple, tuft of hair,
naevus or sinus. Any of these may be indicative of
underlying abnormality of the vertebral column or
spinal cord and should be investigated.
Neurologic examination: Much information can be
obtained by watching, handling and listening to the
baby throughout the examination than by formally
testing. It should be remembered that gestational age
and degree of arousal influence the physical finding.
39
Fig. 7.9a: Unidigital palpation of liver
Fig. 7.10a: Test to rule out talipes equinovarus
Fig. 7.9b: Unimanual palpation of kidney
Fig. 7.10b: Checking congenital dislocation of hip
Following points should be looked for in neurological

examination in the newborn.
of head to that of the body and flexion of all limbs

including at the elbow. In hypotonia head lags behind
and there is flexion response of limbs.
Resting posture: Normal posture as described earlier

is that of universal flexion. Decreased tone produces
frog leg position in which thighs are fully abducted so
that the lateral surfaces rest on supporting surface and
arms are flexed at elbow and dorsum of hands rest on
the surface.
Methods for assessing tone: There are 3 tests for
assessing tone. The traction response, vertical suspension
and horizontal suspension (Figs 7.11a to i).
Traction response: Baby is held at wrist and pulled
to sitting posture. Normal response is almost parallel lift
Vertical suspension: Vertical suspension is tested by

lifting the baby by placing both hands in the axillae.
Normally head is maintained in the midline for few
seconds and there is flexion against gravity in all limbs
which is not seen in hypotonia.
Horizontal suspension: This is tested by lifting the
baby horizontally by placing the hands around thorax.
In normal term newborns initial attempts to lift the head
are made and trunk is held straight with flexion of all
limbs. This is not seen in hypotonia.
40
Fig. 7.11a: Vertical suspension in a normal term baby.

Note flexion of limbs
Fig. 7.11b: Vertical suspension in a hypotonic term baby.

Note flexion of limbs
Fig. 7.11c: Traction response in a normal term baby
Fig. 7.11d: Traction response in a hypotonic baby
Fig. 7.11e: Horizontal suspension in a normal term baby
Fig. 7.11f: Horizontal suspension in a hypotonic baby
Fig. 7.11g: Decorticate posturing
41
42
Fig. 7.11h: Decerebrate posturing
(b)
(a)
(c)
Fig. 7.11i: (a) Opisthotonus, (b) Decerebrate, (c) Decorticate
Normal Variants
43
Normal Variants
The knowledge of normal should precede the

knowledge of abnormal RS Illingworth. Newborns
present with a wide range of normal variants, which
though benign in nature, cause apprehension equally
among parents and ill informed physicians. The
common variants are listed in the Table 8.1.
of these macules is due to the presence of melanin

containing spindle-shaped melanocytes in dermis, which
are presumed to have been arrested during migration
from neural crest to epidermis.
Table 8.1: Normal variants in newborn
Mongolian spots
Erythema toxicum
Epstein pearls
Milia
Hemangiomas of skin
Peeling of skin
Harlequin color changes
Cutis marmorata
Sucking blisters
Sebaceous gland hyperplasia
Transient pustular melanosis
Miliaria rubra/crystallina
Subconjunctival hemorrhage
Breast engorgement
Vaginal bleed
Vaginal mucous discharge
Hymenal tags
Non-retractile prepuce
Hydrocele
Neonatal teeth
Phimosis
Accessory nipple
Prominent xiphisternum
Frontal baldness
Mongolian Spots (Fig. 8.1)

Mongolian spots are blue black or deep brown to slate
gray macular lesions of varying size. The peculiar hue
Fig. 8.1: Mongolian spot
Other features are:

Most common pigmentry lesion
Predominantly seen in lumbosacral area
Occasionally in back of thigh, legs, shoulder
Most of them fade within one or two years
Some persist into adulthood.
Some Interesting Points about Mongolian Spots

These are almost universal in colored races, common
in Eskimos. In China almost all babies have mongolian
spots and is considered by them as a Kick by God
for start of life. In Japan it was thought to be made by
44
God, Kani-sama who precedes over child birth or else

due to the back of the fetus rubbing against the
placenta. In Iraqi villages it is considered as a sign
of Allahs favor. Iranins believe that it occurs when
mother has intercourse during pregnancy. Sometimes
Mongolian spots are confused for bruises and battering
of baby.
No systemic effect
Lesions disappear spontaneously within 3 days.
Differential diagnosis:
Milia rubra
Herpes simplex
Bacterial folliculitis.
Erythema Toxicum (Figs 8.2a and b)
Milia (Figs 8.3a to c)
It is a misnomer as the condition is absolutely nontoxic.

Incidence increases with weight and gestational age.
Most common transient rash in healthy neonates
Rarely present at birth
Usually occur in first 2 days of life
Though commonly seen on trunk and face, can
occur anywhere except on palms and soles.
Also called milk spots, present approximately in 35%

of full term infants in India. Appear as multiple yellow,
pearly-white, 1-2 mm papules scattered over the
cheeks, forehead, nose, nasolabial folds and rarely on
the penis. These lesions develop due to blockage of the
pilosebaceus glands of vellus hair. Spontaneous
exfoliation within first few weeks is the rule. Persistence
Fig. 8.2a: Erythema toxicum
Fig. 8.3a: Milia alba (Milk spot)
Fig. 8.2b: Erythema toxicum (Close up view)
Fig. 8.3b: Milia rubra
Normal Variants
45
When they occur on alveolar margins, they are

called Bohns cysts. They resolve spontaneously but may
take several months to do so.
Sucking Blisters (Figs 8.5a and b)
Sucking blisters are seen in about 0.5% of normal
newborns as 0.5-2.0 cm oval bullae or erosions over
lips, thumb and other acral areas. These lesions are
presumed to arise as a result of vigorous sucking inutero; hence the term sucking blisters. They are present
at birth disappear spontaneously in few months . They
should be differentiated from other blistering diseases
of newborn period.
Fig. 8.3c: Milia over penis
of milia or unusually wide spread distribution may be

a manifestation of Basexs syndrome, orofacial digital
syndrome, and Marie-Unnahypotrichosis. When they
are lying in the deeper layers they look red and are
called Milia Rubra.
Epstein Pearls (Palatal cyst) (Fig. 8.4)
Epstein pearls is the name given to milia that occur in
the oral mucosa. The incidence is said to be 88% in
Indian infants. They are found along the median raphe
on the hard palate and at the junction of hard and soft
palate. They appear as 1-2 mm, opaque-white, firm
movable lesionson microscopy they show nests of
epithelial cells.
Fig. 8.5a: Sucking blister
Fig. 8.5b: Sucking blister
Harlequin Color Change (Fig. 8.6)

Fig. 8.4: Epstein pearl (palatal cyst)
Harlequin color change is a very benign condition and

should not be confused with Harlequin fetus, a severe
46
Fig. 8.6: Harlequin color change
form of lamellar icthyosis with grave prognosis. It is a

condition due to disturbed nervous control of
vasomotor tone in which there is reddening of the half
of the body and simultaneous blanching of the other
half. A sharp line of demarcation runs from the center
of forehead down the face and trunk nearly in midline.
It is commonly seen in LBW babies and 10% of full
terms. It is transitory in nature with each episode lasting
from half a minute to 20 minutes with variable number
of episodes in a day. Turning the infant on the other
side may induce blanching of the red side and
reddening of the pale side.
Fig. 8.7a: Cutis marmorata
Cutis Marmorata (Figs 8.7a and b)

It is a reticulate bluish mottling of the skin on the trunk
and the extremities. It is thought to be due to the result
of poor autonomic nervous system control of cutaneous blood vessels and inappropriate shunting of
blood from superficial to deep plexus in certain skin
segments. It may be accentuated in certain disorder like
Down syndrome. It should be differentiated from cutis
marmorata telangiectasia congenita which gives rise to
more intense and often irregular mottling and sometimes thinning of the skin. Other differential diagnosis
is diffuse phlebactasia due to grossly dilated large veins.
Neonatal Teeth (Figs 8.8a and b)
Approximately 1 in 2000 children are born with a tooth
and familial occurrence is well known probably as an
autosomal dominant trait.
Fig. 8.7b: Cutis marmorata
Great people like Julius Caesar, Nepolean and king

Louis XIV were supposed to be born with teeth. In
Poland, China and India such babies are viewed with
fear and superstition and in some parts of Africa they
may even be killed!
Normal Variants
47
Fig. 8.9: Apparent phimosis
may be seen in syndromes like Ellis van Creveld

syndrome, Hallerman Streif syndrome, Sotos syndrome, pachyonychia congenital syndrome, and rarely
in Meckel-Gruber syndrome, Pallister Hall syndrome,
restrictive dermopathy and short rib polydactyly
type I.
Apparent Phimosis in Newborn (Fig. 8.9)
Prepuce in the neonatal period is nonretractile in 95%
of infants and gives an apparent impression of phimosis.
It is still in the process of separation from glans penis
and may take 2-3 years. If the stream of urine is good,
one needs not worry about it.
Figs 8.8a and b: Neonatal tooth in a normal baby
Transient Pustular Melanosis (Fig. 8.10)

Usually they are lower central incisors and it is
unnecessary to remove them. Aspiration and injury to
mothers breast are erroneous fears. They appear yellow
because of deficiency of enamel. They only represent
prematurely erupted deciduous teeth. Neonatal teeth
It is characterized by pustules present at birth, which

later leave macular pigmentation. This eruption is always
present at birth. It is considered to be closely related
to erythema toxicum neonatorum. The differentiating
points are given in the Table 8.2.
Table 8.2: Differences between erythema toxicum and transient pustular melanosis
Incidence
Age of onset
Type of lesion
Contents on microscopy
Erythema toxicum
Very common
After 2 days
Vesico-papule or pustule
with surrounding erythema
Eosinophils predominate
Relatively rare
Present at birth
Vesico-pustule with no surrounding
erythema
Neutrophils predominate
48
the extremities during first week of life. In extreme cases,
a congenital ichthyosis has to be considered. But
absence of ectropion, eclobian and gloved appearance
helps in differentiation. Another condition that should
be differentiated is X-linked recessive hypohidrotic
dysplasia.
Fig. 8.10: Transient pustular melanosis
Peeling of skin (Figs 8.11a and b): Excessive

peeling of skin is commonly seen in post term and
growth retarded babies. It is commonly observed over
Subconjunctival hemorrhage (Fig. 8.12): The

semilunar arc of subconjunctival hemorrhage is a
common finding in normal babies. It is most commonly
located at the limbus and brought to the notice by the
observant mother. It is the result of rupture of capillaries
in the sclera from pressure on the fetal head during
delivery. The blood gets reabsorbed after a few days
without leaving any pigmentation.
Fig. 8.12: Subconjunctival hemorrhage
Normal Manifestations due to Maternal

Hormones (Figs 8.13a to d)
Fig. 8.11a: Peeling of skin
Three normal variants are seen in the newborn period

under the influence of maternal hormones which cross
placenta. These are gynecomastia (Fig. 8.13a), vaginal
mucoid discharge (Fig. 8.13c) and bleeding from
vagina (Fig. 8.13b). All these are benign and selflimiting but cause great concern in parents.
Gynecomastia (Fig. 8.13a)
Fig. 8.11b: Peeling of skin
Seen in 30-40% of babies

Seen in both sexes
May be able to express witchs milk
Should be differentiated from mastitis by absence
of erythema and purulent discharge.
Advice not to squeeze and express milk.
Normal Variants
Fig. 8.13a: Bilateral breast engorgement
Fig. 8.13c: Vaginal mucoid discharge
Fig. 8.13b: Vaginal bleed
Fig. 8.13d: Witchs milk
49
Vaginal bleeding occurs due to hyperplasia and

shedding of endometrium, reaching its maximum
between 3rd and 5th day and stopping usually during
2nd week.
Hymenal tags (Fig. 8.14): Tags may project from the
hymen and cause anxiety in the mother. They have no
significance and shrivel and disappear spontaneously
within few day of life.
Hydrocele (Figs 8.15a and b)
The transient hydrocele is due to the presence of a
patent processes vaginalis.
Vaginalis is an outpouching of peritonium drawn
down by the descent of testis, its distal portion persists
as the tunica vaginalis, but the intervening communication with peritoneal cavity is normally obliterated.
Fig. 8.14: Hymenal tag
If the mouth of processus vaginalis is wide it produces

hernia. If the mouth is narrow it produces hydrocele.
50
Fig. 8.16: Supernumerary nipples

Fig. 8.15a: Hydrocele. Note obliteration of normal rugae
Fig. 8.15b: Hydrocele Note obliteration of normal rugae
Treatment: Majority of them resolve spontaneously

prior to 1 year. Surgical intervention is required if the
hydrocele persists beyond 1 year of age.
Supernumerary Nipples (Fig. 8.16)
These occur in about 1.5% of normal newborns and
is more common in colored races. These are seen
anywhere in the milk line that runs from axilla to the
grain on either side. They are insignificant, even though
there is some suggestion that they may be associated
with urinary tract abnormalities.
Fig. 8.17: Prominent xiphisternum
Prominent Xiphisternum (Fig. 8.17)

May protrude anteriorly underneath the skin and may
cause anxiety in mother which needs to be allayed
Hemangiomas of Skin (Stork bites)
(Figs 8.18a and b)
Small capillary hemangiomas are common in the
newborn period. They usually occur over the eyelids
and the nape of the neck, when they are called salmon
patch and stork bites respectively.
Normal Variants
51
Fig. 8.18a: Salmon patch
Fig. 8.19: Frontal baldness
Frontal Baldness (Fig. 8.19)

This is common at the age of 4 weeks and need to be
recognized as a normal variants.
BIBLIOGRAPHY
Fig. 8.18b: Stork bites
1. Berg F, Solomon L. Erythema toxicum neonatorum. Arch

Dis Child 1987;62: 327-328.
2. Jorgenson RJ et al. Intraoral findings and anomalies in
neonates. Pediatrics 1982;69: 577-582.
3. Kulkarni ML, Singh R. Normal variants of skin in neonates.
Ind J Dermat Venerol Leprol 1996;62: 83-86.
4. Varsano IB et al. Urinary tract abnormalities in children
with supernumerary nipples. Pediatrics 1984;73:102.
52
Stool Cycle in Newborn
The features of stools passed in the first few days of

life show definite changing pattern. This can cause
anxiety in parents and treating clinician should be aware
of this changing pattern.
Meconium Stool (Fig. 9.1)
It is the first stool passed by the infant. Ninety-four
percent of infants pass meconium within 24 hrs of birth.
It may continue to be passed for 3-4 days. It is a thick
black, material that collects in the distal portion of small
intestine and colon of the fetus. It consists of bile,
intestinal secretion, desquamated cellular debris and
amniotic fluid.
Fig. 9.2: Transitional stool
Fig. 9.1: Meconium stool
Transitional Stool (Fig. 9.2)

When milk feeding is established, meconium stools give
way to frothy, lighter transitional stool. It is green or
Fig. 9.3: Milk stool
Stool Cycle in Newborn 53

yellow in color and may contain curds (Fig 9.2). It is
passed more frequently and mistaken for diarrhea and
unnecessary antibiotics are used.
Milk Stool (Fig. 9.3)
It follows 3-4 days of breastfeeding. Stools are soft in
consistency and yellowish in color with a sour smell.
Absence of milk stools even by 5th day is indicative of
inadequate breastfeeding.
Stool in Artificially-fed Babies (Fig. 9.4)
Fig. 9.4: Stool of an artificially-fed baby
The stool is pale, firm or dry and foul smelling. Usually

the bulk is more. The pH of the stool ranges from 5.5
to 7.5.
54
10
Neonatal Reflexes
Several transitory reflexes unique to the newborn

period have been described and are exploited to
examine the functional integrity and degree of maturity
of the nervous system. Ten of these reflexes are
routinely tested in clinical examination and are described
below. The age of appearance and disappearance of
these reflexes are shown (Fig. 10.1).
Moros Reflex (Figs 10.2a and b)

Method of Elicitation
Elicited by raising the head of supine infant and allowing
it to drop gently by 10 on to the examiners
supporting hand.
(a)
Fig. 10.1: Age of appearance and disappearance of reflexes

(Adapted from Fletcher MA (ed). Physical Diagnosis in
Neonatology, Lippincott-Raven Philadelphia)
(b)
Figs 10.2a and b: Moros reflex
Neonatal Reflexes
Normal Response
Suckling Reflexes (Fig. 10.4)
Abduction and extension of arm with opening of fingers

followed by adduction and anterior flexion of arm and
clenching of fists followed by crying. The responses are
better seen in upper limbs than in lower.
Method of Eliciting
55
Elicited by introducing clean finger into the mouth or

better by putting the baby to breast.
Normal Response
Abnormal Response
Incomplete: Prematurity (only abduction and
extension)
Less prominent: Asphyxia, meningitis, hypothermia,
kernicterus.
Asymmetrical: Erbs palsy, fracture of clavicle or
humerus, hemiplegia.
Exaggerated: Hypoxic ischemic encephalopathy
Normal response is vigorous sucking. It is present from

28 weeks of gestation and disappears by 4 months.
Abnormal Response
Absence of sucking at birth or persistence beyond
7 months indicates developmental defect.
Rooting Reflex (Fig. 10.3)

Method of Eliciting
By touching the corner of mouth lightly with finger tip.
Response
Bottom lip is lowered on the same side and tongue
moves towards the point of stimulating as finger slides
away, head turns to follow it. It is present from 28 weeks
but well elicited after 32 weeks. Sometimes it may not
be elicited immediately after feeding. Disappears by 4
months in awake state.
Swallowing Reflex (Fig. 10.4)
Abnormal Response
Method
Absence at birth or persistence beyond 7 months

indicates developmental defect.
Fig. 10.4: Suckling and swallowing
It is elicited by putting the baby to breast.

Normal Response
Rhythmical swallowing movements will be felt and seen
at neck. It is present at birth and disappears by 6-9
months.
Abnormal Response
Decreased or absent in general neurological depression,
hypotonia, immaturity and bulbar palsy.
Palmar Grasp (Figs 10.5a and b)
Method
Fig. 10.3: Rooting reflex
Elicited by applying pressure with index finger over

ulnar aspect of palm.
56
Fig. 10.5a: Palmar grasp
Fig. 10.6: Plantar grasp
Plantar Grasp (Fig. 10.6)

Method
It is elicited by pressing a finger against balls of the
infants foot.
Normal Response
Plantar flexion of toes. It is present at birth and
disappears by 6-9 months.
Abnormal Response
Fig. 10.5b: Palmar grasp
Note the reflex strong enough to lift the baby off the bed
Absent in spinal cord defects and asymmetrical in CNS

defects.
Placing Reflex (Fig. 10.7)
Normal Response
Method
Infant grasps finger tightly. It is present at 28 weeks,

but becomes strong by 32 weeks. At 37 weeks it
becomes so strong, the infant can be lifted off the bed.
It is elicited by holding the infant upright so that

dorsum of one foot touches the under surface of table
edge.
Abnormal Response
Normal Response
Exaggerated following severe bilateral cerebral

injury.
Infant lifts the stimulated leg and places over the

table.
Neonatal Reflexes
57
Normal Response
Is automatic walking. It is present at birth in full term
babies and disappears by 6 weeks.
Tonic Neck Reflex (Fig. 10.9)
This reflex differs from others in being less prominent
in the newborn period but becomes marked at a few
weeks of age
Fig. 10.7: Placing reflex
Abnormal
Absent in depressed and anencephalic babies.
Stepping (Fig. 10.8)
Fig. 10.9: Asymmetric tonic neck reflex
Method
Elicited by holding the baby upright with forward
inclination and bringing the feet in contact with the
surface.
Method
Elicited by rotating the head slowly from midline
position towards one side.
Normal Response
Consists of extension of upper limb on the side to which
the face is rotated and flexion of the limb on the other
side. Similar but variable of response is seen in lower
limbs.
Abnormal
The TNR is an important indicator of neurological
abnormality if the responses are excessive and
obligatory. When unilateral, it indicates brain damage
in the hemisphere opposite to the extended limbs.
Gallants Reflex (Fig. 10.10)
Method
Fig. 10.8: Stepping reflex
Elicited by ventrally suspending the baby and stroking

with finger tip down the paravertebral area.
58
Fig. 10.10: Trunk incurvation reflex
Normal Response
Abnormal Response
It is swinging of pelvis towards the stimulated

side.
This response may be useful as an aid in the localization

of spinal cord lesions.
Gestational Age Assessment
11
59
Determination of gestational age of a newborn infant

is important in classifying the infant, anticipating complications, and in predicting the outcome. Gestational age
is routinely estimated by calculation from date of last
menstrual period (LMP), antenatal ultrasound scanning
or by clinical examination of the infant after birth. In
many instances, exact date of LMP or records of
ultrasound examination may not be available or
reliable. In such circumstances clinical assessment
alone will be helpful. Clinical assessment is based on
changes in physical and neurologic characters with

gestational age based on these changes many scoring
systems have been described. One such system which
is most widely used is New Ballard Scoring System
which is described below. This system is reliable for the
entire infant population (from extremely premature to
post mature) and is least influenced by clinical
conditions of the baby or neurologic abnormality. There
are 6 neurologic and 6 physical parameters which are
shown below:
PHYSICAL PARAMETERS
1. Skin (Figs 11.1a and b)
Look for translucency over the abdominal wall and score
1
Sticky
Friable
Transparent
Gelatinous
Red
Translucent
Smooth
Pink
Visible veins
Superficial
peeling
and/or rash
Few veins
Cracking
Pale areas
Rare veins
Parchment
Deep crack
No veins
Lethargy
Cracked
Wrinkled
Fig. 11.1a: Preterm

baby skin
Fig. 11.1b: Term baby skin
60
2. Lanugo (Fig. 11.2)

Look for lanugo over the back and score
1
None
Sparse
Abundant
Thinning
Bald areas
Mostly bald
61
Fig. 11.2: Lanugo.

Note abundant lanugo in a preterm
3. Plantar Surface (Figs 11.3a and b)

Measure foot length from tip of great toe to back of heal
Look for deep cracks and score
1
Heal-toe
40-50 mm: 1
<40 mm: 2
>50 mm
No crease
Faint red marks
Anterior transverse
crease only
Creases anterior
2/3
Creases over
entire sole
Fig. 11.3a: Preterm baby-sole
Fig. 11.3b: Term sole
62
4. Breast (Figs 11.4a and b)

Pickup between finger and thumb, and assess
The development does not depend on the nutrition or sex
1
Imperceptible
Barely perceptible
Flat areola
No bud
Stippled areola
1-2 mm bud
Raised areola
3-4 mm bud
Full areola
5-10 mm bud
Fig. 11.4a: Preterm baby-breast. Note barely visible nipple
Fig. 11.4b: Term baby-breast. Note well-formed breast
5. Eye/Ear (Figs 11.5a and b)

Test for lid fusion by trying to separate the lids by gentle traction; they are inseparable if tightly fused.
a. Inspect upper pinna above meatus
b. For firmness, palpate and fold upper pinna and observe recoil
1
Lids fused
loosely (1)
Tightly (2)
Lids open,
pinna flat, stays
folded
Slightly curved
pinna, soft,
slow recoil
Well-curved
pinna, soft
but ready recoil
Formed and firm,

instant recoil
Thick
cartilage, ear
stiff
Fig. 11.5a: Preterm-ear
Fig. 11.5b: Term-ear
63
6a. GenitalsMale (Figs 11.6a and b)

Examine the level of testis
Examine rugosity of scrotal skin
1
Scrotum flat,
smooth
Scrotum empty,
faint rugae
Testes in upper
canal, rare rugae
Testes descending,
few rugae
Testes descending, Testes

few rugae
pendulous,
deep rugae
Fig. 11.6b: Preterm babyMale genitalia
Fig. 11.6a: Term babyMale genitalia
6b. GenitalsFemales (Figs 11.6c and d)

Labia minora and clitoris look prominent in preterms, gradually labia majora grow and completely cover minora
in term infants.
1
Clitoris prominent,
labia flat
Prominent clitoris,
small labia minora
Prominent clitoris,
enlarging minora
Majora and minora

equally prominent
Majora large,
minora small
Majora cover
clitoris and
minora
Fig. 11.6c: TermFemale genitalia
Fig. 11.6d: PretermFemale genitalia
64
NEUROLOGICAL PARAMETERS
Posture (Figs 11.7a and b)
Infant should be quiet and lie supine.
Fig. 11.7a: Term babyposture
Fig. 11.7b: Preterm babyposture
Square Window (Wrist) (Figs 11.8a and b)

Flex hand on forearm
Estimate angle between forearm and hypothenar eminence
Fig. 11.8a: Term square window
Fig. 11.8b: Preterm square window

Arm Recoil (Figs 11.9a and b)
Infant supine
Take both hands
Flex forearms
Extend parallel to the body and release
Observe recoil at elbow.
Fig. 11.9a: TermArm recoil
Fig. 11.9b: PretermArm recoil
Popliteal Angle (Figs 11.10a and b)
Infant supine
Approximate knee and thigh to abdomen
Extend leg by gentle pressure with index finger behind ankle
Estimate the angle.
Fig. 11.10a: Term babyPopliteal angle
Fig. 11.10b: Preterm babyPopliteal angle
65
66
Scarf Sign (Figs 11.11a and b)

Infant supine
Pull arm to try to wrap it around the opposite: note elbow position and score.
Fig. 11.11a: Term babyScarf sign
Fig. 11.11b: Preterm babyScarf sign
Heel to Ear (Figs 11.12a and b)

Infant supine
Draw foot towards head leave knee free
Observe distance between foot and head and score.
Fig. 11.12a: Term babyHeel to ear
Fig. 11.12b: Preterm babyHeel to ear
DECIDING THE GESTATIONAL AGE

After obtaining the total score gestational age is assessed
with the help of maturity rating chart given on the right
side of figure. For example, score of 25 suggest a

gestational age of 34 weeks and so on.
Anthropometry
12
67
Anthropometry
Anthropometry is concerned with the measurement of

physical dimensions of the body. Selected body
measurements can give valuable information regarding
certain types of abnormalities. The period from 24 to
44 weeks after conception is characterized by remarkable growth. The body composition changes
dramatically as the infant accretes muscle, fat and bony
tissues. The interruption of these growth processes by
various factors like genetic or environmental will result
in abnormal morphology of an infant. The body

measurements commonly employed in anthropometry
include length, weight, skin fold thickness, head
circumference, and chest circumference.
There is another related subject called Morphometry
where special measurements are taken whenever one
comes across a dysmorphic infant. These special
measurements may be a characteristic abnormality of
a syndrome and help in syndrome delineation.
BIRTH WEIGHT (Figs 12.1a to h)

Birth weight is one that is recorded within an hour of
birth. Either a good spring weighing scale (Fig. 12.1c)
or preferably beam balance scale (Figs 12.1a and b)
is used for the purpose. The best available scale is
electronic scale (Fig. 12.1d). It shows a reading that is
correct up to one Gm. All the scales should be adjusted
to zero before using. For weighing newborns in villages
Fig. 12.1a: Weighing using a beam balance
Fig. 12.1b: Beam balance
68
Fig. 12.1c: Spring balance
Fig. 12.1f: Maternal height corresponds to

babys birth weight
Fig. 12.1d: Electronic weighing scale
Fig. 12.1g: Salter scale (Spring type scale)
Fig. 12.1e: Maternal mid-arm circumference.

Corresponds to babys birth weight
Fig. 12.1h: Bar scale
Anthropometry
or homes, in clinics and hospitals, small weighing scale
with a dial gives fairly good reading. Such a scale can
be hung from a hook (Figs 12.1g and h) Use a sling
made from cloth or nylon to hold the child. Fix the
scale at eye level for correct reading.
The beam balance scale is used in permanent clinics.
It is accurate, must be kept clean and correctly
adjusted. The other precautions to be taken while
weighing children include:
i. Naked baby should be kept on a clean towel or
paper on the scale pan.
ii. The sick or premature infant can sometimes be
weighed in an incubator using a spring balance.
iii. In home delivery, weight should be taken by
placing the baby in a sling using a simple spring
balance.
Other scales used in the community (color-coded
weighing scale): It is a simple instrument to find out birth
weight. It is a cylindrical instrument with a hook at lower
end and a bar to hold the scale at the upper end. The
weights are marked up to 5 kg with 100 gm divisions.
A newborn weighing less than 2.5 kg is low birth weight
(LBW) and hence the scale is colored yellow and red
to indicate LBW.
Before using the scale, ensure that the pointer is at
zero if possible check against known weights. Fold the
corners of a clean piece of cloth into a hammock.
Place the baby in the hammock, keeping your left
hand underneath if baby slips. Hold the weighing scale
by the right hand with the help of the bar. Check the
weight by the color now visible on the color-coded scale.
If the weight falls in red or yellow color zone, the baby
is of LBW and should be at your special attention.
Always keep the scale at eye level while measuring the
weight. Never hang weights heavier than 5kg.
An important point to be remembered is that birth
weight falls in the first five days (not >10% of birth
weight) and is regained on the 10th day. Subsequently,
in a term baby daily weight gain is around 25 to
30 g.
Other uses of recording weight in newborn are:
i. Monitoring of weight is a sensitive parameter for
assessment of nutrition status and its progress.
69
ii. To assess fluid balance.

iii. To assess cardiopulmonary status.
iv. To assess renal status and to assess response to
therapy.
One should know that maternal mid-arm circumference (Fig. 12.1e) and maternal height (Fig. 12.1f)
have significant influence on her childs birth weight.
Length (Figs 12.2a to c)
Length can be taken most accurately with a measuring
table or a board with a fixed head piece on which the
infant lies supine with his or her legs fully extended. It
is necessary to press the knees lightly back to ensure
Fig. 12.2a: Infantometer
Fig. 12.2b: InfantometerMat type
70
Fig. 12.2c: Measuring length using infantometer
maximum length. The feet should be pressed against

the movable foot piece with the ankles fixed to 90.
The length is recorded on a scale (infantometer). Two
persons are needed to hold the baby correctly
(preferably not the mother) and take the measurement.
This type of board is difficult to use in an incubator,
so the length is measured with ruler or a tape. A
specially designed measuring mat type infantometer
may be used in peripheral setting.
Note: The length need not be taken immediately if
the babys condition gives rise to anxiety but should
be recorded certainly in the first 3 days.
occipitofrontal diameter. Other type of tapes may

stretch after repeated measures and may also carry
infection between infants; hence, the tapes should be
frequently reversed or sterilized with antiseptic lotion,
e.g. Savlon, chlorhexidine. Dettol is not satisfactory as
it is a weak antiseptic agent.
Normally head circumference is 33 cm in a term
baby. Head circumferences are usually 2-3 cm larger
than the chest circumference. A head circumference is
less than 10th percentile or more than 90th centile
(NCHS charts) is abnormal.
Chest Circumference (Figs 12.4a and b)
Chest circumference is measured at nipple line in midexpiration using nonstretchable fiberglass tape. Normal
chest circumference is 30-33 cm.
Head Circumferences (Fig. 12.3)

Head circumference measurement may change slightly
during the first 3 days owing to molding during labor,
scalp edema or bruising and cephalhematoma. It is
taken with a nonstretchable fiberglass tape at the
Fig. 12.3: Head circumference
Figs 12.4a and b: Chest circumference
Anthropometry
Mid-arm Circumference (MAC) (Fig. 12.5)
Long Anteroposterior Diameter of the Head
Studies have shown that the MAC values can be used

as a surrogator for birth weight, because weighing
children in remote places is difficult. A MAC of less than
8.5 cm is associated with increased risk of morbidity and
mortality. It is measured using a nonstretchable fiberglass
tape, conventionally on left arm, between the acromion
and the olecranon process, when the arm is kept by
the side of the trunk. A mid-arm circumference of less
than 8.7 cm is indicative of low birth weight (<2.5 kg).
Overgrowth
Cerebral gigantism (Sotos syndrome)
Marshall syndrome
71
Skeletal
Pyknodysostosis
Achondroplasis
Facial genital defects
G syndrome (Opitz-Frias)
Smith-Lemli-Opitz syndrome
Others
X-linked hydrocephalus
Oto-palato-digital syndrome (Taybi)
Marfan syndrome
Short Biparietal Diameter
Sagittal craniosynostosis
Wide Biparietal Diameter
Fig. 12.5: Mid-arm circumference
SPECIAL MORPHOMETRY
Head
The measurements of the neonatal head are useful to
diagnose syndromes, which include short anteroposterior diameter, long anteroposterior diameter, short
biparietal diameter, wide biparietal diameter, microcephaly, and macrocephaly. Some of the common
syndromes associated are listed below.
Short Anteroposterior Diameter of the Head
Craniosynostosis
Acrocephalosyndactyly type I (Apert syndrome)
Acrocephalosyndactyly type III (Saethre-Chotzen
syndrome)
Cranio-oculo-dental syndrome
Craniofacial dysostosis (Crouzon syndrome)
Chromosomal syndromestrisomy 21
Syndromes9q+
Craniosynostosis
Cranio-oculodental syndrome
Others
Thanatophoric dwarfism
HallermannStreiff syndrome
KBG syndrome
Eyes
Eye measurements in the newborn are useful in
determining hypotelorism, hypertelorism, dystopia
canthorum (increased distance between outer canthi),
and short and long palpebral fissures. Common
conditions associated with abnormalities of these
measurements are listed below.
Inner Canthal Distance (Fig. 12.6)
The distance between the medial canthi of the left and
right eye is measured. The measurement is taken by
placing the Vernier calipers edges one on either side of
the medial canthi. It should be taken when the child
is relaxed.
72
Fig. 12.6: Inner canthal distance
Fig. 12.8: Interpupillary distance
Outer Canthal Distance (Fig. 12.7)
Interpupillary Distance (Fig. 12.8)
This is the distance between the outer canthi of right

and left eye. It is measured by placing the two tips of
the calipers on the lateral canthi. This is again measured
when the neonate fully is relaxed. Care should be taken
not to apply any pressure, as this would cause reflex
contraction of the orbicularis oculi muscle thus
shortening the distance.
The interpupillary distance is measured by joining the

central points of the pupils of both eyes when the
neonate is in the third state of wakefulness. This
measurement takes considerable time. One has to take
utmost care to avoid injury to the eye. Interpupillary
distance is better derived by the formula
Interpupillary distance (IPD) = 0.7 + 0.59 Inner
canthal distance + 0.41 Outer canthal distance
Hypertelorism is said to be present when IPD is
more than 2 SD and hypotelorism is said to be presnt
when IPD is less than 2 SD (Ref Merlab et al).
Palpebral Fissure Size
This is the distance between the two canthi of the eyes
measured by placing the edges of calipers at the two
canthi of an eye.
Fig. 12.7: Outer canthal distance
Syndromes associated with ocular hypertelorism

Aarskog
Hypochondroplasia
Apert
Kniest
Basal cell nevus
Chromosome 5pCraniocarpotarsal dysplasia Chromosome 13 pCrouzon
Chromosome 13 ring
Fetal hydantoin
Chromosome 18 pFocal dermal hypopalsia
Chromosome 18 p-
Anthropometry
GMl gangliosidosis, type 1
Larsen
Meckel
Median cleft face
Mucopolysaccharidosis 1-H
Noonan
Multiple cartilaginous
exostosis
Oculodentosseous dysplasis
Potter
Robinow
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
14 q
Saethre-Chotzen
Duplication
15p
Stickler
Trisomy 9
Craniometaphyseal dysplasia XXY
2q3q
3q
4q
7q
10q
9p
11p
11q
of proximal
Eyes
Others
of proximal
Syndromes associated with ocular hypotelorism

Baler-Gerold
Chromosome 13 q
Holoprosencephaly
Chromosome 13 ring
Meckel
Duplication of proximal
14 q
Apert
Duplication 6q
Goldenhar
Duplication 11p
Kleeblattschadel anomaly
Duplication of proximal
15 q
Otopalatodigital
Duplication 20 p
Rubinstein-Taybi
Xo (Turner)
Treacher Collins
9q +
10q +
18q+
14 q proximal partial
trisomy
Blepharophimosis
syndrome
Ankyloblepharon
Fetal alcohol
syndrome
Dubowitz syndrome
Williams syndrome
G syndrome (OpitzFrias)
Syndromes associated with long palpebral fissure

Multiple congenital malformations pattern
Ears
The measurements of the external ear (pinna) are useful
for the diagnosis of:
Small ears (microtia)
Large or long ears (macrotia)
Low-set ears
Ear Length (Fig. 12.9a)
Measurements are made by placing the caliper
along the greatest vertical axis of the ear, including the
lobe.
Syndromes associated with dystopia canthorum

Waardenburg syndrome
Orofaciodigital syndrome II (Mohr)
Acrocephalopolysyndactyly type II (Carpenter
syndrome)
Frontonasal dysplasia
Orofaciodigital syndrome I
Basal cell nevus syndrome (occasional)
Oculo-dento-digital syndrome I (occasional)
Blepharophimosis syndrome
Syndromes associated with short palpebral fissure
Chromosomal syndromes
- trisomy 18
- 7q+
73
Fig. 12.9a: Ear length
74
Fig. 12.9b: Ear breadth
Ear Breadth (Fig. 12.9b)

Two rulers should be used, one placed on the anterior
most limit of the tragus and the other on the posterior
most point of the helix, and the distance between them
measured. Care should be taken to maintain the rulers
parallel to each other.
Ear above Eyeline and Percent Ear above
Eyeline (Fig. 12.10)
Ear above eyeline is calculated by measuring the
distance from the superior aspect of the ear to the line
at the inner canthi level. Percent of ear above eyeline
is then determined by
Ear above eyeline
Total ear length

The above three values are used to knowEar
length, ear above eyeline percent of ear above eyeline.
The associated conditions of abnormalities of these
measurements are given below. Ears are said to be low
set if the ear above eyeline is less than 15% of total
ear length.
Fig. 12.10: Ear setting
Acrocephalosyndactyly type I (Apert syndrome)

Facial defects
Mandibulofacial dysostosis (Treacher Collins
syndrome)
Bixler syndrome (Hypertelorism, microtia, facial
clefting)
Hemifacial microsomia
Moebius syndrome
Facial-limb defects
Craniosynostosis-radial aplasia syndrome
Ear defects
Auditory canal atresia
Deafness and ear pits
Lop ear
Small Ears
Skeletal
Auriculo-osteodysplasia
Klippel-Feil syndrome
Cleidocranial dysplasia (dysostosis)
Fanconi anemia
Craniofacial defects
Trisomy 21
Anthropometry
Trisomy 13
18pDrugs
Thalidomide syndrome
Infections
Rubella syndrome
Others
C syndrome
Renal, genital, and middle ear anomalies
Congenital heart disease (transposition of the great
vessels and hydroureter)
Long Ears
Chromosomal syndrome
XXY syndrome
Monosomy G
Trisomy 18
Trisomy 13
Leprechaunism
Potter sequence
Deafness, peripheral pulmonary stenoses and
brachytelephalangy
Marfan syndrome
Low-set ears
Craniofacial defects
Acrocephalosyndactyly type II (carpenter syndrome)
(occasional)
Facial defects
Mandibulofacial dysostosis (Treacher Collins
syndrome)
Oculo-auriculo-vertebral dysplasia (Goldenhar
syndrome)
Frontonasal dysplasia (occasional)
Drugs
Fetal hydantoin syndrome
Fetal aminopterin syndrome
Tricho-rhino-phalangeal syndrome, type II (LangerGiedion syndrome)

Cerebro-oculo-facio-skeletal syndrome (COFS)
Trisomy 8+
4p 4p+
5p 7q+
8+
9+
10q+
trisomy 13
13q+
14q+
15q+
18+
18p 18q 21q 22+
22q Penta X
XXXXY
Others
Osteodysplasty (Melnick-needles syndrome)
Others
Potter sequence
Large Ears (macrotia)

Trisomy 8+
9+
13q+
13q 13 (q32-13q)
18p 21q 22+
22qEar defects
Lop ears
Arteriovenous fistula of ear
Auditory canal atresia
Facial-skeletal defects
75
76
Camptomelic dwarfism
Iris coloboma and anal atresia syndrome
(occasional)
Cutis laxa-growth deficiency (occasional)
Leprechaunism
Philtrum (Fig. 12.11)
This is the nasolabial groove above the upper lip. The
upper limit is the groove where it joins the tip of the
nose, and the lower limit, were it joins the lip.
Fig. 12.12: Mouth width
Fig. 12.11: Philtrum length
Long philtrum is seen in 4p+, 9p-, 10+, 12p+,

22q- chromosomal syndromes, femoral hypoplasia
unusual facies syndrome, Freeman-Sheldon syndrome,
Trichorhinophalyngeal syndrome (Type I and II),
Blepharonasofacial syndrome, acrodysostosis, Tel
Hashomer camptodactyly syndrome, Robinow
syndrome, deLange syndrome, Williams syndromes,
generalized gangliosidosis, C-syndrome and Marden
Walker syndrome.
Short Philtrum is seen in 4p-, 5p-, 9p+ chromosomal syndromes, oro-facio-digital syndromes type I,
cleft palate lateral synechia syndrome, DiGeorge
sequence and Cohens syndrome.
Mouth Width (Fig. 12.12)
This is the distance between the two lateral angles of
the mouth. This measurement was taken without
touching any part of the face, because even a light
touch over the skin of any region around the mouth
provoked the rooting or sucking reflexes.
Large mouth or macrostomia is seen in Goldenhar

syndrome, Hemifacial microsomia, Treacher Collins
syndrome, Facial cleft, 18p-syndrome, 18q-syndrome,
Beckwith-Wiedemann syndrome, Morquios syndrome,
Scheie syndrome, Kniest dysplasia, Robinow syndrome,
Williams syndrome, C- syndrome, Opitz-Kaveggia FG
syndrome and Coffin-Lowry syndrome.
Small mouth or microstomia is seen in Trisomy 18
syndrome, Treacher Collins syndrome, Bixler
syndrome, Hallermann Streiff syndrome, Otopalatodigital syndrome, Freeman-Sheldon syndrome,
Hypoglossia hypodactylia syndrome and Marden
Walker syndrome.
Palm Length and Palm Breadth
(Figs 12.13a and b)
These measurements are used to determine the size of
the hand. Palm length is obtained by measuring the
distance between the distal flexion crease at the wrist
to the proximal flexion crease of the third (middle)
finger. This is the most simple of the measurements
since one can apply the caliper firmly and without fear
of injury.
Anthropometry
Fig. 12.13a: Palm length
77
Fig. 12.14: Middle finger length
Syndromes Associated with Short Hands

Aarskog
Cerebrohepatorenal
Coffin-sinis
De lange
Fanconi anemia
Fig. 12.13b: Palm breadth
Middle Finger Length (Fig. 12.14)

The length of the middle finger is obtained by
measuring the distance between the proximal flexion
crease of the middle finger to the tip. The length of the
middle finger as percentage of the total hand length
size remains fairly constant from newborn period to age
fourteen (42-43%).
Total Hand Length
Total hand length is obtained by adding the palm length
to the finger length. It must be noted that in some
conditions the total hand length may be normal but
the ratio of finger to palm length may be abnormal.
Prader-Willi
Robinow
Smith-Lemli-Opitz
Achondroplasia
Asphyxiating thoracic
dysplasia
Fetal hydantoin
Ellis-Van Creveld
Fetal warfarin
Cranioectodermal dysplasia
Focal dermal hypoplasia Diastrophic dysplasia
GMI gangliosidosis type 1
Hypoglosis-hypodactylia Pseudoachondroplasia
Mucolipidosis II
Mucopolysaccharidosis,
1H, I-S, II, III
Duplication 2q
Orofaciodigial 1
Duplication 8 mosaicism
Otopalatodigital
Trisomy 21
Pfieffer
Internipple Distance (Fig. 12.15)
The distance between the two nipples is taken using the
medial side of the nipples as end points.
Widely spaced nipples are noted in Turners,
Noonans, 4 p+, 18 p -, 18 q-, fetal hydantoin, Trisomy
18 and Fraser syndromes, whereas narrowly spaced
nipples are seen in asphyxiating thoracic dystrophy.
Penile Length (Fig. 12.16)
Penile length in the newborn infant is determined from
the pubic ramus to the tip of the glans penis. The
78
Fig. 12.15: Internipple distance
Fig. 12.17a: Foot length
Fig. 12.16: Penile length
Fig. 12.17b: Toe length
location of the tip of the glans penis is determined by

palpation. The stretched penile length was obtained.
This correlates closely with erect penile length.
Micropenis is a feature of many syndromes. A few
of the examples include anencephaly sequence,
Carpenter syndrome, CHARGE association, Meckel
Gruber syndrome, Noonan syndrome, Prader-Willi
syndrome, Robinow syndrome, Triploidy syndrome,
XXXXY syndrome and XXY syndrome.
Foot Length (Figs 12.17a and 17b)
First the distance between proximal flexion crease of
the sole at the base of 2nd toe to the tip of the sole
is measured. Then the distance from the proximal
Fig. 12.17c: Foot breadth
Anthropometry
crease to the top of the 2nd toe is measured. These
are added to get total foot length. Foot breadth is
sometimes measured to determine small or large feet
along with other measurements (Fig. 12.17c).
Foot length measurements are useful in evaluation
of skeletal dysplasia as well as nonskeletal syndromes.
A large foot is seen in cerebral gigantism, Cockayne
syndrome and leprechaunism. Long metatarsals,
resulting in long feet are seen in Marden-Walker
syndrome and Trevor disease. Short feet are seen in
Prader-Willi syndrome, 15q+ syndrome, various types
of brachydactyly and other syndromes with short
metatarsals like Cohens syndrome, Coffin-Siris
syndrome, Roberts syndrome, Weaver syndrome, etc.
BIBLIOGRAPHY
1. Feingold M, Bossert WH. Normal values for selected
physical parameters; An aid for syndrome delineation.
2.
3.
4.
5.
6.
7.
8.
9.
79
New York: The national; foundation March of Dimes

BD:OAS X(13), 1974
Kulkarni ML, Rehman M. Neonatal assessment beyond
birth weight. Indian Pediatr 1991; 28:922-31.
Kulkarni ML, Rajendran NK. Normal values for penile
standards in newborn. Indian Pediatr 1991;28:1341-43.
Kulkarni ML, Rajendran NK. Internipple distance in the
newborn. Indian Pediatr 1992; 29:619-20.
Kulkarni ML, Rajendran NK, Sangam DK. Intercanthal,
outer canthal and interpupillary distances in newborn,
Indian Pediatr 1992; 29: 759-63
Kulkarni ML, Rajendran NK. Values for foot length in
newborn. Indian Pediatrc 1992;29:507-09.
Kulkarni ML, Rajendran NK. Values for mouth and ear
measurements in newborn. Indian Pediatr 1992;29: 35760.
Kulkarni ML, Rajendran NK. Values for total hand length
in newborn from 24-42 weeks gestation. Indian Pediatr
1992; 29:917-19.
Merlob P, Sivan Y, Reisner SH March Of Dimes birth
defects foundation. Birth defects original article series , Vol
20 1984 White Plains New York.
80
13
Classification of
Newborns and Problems of
Low Birth Weight
Classification of newborn infants is important to

anticipate problems in the immediate neonatal period
and to decide on the level of care to be given. It is also
one of the important determinants of long-term
outcome. Newborns are classified based on different
parameters like birth weight, gestational age and a
combination of both.
Classification Based on Gestational Age

(Figs 13.2a and b)
1. Preterm: Babies born before the gestational age of
completed 37 weeks.
Classification Based on Weight (Fig. 13.1)

1. Low birth weight (LBW): Babies with birth weight
less than 2500 gm
2. Very low birth weight (VLBW): Babies with birth
weight less than 1500 gm
3. Extremely low birth weight: Babies with birth weight
less than 1000 gm
Fig. 13.2a: Preterm baby
Fig. 13.1: Babies of different weight groups
Fig. 13.2b: Postterm baby
Classification of Newborns and Problems of Low Birth Weight
Fig. 13.3a: Reference curve for weight for gestational

age for Indian babies developed at AIIMS New Delhi
Fig. 13.3b: Reference curve for weight for gestational age

(Lubchenco or International Curve)
2. Term: Babies born between 37 and 42 weeks of

gestational age.
3. Postterm: Babies born after 42 weeks of gestational
age.
Classification Based on Birth Weight for
Gestational Age (Figs 13.3a and b)
Taking these two parameters into consideration, infants
have been classified based on established population
norms. Reference curves of weight for gestational ages
have been established. Commonly used curve is
Lubchenco curve established for North American
population. Similar curve for Indian population has also
been established. Both these curves are given below.
1. Small for gestational age (SGA) (Fig. 13.4a): Less
than 10th centile on reference curve.
2. Appropriate for gestational age (AGA): Between
10th and 90th centile on reference curve.
3. Large for gestational age (LGA) (Fig. 13.4b): above
90th centile on reference curve.
81
Fig. 13.4a: Small for gestational age IUGR baby
82
b. AGA
c. LGA
III. Postterm
a. SGA
b. AGA
c. LGA
Low Birth Weight Babies
The term low birth weight (LBW) baby refers to any
infant born with a weight of less than 2500 g irrespective
of his gestational age. Low birth weight could be due
to prematurity or growth retardation (IUGR), or a
combination of both. In developing countries growth
retardation accounts for a larger proportion of LBW.
One-third of the babies born in India are LBW and
among them one-third are preterm and two-third are
growth retarded. The problems of both types of LBW
babies are listed in the following table, separately,
though overlapping is common (Table 13.1).
Fig. 13.4b: Large for gestational age baby
Classification Based on Weight for

Gestational Age
Thus we have 9 categories of babies which allow
clinicians to anticipate problems in the immediate
neonatal period and long-term outcome.
I. Preterm
a. SGA
b. AGA
c. LGA
II. Term
a. SGA
IUGR Babies (Fig. 13.4a)

IUGR is not synonymous with SGA. Infants with IUGR
may or may not be SGA. IUGR is deviation of birth
weight from predetermined genetic potential. Two types
of IUGR have been recognized: symmetric and
asymmetric. They are summarized in Table 13.2.
Table 13.1: Common problems of LBW babies

IUGR
Intrauterine fetal demise

Prenatal asphyxia
Meconium aspiration syndrome
Hypoglycemia
Polycythemia-hyperviscosity
Reduced oxygen consumption
Hypothermia
Dysmorphology
Preterm
Hyaline membrane disease

Chronic lung disease
Recurrent apnea
Patent ductus arteriosus
Bradycardia
Hyperbilirunemia
Internal organ hemorrhage
Poor GI motility
Hypocalcemia
Hyperglycemia
Hypothermia
Intraventricular hemorrhage
Kernicterus
Electrolyte disturbances
Infections
Modified and adapted from Behrman RE, Kleigman RM, Jenson HB eds. Nelson
Textbook of Pediatrics, 16th edn, 479, W.B. Saunders company Philadelphia.
Classification of Newborns and Problems of Low Birth Weight

Table 13.2: Showing differences between symmetric and asymmetric IUGR
Age of onset
Pattern of retardation
Head size
Ponderal index
Catch up growth
Genetic growth potential
Causes
Symmetric
Asymmetric
Early
Symmetric
Decreased
Normal
Less
Not attainable
Congenital viral infections
Chromosomal disorders
Single gene deletions and
other genetic disorder
Anomalad syndromes
Late
Asymmetric
Normal
Decreased
More
Attainable
Chronic fetal distress
Pre- eclampsia
Chronic hypertension
Diabetes mellitus
Poor maternal nutrition
Table 13.3: Etiology of intrauterine growth retardation

Intrinsic
Extrinsic
Constitutional
Maternal systemic disease (cardiac, renal, respiratory,

collagen disorders, proteinuric hypertension)
Maternal starvation and chronic malnutrition
Alcohol, substance abuse and smoking
High altitude
Placental vascular anomalies
Maternal diabetes mellitus
Congenital anomalies
Fetal infections
Teratogenic drugs/chemicals
Ionizing radiation
Typical Features of IUGR Babies

Relatively large head
Scaphoid abdomen
Rough, dry and parchment like skin which
desquamates easily
Long fingernails
Relatively large hands and feet
Wise old person like face
Wide or overriding sutures
Large anterior fontanel
Thin umbilical cord.
IUGR babies can develop later complications like
diabetes mellitus, hypertension and glomerulosclerosis
(Barkers hypothesis). The pathogenesis of this
interesting phenomenon is given in Figure 13.5.
Fig. 13.5: Pathogenesis of fetal injury by maternal

dietary protein deprivation
83
84
14
Clinical Assessment of
Nutrition Status (CANS)
at Birth
The terms fetal malnutrition (FM), intrauterine growth

retardation (IUGR) and small for gestational age (SGA)
are not synonyms; one may occur without the other.
Correct meanings of these terms should be understood
to classify an infant.
SGA: An infant is called small, based on weight cutoff
(for ex <10th percentile) derived from population
norms.
IUGR: This means deviation of fetal growth from a
predetermined genetic potential due to adverse effects
in the intrauterine period.
FM: It is a clinical diagnosis and indicates malnourished
clinical state of infant of any birth weight (SGA, AGA,
LGA.
CANSCORE
A scoring system has been devised by Metcoff to
clinically assess the nutritional status of a newborn infant.
The system has nine components with each component
rated from 4 (best) to 1 (worst). The sum of rating of
each of the nine CANS signs is the CANSCORE. This
can range from 9 (lowest) to 36 (highest). After studying
1382 singleton term babies, scores less than or equal
to 24 were taken as clinical evidence of malnutrition.
Significance: About half of SGA and 5% of AGA
babies have been shown to be malnourished and about
40% of fetally malnourished infants will develop
neurologic and intellectual handicaps later in life. Thus,
assessment of nutritional status is more important than
SGA and IUGR alone in prognosticating long-term

outcome.
CANS
Nine signs for assessing nutritional status in
newborn term-infants: Each of the signs is rated from
4 (best) or 1 (worst). The CANSCORE is the sum of
nine CANS signs (Fig. 14.1).
Hair (Figs 14.1a and b): Large amount, smooth,
silky, easily groomed (4 points); thinner, some straight
staring hair (3 points); still thinner, more straight, with
depigmented hair that does not respond to brushing
(2 points); and straight staring hair with depigmented
stripe (flag sign).
Cheeks (Figs 14.2a and b): Progression from full
buccal pads and round face (4 points); to significantly
reduced buccal fat with narrow, flat face (1 point).
Neck and chin (Figs 14.3a and b): Double or triple
chin fat folds, neck not evident (4 points); to thin chin,
no fat folds, neck with loose, wrinkled skin very evident
(1 point).
Arms (Figs 14.4a and b): Full, round, cannot elicit
accordion folds or lift folds of skin from elbow or
triceps area (4 points); to striking accordion folding of
lower arm elicited when examiners thumb and fingers
of the left hand grasp the arm just below the elbow
of the baby and thumb and fingers of the examiners
right hand circling the wrist of the baby are moved
toward each other; skin is loose and easily grasped and
pulled away from the elbow (1 point).
Clinical Assessment of Nutrition Status (CANS) at Birth
85
Fig. 14.1a: Hair large amount smooth and silky
Fig. 14.1b: Hair thin straight and depigmented
Back (Figs 14.5a and b): Difficult to grasp and lift

skin in the interscapular area (4 points); to skin loose,
easily lifted in a thin fold from the interscapular area
(1 point).
Buttocks (Figs 14.6a and b): Full, round gluteal fat
pads (4 points); to virtually no evident gluteal fat and
skin of the buttocks and upper, posterior thigh loose
and deeply wrinkled (1 point).
Legs (Figs 14.7a and b): Like arms.
Fig. 14.1: Signs for assessing nutritional status
Chest (Figs 14.8a and b): Full; round ribs not seen
(4 points), to progressive prominence of the ribs with
obvious loss of intercostal tissue (1 point).
86
Fig. 14.2a: Full buccal pad, round face
Fig. 14.2b: Reduced buccal pad and flat face
Fig. 14.3a: Double chin fat fold with not so evident chin
Fig. 14.3b: Thin chin with no fat fold
Fig. 14.4a: Full round arms
Fig. 14.4b: Arm with loose skin
Clinical Assessment of Nutrition Status (CANS) at Birth
87
Fig. 14.5a: Difficult to grasp and lift skin in the

interscapular area score 3
Fig. 14.5b: Easily-lifted interscapular skin
Fig. 14.6a: Full round gluteal fat pads
Fig. 14.6b: No evident gluteal fat with loose, wrinkled skin
Fig. 14.7a: Absent accordion
Fig. 14.7b: Accordion in legs
88
Fig. 14.8a: Full round chest and ribs not visible
Fig. 14.8b: Loss of intercostal tissue and prominent ribs
Fig. 14.9a: Full round no loose skin
Fig. 14.9b: Abdomen with loose and wrinkled skin
Abdomen (Figs 14.9a and b): Full, round, no loose

skin (4 points) to distended or scaphoid, but with very
loose skin, easily lifted, wrinkled, and accordion folds
demonstrable (1 point).
BIBLIOGRAPHY
1. Metcoff J. Clinical assessment of nutritional status at birth.
Pediatr Clin North Am 1994;41:875.
Feeding of Newborns
15
Feeding of Newborns
BREASTFEEDING
Devine blessing
Oh! Lucky woman,
Let all the four oceans,
Through your breast milk,
Impart strength to your child
Just like God became immortal
By drinking Amrutha, let your
Child become healthy and
strong by drinking nectar (Amrutha) of your breast milk!
Kashyap Samhita
3000 years ago
Breastfeeding is encouraged in Indian culture from
time immemorial and people have accepted it as a
natural way of infant feeding. But, there are still a large
proportion of babies who are not exclusively breastfed
in the first six months and practices like discarding
colostrum, offering prelacteal feeds continue to cause
great morbidity and mortality. It is the responsibility of
all health care providers to make everyone understand
that human milk is for human infants.
BENEFITS OF BREASTFEEDING
Benefits to the Baby
Complete food
Species specific
Individual specific
Easily digested
Well absorbed
89
Enhances brain growth

Better bioavailability of Fe and Ca
Helps emotional bonding
Low solute load on kidneys
Anti-infective property
Prevents allergy
Decreases the risk of later development of diabetes
mellitus, heart disease, cancer
Better IQ in later life
Benefits to the Mother
Quick involution of uterus
Promotes bonding
Exclusive breastfeeding acts as a contraception for
first 6 months
Less work for mother
Prevents ovarian/breast cancer in later life
Benefits to Family
Monetary benefit
Family planning benefit
Better child survival
Benefits to the Nation
Saves huge foreign exchange (see below)
Contributes to child survival
Decreases healthcare costs
BREAST MILK A NATIONAL WEALTH!

Annual births in India: 24.38 million
90
After correcting for IMR (73 per 1000): 22.6 million

These 22.6 million lactating mothers produce 8093
million liters of milk
At the present cost of cows milk (Rs 15/L) it would
be: 6000 crores !!
(Source: C Gopalan, NIN)
Cost of Artificial Feed
Rs 6000 in the first 6 months

40% of income of skilled worker
25% income of class IV
12% of income of a graduate teacher
TYPES OF BREASTFEEDING
This is depicted in the following Flow chart 15.1.
Table 15.1: Immunologic factors in human milk

Secretory IgA
Bile salt stimulated lipase: inactivates Giardia lamblia and
Entamoeba histolytica
Bifidis factor: promotes the growth of lactobacilli in the
gut
Cells: active mononuclear and polymorphonuclear
Complement components: opsonic and bacteriolytic activity
Lactoferrin: binds iron and inhibits some bacteria, fungi
Lactoperoxidase: oxidation of bacteria
Lipids: inactivate lipid enveloped viruses
Lysozyme: antibacterial
Nonantibody proteins: inhibit bacterial adherence
Gangliosides: interfere with attachment of enterotoxin
Nonlactose carbohydrate factors: prevent action of toxins
Other macromolecules: inhibit viral attachment, penetration,
or activity
Trypsin-inhibitors: inhibits rotavirus
Adapted from Goldfarb J. Clin Perinatal 1993 ; 20: 225-243.
ANATOMY OF THE BREAST (Fig. 15.1)

Breast is an exocrine gland which consists of 15-20
lactiferous glands. Each lactiferous gland consists of a
bunch of alveoli lined by milk secreting alveolar cells.
Surrounding alveoli are myoepithelial cells which, on
contraction cause expulsion of milk. All the alveoli drain
into small ducts and each duct has a dilated sinus
(lactiferous sinus) at the subareolar area where milk
collects. All ducts open on to the nipple.
PHYSIOLOGY OF LACTATION
Lactation is the physiologic completion of the
reproductive cycle. Many hormones interplay in the
physiology of lactation, and are described as four
hormonal reflexes below.Three more neonatal reflexes
that are involved in breastfeeding are shown in the
picture (Fig. 15.2a)
Flow chart 15.1: Types of breastfeeding. (Scheme for breastfeeding definition from
Ruth A. Lawrence Breastfeeding 4th edition Mosby yearbook inc).
Feeding of Newborns
Fig. 15.1: Anatomy of breast. Milk is made in the alveoli, It

is ejected from lactiferous sinuses (Action of myoepithelial
cells)
91
Fig. 15.2a: Neonatal reflexes. Three reflexes of the babies

that help successful feeding are rooting sucking and
swallowing reflexes a well coordinated sequence of the three
reflexes is needed for successful feeding
Prolactin Reflex (Fig. 15.2b)

The Reflex
Suckling by baby
Stimulation of nerve ending in nipple and areola
Message is carried to hypothalamus via vagus
Stimulation of anterior pituitary to secrete prolactin into

circulation
Prolactin in breast stimulates

epithelial cells to produce milk
Factors promoting
Early suckling
Frequent suckling
Prolonged suckling
Strong and good attachment.
Factors inhibiting
Prelacteal feeds
Incorrect positioning
Painful breast conditions.
Fig. 15.2b: Prolactin reflex (milk making reflex). Anterior pituitary

gets stimulated by vagus when the baby feeds at breast
releasing prolactin that synthesizes milk in the alveoli of breast
Oxytocin or Let Down Reflex (Fig. 15.3)

The Reflex
Suckling by baby
Stimulation of nerve ending in nipple and areola
Message is carried to posterior pituitary via vagus
Release of oxytocin
Oxytocin stimulates myoepithelial cells to contract and

cause ejection
92
Fig. 15.3: Oxytocin reflex is strongly controlled by emotions

positive thoughts help and negative thoughts suppress this
psychosomatic reflex
Factors promoting
Sound and sight of baby
Mothers confidence
Pleasant thought and sensation in mother
Factors inhibiting
Worry
Feeling of embarrassment
Lack of confidence
Stress
Two Intramammary Reflexes (Fig. 15.4)
Fig. 15.4: Intra-mammary reflexes. A substance that

accumulates when there is accumulation of milk in the
breast inhibits secretion of milk. Thus engorged breast
secretes less milk
Let the mother and baby stay together after delivery

Give the baby colostrum, its first immunization.
Nurse the baby on demand, day and night
Ensure that babys mouth completely encloses the
nipple and areola for effective emptying (Figs 15.6a
to f).
Both breasts should be used
Advise to completely empty one breast and then put
to other one
Burp to prevent regurgitation
Feeding Problems
Inverted/flat Nipple (Figs 15.7a to c)
Guidelines for Successful Breastfeeding

Care for the breasts and nipples during pregnancy
Encourage and Support Breastfeeding
(Figs 15.5a to f)
Put the baby to breast as soon as possible after
delivery
Suckling at breast is the most important stimulus for

initiating and maintaining lactation. Babies find difficulty
to suckle if the nipples are flat or inverted, truly inverted
or retracted nipples can cause serious difficulties but are
very rare. Most of these are just flat and could be pulled
out. This should be done ideally in the last trimester
of pregnancy by massaging and pulling for several
minutes each day. Truly retracted nipple are difficult to
manage, but can be helped to a great extent by using
nipple shield or syringe in method, which is commonly
practiced in our part. In this technique plunger is
withdrawn and the other end is cut. The withdrawn
Feeding of Newborns
Fig. 15 .5a: Mother helped in breastfeeding 4 hrs after LSCS.

Grandmothers helping hand comes as a big support to
young and inexperienced mothers in the sacred duty of
breastfeeding their babies.
Fig. 15.5d: Nurses help in breastfeeding
Fig 15.5b: In the hospital paramedicals assisting a group

of young mothers to breastfeed like a role of multiple
grandmothers
Fig. 15.5e: Nurses help a mother to breastfeed
Fig. 15.5c: Early initiation of breastfeeding. Assistance from

nurses, and ayas in the labor room itself for initiation of
breastfeeding
93
Fig. 15.5f: Traditional hammock- comfort both to mother and

baby and grandmother! Traditional hammock a cradle made
of cloth is comfortable and soothing to the baby and gives
some rest to the mother. when the baby is asleep
94
Fig. 15.6c: Good and comfortable position

Fig. 15.6a: Good and bad suckling position. Goodmouth
wide open, whole areola inside the mouth,chin touching
the breast, lower lip everted (Areolar-feeding). Badnipple
feeding
Fig. 15.6d: Note the correct position with wide-open mouth

with large amount of breast tissue in the mouth
Fig. 15.6b: Good and comfortable positon
Fig. 15.6e: Mother comfortably sitting and breastfeeding.

Immediately after delivery nearly after 1/2 hr there is a adrenal
surge making him or her alert and mother is relaxed after
disappearance of labor pains and ecstasy of having a baby
both conducive for successful lactation
Feeding of Newborns
Fig. 15.6f: Good and comfortable position
95
Fig. 15.7a: Bilateral flat nipple
Fig. 15.7b: Retracted nipple before and after syringing
Reference: Kesaree N. Treatment of inverted nipple

using disposable syringe. Indian Pediatr 1993 ; 30: 429430.
Engorgement of Breast (Figs 15.8a and b):
Fig. 15.7c: Retracted nipple by protractility test
plunger is inserted through the cut end. Negative

suction is then applied keeping the new open end over
the nipple and adjacent areola. Nipple will protrude into
the syringe then negative pressure is released after
sometime. This is repeated several times a day for
3-5 days. Usually by 3-7 days nipples will protrude.
Engorgement of breast is due to two elements: 1)

congestion and increased vascularity, which is
physiologic and 2) accumulation of milk which is due
to delayed and infrequent breastfeeding. The best
management of engorgement is prevention. This can
be done by allowing baby to suckle as often and soon
as possible after birth. Once engorgement develops,
mother can be helped by analgesia, applying warm
packs, and manually expressing milk.
Sore Nipple
Causes:
1. Incorrect attachment, nipple suckling
2. Frequent use of soap and water
3. Candida infection
96
Breast Abscess
It occurs as a complication of mastitis. Clinical features
are fever, pain and fluctuant mass in affected breast.
The milk remains clean unless the abscess ruptures into
the ductal system. Usually it drains to outside. Nursing
can be continued if the abscess opening is far from
areola. A true abscess always requires surgical drainage
along with antibiotics. Analgesics, rest, warm soaks and
frequent emptying are helpful. Baby should be carefully
watched for systemic illness when fed from the affected
breast.
Fig. 15.8a: Engorged breast with dilated veins and
inverted nipple
Fig. 15.8b: Breast engorgement with chaffing
4. Rarely, very vigorously suckling baby; barracuda

baby.
Management:
1. Examine the breast, nipple and nursing seen, and
advice good position.
2. Recommend manual expression before feeding
3. Suggest nursing on unaffected breast first, with
affected side exposed to air
4. Apply expressed breast milk on nipple and areola
and allow to dry.
5. Expose nipple to air between feeds.
6. Recommend appropriate ointment
7. Rarely, stop nursing on affected side and replace it
with manual expression or pumping for few days.
8. Use analgesics if required.
Relactation by Drop-drip Method

(Figs 15.9a and b)
This is useful in certain circumstances as listed below
Some babies do not suck for no apparent reason
Fig. 15.9a: Drop-drip method. In the event of decreased milk

secretion few drops of expressed milk dropped onto the
nipple to stimulate suckling reflex in the baby
Fig. 15.9b: The success of drip drop
Feeding of Newborns
97
Decreased flow of milk during first few days.

Babies with some defects like cleft palate/lip are facial
palsy, Pierre Robin sequence need to be taught by
this method.
Technique
Express breast milk
Drop milk over the breast in drops using a spoon
Position the baby to suckle nipple
Babies start suckling
Continue at every feed for 3-4 days.
Babies will learn to suckle at breast.
Reference: Kesaree N. Drop and drip method. Indian
Pediatr 1993; 30: 277-278.
Fig. 15.10b: One can create an exhibition of varities of bottles

used for infant feeding. They vary from penicillin vials to beer
bottles! Glass to gold!
Artificial Feeding (Figs 15.10a to e)

Artificial feeding has been described as worlds largest
experiment without controls. It is important for every
one to understand that unarguably human milk is for
human infants. The hazards of artificial feeding are listed
below.
Diarrheamarasmus syndrome
Aminoacidemia in preterms, acrodermatitis enteropathica due to zinc deficiency.
Deficiency of calcium, iron, vit.B6, essential fatty
acids and vit. E
SIDS, emotional problems, otitis media and
mechanical injury to gums.
Fig. 15.10a: Dangers of artificial feeding are too many

feeding bottle is considered a baby killer !!
Fig. 15.10c: Marasmic baby bottle fed. Bottle feeding and

marasmus are part of vicious cycle. The bottle invariably
contains dirty dilute formula
98
Fig. 15.11: Manual expression of breast milk proper technique

and hygenic principle are important in manual expression
of milk. Expressed milk may be required for spoon-feeding
gavage-feeding and in situation when mother is away from
home for work
Manual Expression of Milk (Fig. 15.11)
Fig. 15.10d: Compare breastfed baby (up) with bottle-fed

baby (down) at 4 months
Indications: sick mothers or babies, preterm babies,

working mothers
For breast conditions like engorgement, sore nipple
etc.
Technique: Wash hands and collecting cups, massage
the breast gentlylean over and shake the breast
place thumb behind areola and fingers oppositepress
towards the chest wallroll fingers towards nipple
moving them with skin. Repeat moving hand around
the breast to clear all the ductsrigid adherence may
be counter productive as every mother develops her
own pattern.
Paladay and Cup Spoon-feeding
(Figs 15.12a and b)
Fig. 15.10e: Breastfed healthy triplets
These alternative feeding techniques are relatively safe

when performed properly. They are used commonly
for babies with gestational age between 30-32 weeks
based on the observation that these babies have well
developed swallowing despite the absence of good
sucking or coordinated sucking and swallowing. The
procedure is as followsuse expressed breast milk
support the baby in upright position.
Wrap the baby so that his movements will not
interfere in feeding
Feeding of Newborns
99
Fig. 15.13a: NG tube insertion

Fig. 15.12a: Spoon-feeding. When sucking is poor and
swallowing is good, preferred method is spoon or paladayfeeding
Fig. 15.13b: NG tube insertion
Fig. 15.12b: Paladay-feeding
For cup and spoon-feeding, small quantities should

be poured directly over the tongue
For paladay-feeding pour through the angle of
mouth in small quantities at a time
Do not feed crying babies.
Gavage-feeding (Figs 15.13a to f)
Babies born before 30 weeks have poor suckle and
swallow and, hence need to be fed through a tube
Fig. 15.13c: NG tube insertion
passed into stomach through nose or mouth. The

feeding tube is measured from the external nares to
the tragus of the ear and from their to the ansiform
cartilage and marked. This length of tube should be
100
inserted through the nose. During insertion the head
is slightly raised and a wet tube is gently pushed into
the stomach. Correct position of tube is checked by
either auscultating bubbling of injected air over the
epigastrium or by aspirating the stomach contents. Milk
is taken in a 20 ml syringe attached to the end of tube
and allowed to trickle by gravity. Baby should be placed
in the right lateral position for 15-20 minutes to avoid
regurgitation.
TYPES OF BREAST MILK (Figs 15.14,

15.15a and b)
Fig. 15.13d: NG tube insertion
Colostrum
It is the milk secreted in the first week after delivery.
It is yellow, thick and contains more antibodies and
WBCs. Owing to its antiinfective property, giving
colostrum to the baby has been often called first
immunization of the baby. It has many important
functions apart from nutrition. Which are summarized
in the following Table.
Antibody richProtects against infection and allergy
WBCsAntiinfective (Fig. 15.14)
PurgativeClears meconium helps to prevent jaundice
Growth factorsHelp intestine to mature, prevents allergy,
intolerance.
Vit A richReduces severity of infection prevention eye
disease
Fig. 15.13e: Checking for proper placement of NG tube
Fig. 15.13f: Gavage-feeding. Babies who cannot suckle or

swallow need to be helped by gavage-feeding with
expressed breast milk. Very preterm and sick babies require
this kind of feeding
Fig. 15.14: Colostrum under microscope after Leishman

stain. Note plenty of lymphocytes, fat globules and macrophages.The lymphocyte counts of colostrum is 2000 cells/
cclCell mediated defence
Feeding of Newborns
101
Fig. 15.15b: Mature milk, foremilk and hind milk. Fore milk
has more lactose acts as an appetizer and quenches thirst!
Hind milk has high fat and gives satity at the end of each
feed-like a dessert after a meal!
Fig. 15.15a: Difference between preterm and full term milk.

Preterm milk has double the quantity of protein compared
to mature milk obviously to nurse preterm baby who has high
growth potential
Transitional milk: Milk secreted during the 2nd and

3rd weeks after delivery. Concentrations of fat and
sugar are high and that of proteins low.
Mature milk: This follows transitional milk. It is
thinner, watery and contains all the nutrients essential
for optimal growth of the baby.
Fore milk: It is secreted at the start of a feed. It is
watery, rich in proteins, sugar, vitamins, minerals and
water; satisfies babys thirst.
Hind milk: Follows foremilk; it is richer in fat and

satisfies babys hunger. This is the reason why one
breast should be completely emptied before putting to
the other.
Preterm milk: Secreted by a mother who has
delivered a preterm baby. It contains more protein
vitamins, minerals, sodium, iron, immunoglobulins and
calories. Thus, breast milk is not only species specific,
but also individual specific.
BIBLIOGRAPHY
1. Ruth A. Lawrence Breastfeeding 4th edition Mosby Year-cbook
Inc.
102
16
Neonatal Jaundice
Jaundice is the visible manifestation of elevated serum

concentration of bilirubin in skin and sclera. It is the
most common abnormal physical finding in neonatal
period and is an important sign of disease, or functional
disorder affecting hepatic, biliary or hematological
system. Jaundice in adults becomes visible when serum
bilirubin concentration is more than 2 mg/dl, whereas
in newborns it is visible when the level crosses 5 mg/
dl. Sixty percent of term babies and 80% of preterm
babies will have jaundice.
Krammers Method of Assessing the Severity

(Figs 16.2a and b)
Jaundice in newborn infants progresses in a cephalocaudal direction. Therefore the extent of yellowness of
skin is useful to assess the serum level of bilirubin.
Krammer divided body into different zones. Depending
on the involvement of these zones, serum bilirubin level
can be estimated approximately as shown below.
Method of Detecting Jaundice in Newborns

(Fig. 16.1)
Blanching the skin over bony prominences in good
sunlight does this. There should not be yellow clothes
or curtains in the background, which can lead to error
of over estimation. Once Phototherapy is started for
jaundice, this method becomes unreliable.
Fig. 16.1: Method of detecting jaundice
Fig. 16.2a: Krammers body zones for

assessing the severity of jaundice
Neonatal Jaundice
103
Causes
Increased bilirubin load

Defective uptake from plasma
Defective conjugation
Decreased excretion
Increased enterohepatic circulation
Pathological Jaundice
Features
Fig. 16.2b: Jaundiced-sole of a newborn

Face
Chest
Lower abdomen and thighs
Soles and palms
5-7 mg/dl
10 mg/dl
12 mg/dl
>15 mg/dl
Appears in the first 24 hours

Rise of total serum level by more than 5 mg/dl/day
Serum level >15 mg/dl
Direct serum bilirubin more than 2 mg/dl
Clinical jaundice persisting for more than 1 week in
a full term or 2 weeks in premature infant
Clay colored stool with yellow staining by urine.
Causes
MINOLTA TRANSCUTANEOUS
BILIRUBINOMETER
This instrument estimates serum bilirubin concentration
with the help of a photoprobe. The probe is pressed
against forehead or sternum. The light passes through
in built fiber optics and reflectometre and is analyzed
by computerized spectrophotometer to provide digital
display of total bilirubin immediately.
Classification (Tables 16.1 and 16.2)
Jaundice in newborns can be physiological and
pathologic. They are summarized below.
Physiologic Jaundice
Features
Appears after 24 hours
Maximum level by 4th or 5th day in term and 7th
day in preterms
Serum level <15 mg/dl
Disappears before 14 days
Disappears without treatment
Appears late and persists little longer in preterms.
Etiologically, pathological jaundice may be of

unconjugated type or conjugated type. Neonatal
jaundice can also be classified depending on the age
of onset which is clinically more useful. This classification
is also given in Table 16.1.
Table 16.1: Causes of jaundice on the basis of
age of onset
<24 hrs :
1)
2)
3)
4)
24-72 hrs : 1)
2)
3)
4)
>72 hrs :
1)
2)
3)
4)
5)
Hemolytic disease
Intrauterine infections
Crigler-Najjar syndrome
LuceyDriscoll syndrome
Physiological
Sepsis
Polycythemia
Concealed hemorrhage
Septicemia
Neonatal hepatitis syndrome
Breast milk jaundice
Metabolic diseases
Bowel obstructions
104
Table 16.2: Etiological classification of jaundice in newborns
Conjugated:
I. Obstruction to biliary flow
Ex: Biliary atresias
Choledochal cyst etc.
II. Hepatic cell injury
Infections: bacterial, viral, parasitic
Idiopathic neonatal hepatitis syndrome
Toxic
Bacterial sepsis
Metabolic
Galactosemia
Fructosemia
Tyrosinemia
Alpha -1-antitrypsin deficiency
Infantile Gauchers disease
Wolman disease
Glycogenosis IV
Neimann-Pick disease
Zellweger syndrome
Byler disease
Immunologic
Lupus erythematosus
Trisomy 17-18
Trisomy 21
Unconjugated type:
Excessive production of bilirubin
Hemolytic diseases
Extravasation of blood
Polycythema
Swallowed maternal blood
Impaired conjugation or excretion
Hypothyroidism
Hypopituitarism
Crigler-Najjar syndrome I and II
Gilberts disease
Lucey-Driscoll syndrome
Enhanced entero-hepatic circulation
Various types of gut obstructions
I. Chronic bilirubin overload
Erythroblastosis fetalis
Erythrocyte enzyme defects
Congenital erythropoietic porphyria
Spherocytosis elliptocytosis
Pyknocytosis
Approach to a jaundiced neonate: Following maternal and perinatal history is helpful in the evaluation (Tables
16.3 to 16.5).
Table 16.3: Maternal and perinatal history in evaluation of jaundice
Previous sibling with neonatal jaundice
Family history of jaundice, splenectomy,
Mothers blood group information
Maternal illness with fever and rash during pregnancy
Probably history of malaria
Labor and delivery (traumatic delivery)
Delayed cord clamping
PROM, oxytocin, delayed feeding
Delayed passage of meconium and delayed breastfeeding
Maternal drugs
Liver diseases in family
Rh and ABO incompatibility

G6PD, spherocytosis
HDN
UTI
Malaria
Asphyxia, trauma
Polycythemia
Infection
Increased enterohepatic circulation
Sulfa drugs, vitamin K, nitrofurantoin, antimalarials
Galactosemia, alpha-1-antitrypsin deficiency
Table 16.4: Physical examination in evaluation of jaundice

SFD- polycythemia
Microcephalus, hydrocephalus
Pallor
Bruise
Petechiae
Omphalitis
Chorioretinitis
Urine staining clothes yellow
IUI (intrauterine infections)

IUI
Hemolytic anemia, extravasation of blood
Cephalhematoma
IUI, sepsis, HDN
Sepsis
IUI
Cholestasis
Neonatal Jaundice
105
Flow chart 16.1: Diagnostic approach to a neonate with jaundice
Treatment of Hyperbilirubinemia
Kernicterus (Fig. 16.3)
Excessive serum concentration of conjugated bilirubin

results in the deposition of this substance in the CNS
and causes neuronal injury. Two terms are used to
describe the effect of bilirubin toxicity affecting nervous
system: kernicterus and bilirubin encephalopathy, which
represent pathological and clinical observation
Hydration
Phototherapy
Exchange transfusion
Drugs to increase conjugation
Inhibiting reabsorption in the gut
Inhibiting bilirubin production.
106
Table 16.5: Investigation for specific cause of jaundice in infants
Toxoplasma, rubella, parvo-B19, CMV

IgM specific antibody
Herpes simplex, VZV, HHV-6
Serology/viral culture of vesicles/EM
HBV
HBs Ag, Anti HBc (IgM),HBV DNA
HCV
HCV RNA by RT-PCR
HIV
Anti HIV, Ig, CD4, PCR
Syphilis
STS, VDRL, FTA-ABS, long bone film
Enterovirus
Serology, CSF for viral culture
Hypopituitarism
Low cortisol, TSH, T4
Hypothyroidism
High TSH, low T3T4
EHBA
Delayed excretion isotope scan, liver biopsy
Inspissate bile
Coombs, haemolysis, dilated bile duct
Sclerosing cholangitis, hair like bile duct, choledochal cyst, carolicyst Ultrasound, cholangiogram
Alagille
Echo, posterior embryotoxin, butterfly vertebrae
Non-syndromic duct paucity
Bile duct paucity on history
Serum AAT, P1 type
A1 ATD
Cystic fibrosis
Sweat chloride, IRT, DNA mutation
Galactosemia
Gal-1-6-phosphate uridyl transferase
Tyrosinemia
Serum tyrosin, methionine, AFP, urine succinale acetone
Hereditary fructosemia
Liver biopsy, EM, ductal biopsy
Wolman
Adrenal calcification
Primary disorders of bile acid synthesis
Urinary bile acids intermediates by FABMS
Byler disease
GGT, genetic testing
Zellweger syndrome
Very long chain fatty acid study
Neonatal lupus erythematous
Anti Ro-antibody (in mother and child)
Neonatal hepatitis with autoimmune hemolytic anemia
Coombs test, giant cell hepatitis
Adapted from Roberts EV, Kelly (Ed). Diseases of the Liver and Biliary System in Children.
had variably raised unconjugated serum bilirubin levels.

In full term infants the basal ganglia are preferentially
stained whereas in preterms the cranial nerve nuclei
and thalamus are affected. Bilirubin encephalopathy
present in two forms: acute and chronic which are
summarized in Table 16.6.
Phototherapy (Fig. 16.4a)
Fig. 16.3: Kernicterus. Note arching of body due

to bilirubin encephalopathy
respectively. Kernicterus refers to the yellow staining of

parts of the brain found at postmortem in infants who
It is the most commonly used method of treatment for

unconjugated hyperbilirubinemia. It has been in use for
the last 45 years and has reduced the incidence of
bilirubin toxicity and need for exchange transfusion.
It involves exposure of the skin of the jaundiced
baby to blue light of wavelength 425-475 mm. On
exposure, bilirubin bound to the skin gets converted
into photoproducts, which are water soluble, nontoxic
and get excreted in urine and stool. Three types of
mechanisms are involved in this conversion viz.
configurational isomerization, structural isomerization,
and photoxidation.
Neonatal Jaundice
Table 16.6: Kernicterus
Acute form
Phase I
(First 1-2 days)
Phase II
(Middle of I week)
Phase III
Chronic form
Ist year
After 1 year
Decreased activity
Lethargy
Poor suckling
Hypotonia
Change in infants cry
Hypertonia
Fever
High pitched cry
Opisthotonus
Seizures
Spasticity is decreased
Hypotonia
Active DTR
Obligatory TNR
Delayed motor skills
Movement disorder
Fixed upward gaze
High frequency hearing loss
Mental retardation
Give frequent extra-feeding every 2 hrs, turn baby

after each feed
Monitor temperature, weight and serum bilirubin
concentration.
Side Effects
Increased insensible water loss

Loose stool
Skin rashes
Bronze baby syndrome
Hyperthermia
Exchange Transfusion (Figs 16.4b to f)
DTR-deep tendon reflexes,TNR-tonic neck reflex.
Indications
1. Hydrops
2. History of previous sibling requiring exchange
transfusion because of Rh-isoimmunization in a
baby for with pallor hepatosplenomegaly and
positive direct Coombs test.
3. Cord Hb <11 gm/dl
4. Cord total serum bilirubin(TSB) >5 mg/dl
5. Rise of TSB >1 mg/dl/hr despite phototherapy
6. Rate of rise of TSB >0.5 mg/dl/hr despite phototherapy, if Hb is between 11-13 gm/dl
7. Any TSB >12 mg/dl in first 24 hrs and any TSB
>20 gm/dl in neonatal periods.
Fig. 16.4a: Phototherapy. Note baby under high intensity

phototherapy
Technique
107
Perform handwashing
Place the baby naked
Fix eye shields
Keep baby at 45 cm from the source
Start phototherapy
Fig. 16.4b: Exchange transfusion.

Note Instruments needed
108
Fig. 16.4c: Exchange transfusion.

Note inserting the catheter
Fig. 16.4f: Exchange transfusion technique
Choice of Blood for Exchange Transfusion

1. In ABO incompatibility: Use O-positive blood; ideal
is to have O-positive cells suspended in AB plasma.
2. In Rh-immunization:In an emergency, use
O-negative blood. Ideal is O-negative cells
suspended in AB-plasma or babys blood group but
Rh negative.
3. Other situations: Babys blood group.
Fig. 16.4d: Exchange transfusion. Note exploring for
umbilical vein in a shriveled cord
Fig. 16.4e: Exchange transfusion underway
Technique
1. Scrub and put on a sterile gown and gloves.
2. Place the infant in the supine position and evacuate
the stomach.
3. Perform the umbilical vein catheterization. Prepare
the area. Put sterile drapes on, leaving the umbilical
area exposed. Cut off the excess umbilical cord with
a scalpel, leaving a stump of about 0.5-1cm. Identify
the umbilical vein. The umbilical vein is thin walled,
larger than the 2 arteries and is close to the
periphery of the stump. Take the curved hemostat
and grasp the end of the umbilicus to hold it upright
and steady. Use the forceps to open and dilate the
umbilical vein. Once the vein is sufficiently dilated,
insert the catheter (Figs 16.4c and d).
Neonatal Jaundice
109
4. Attach the bag of blood to the tubing and stopcocks.

5. Establish the volume of each aliquot as given in Table
16.7.
Table 16.7: Aliquots usually used in neonatal exchange
transfusion
Infant weight
Aliquot (ml)
More than 3 kg
2-3 kg
1-2 kg
850 g-1kg
Less than 850 g
20
15
10
5
1-3
Fig. 16.5a: Anti-D immunoglobulin
6. The procedure should not be too fast or slow.

7. The blood should be shaken gently after every 100
ml of exchange because the RBCs will settle rapidly.
8. The total time taken for a double volume exchange
should be one hour.
Rh-incompatibility (Figs 16.5a and b)
When an Rh-negative mother carries Rh-positive fetus,
her immune system gets exposed to fetal Rh-positive
cells resulting in production of anti-D antibodies which
can cross placenta and cause immune-mediated
destruction of fetal RBCs. However during first
exposure the amount of antibodies may not be
sufficient to cause severe problems in the fetus. But the
subsequent pregnancies may result in severe
consequences, which can be graded as mild, moderate
and severe as shown in the Table 16.8.
Table 16.8
Mild: Indirect hyperbilirubinemia not exceeding 16-20 mg/dl
No anemia, no treatment.
Moderate: Moderate anemia severe jaundice with risk of
kernicterus unless treated
No hydrops
Severe: Fetal hydrops in utero
Modified and adapted from Nathan and Oskis Hematology
of Infancy and Childhood, 5th edn.
Following the delivery of a baby to an Rh-negative

mother cord blood should be collected for following
investigations.
Blood grouping and typing
Direct Coombs test
Fig. 16.5b: Collection of cord blood
Maternal antibodies
Hemoglobin level
Serum bilirubin estimation
Hydrops Fetalis (Figs 16.6a to c)
This is the most severe form of Rh-incompatibility.
As a result of destruction of red cells extramedullary
erythropoiesis takes place resulting in hepatosplenomegaly. But worsening of anemia causes hypoxic
damage to liver leading to hypoproteinemia, which
causes severe anasarca and other features.
The typical blown-up appearance of hydrops fetalis
is unmistakable in the postnatal period. The important
features in postnatal period include subcutaneous
110
Fig. 16.6a: Hydrops fetalis. Note typical

blown up appearance
Fig. 16.6b: Hydrops fetalis. Note generalized anasarca
edema, ascites, respiratory distress, pallor, excessive

weight, cardiac arrhythmias, hepatosplenomegaly and
placental edema.
It is important that hydrops fetus is diagnosed
antenatally for proper management.
Fig. 16.6c: Hydrops fetalis. Note blown up appearance
Many of the maternal conditions are associated with

increased risk of hydrops fetalis, that include abnormal
uterine enlargement, polyhydramnios, isoimmune
hemolytic disease, positive antibodies, history of
diabetes, pregnancy induced hypertension (PIH),
diminished fetal activity, fetal cardiac arrhythmia and
anemia of unknown origin.
Ultrasound examination remains the best modality
for detection of hydrops fetalis. The features include
pericardial effusion, placentomegaly, dilated umbilical
vein, scalp and body edema, pleural effusion, ascites
and polyhydramnios.
Prevention (Fig.16.5)
Rh-isoimmunization can be prevented by giving Rhantiimmunoglobulin (IgG) to Rh-negative mother
following childbirth or abortion.
Neonatal Jaundice
Dosage
At 28 weeks: 300 mg of Rh-immunoglobulin and
repeat same dose after delivery.
After C.V.S.: the dosage is 50 mg
In large placental hemorrhage and mismatched
transfusion the dosage is more than 300 mg.
Causes of Nonimmune Hydrops
Causes prolonged unconjugated jaundice
Crigler-Najjar syndrome
Breast milk jaundice
Hypothyroidism
Pylroric stenosis
Ongoing hemolysis
Malaria
111
Table 16.9: Features of chronic cholestasis

Bilirubin excretionjaundice
Bile acid excretionpruritis
Fat absorptionsteotorrhoea
Absorption of fatty acidspeeling of skin rashes
Absorption of vit Axerophthalmia
Absorption of vit Eataxia, hemolysis, ophthalmoplegia
and neuropathy
Absorption of vit Drickets, osteopenia
Absorption of vit Kbruising, epistasis, coagulopathy
hypercholesterolemiaxanthoma
Protein catabolismPEM
Neonatal Hepatitis Syndrome (Figs 16.8a and b)

Nonspecific hepatic inflammation due to several
etiologic agents including intrauterine infections, inborn
errors of metabolism, and endocrine disorders are
Conjugated Jaundice (Fig. 16.7)

Features
Conjugated hyperbilirubinemia is characterized clinically
by jaundice with bile in the urine. Jaundice may appear
late in neonatal period or may fail to subside after 1
wk unlike physiological jaundice. The stools may be pale
brown or even chalky white in color. The direct bilirubin
generally exceeds 15% of the total.
Fig. 16.8a: Neonatal hepatitis syndrome. Note marasmic

child lemon yellow hue of jaundice. Compare with Biliary
atresia
Fig. 16.7: Conjugated hyperbilirubinemia. Note pale stool,

high colored urine suggestive of biliary artesia
Etiology
Listed earlier in the Table 16.2.
All conditions causing conjugated hyperbilirubinemia
are pathologic and have a component of cholestasis.
The features of chronic cholestasis are given in the Table
16.9.
Fig. 16.8b: Neonatal hepatitis syndrome. Note marasmic

child lemon yellow hue of jaundice. Compare with biliary
atresia
112
Table 16.10: Difference between neonatal hepatitis syndrome and extrahepatic biliary atresia (Figs 16.9a and b)
Neonatal hepatitis syndrome
Extrahepatic biliary atresia
Familial incidence is approximately 20%

More commonly occurs in premature or small for gestational
age infants
Stools are pigmented and persistently pigmented
Associated anomalies are nil
Familial incidence is unlikely

Can occur in any age group
Stools are persistently acholic
Associated anomalies like polysplenia syndrome with
abdominal heterotaxias, malrotation, levocardia,
intraabdominal vascular anomalies
Palpation of liver may find an abnormal size and consistency
Palpation of liver may find hepatomegaly but not

abnormal consistency
Hepatobiliary scintigraphy: Uptake of dye is sluggish, but
excretion into the biliary tract and intestine eventually occurs
Hepatobiliary scintigraphy: Hepatic function is intact and

uptake of the agent is unimpaired but excretion into the
intestine is absent
Liver biopsy: Bile ductal proliferation with presence of bile
plugs, portal or perilobular edema and fibrosis with the basic
hepatolobular architecture intact
Liver biopsy: Distortion of lobular architecture with marked

infiltration with inflammatory cells and total hepatocellular
necrosis. The bile ductules show little alteration. Giant cell
formation is found in either conditions
Fig. 16.9b: Biliary atresia. Note well grown baby with

deep yellow jaundice
Clinical Features
Fig. 16.9a: Biliary atresia. Note well grown baby with

deep yellow jaundice
responsible for this condition. It has to be differentiated

from biliary atresia.The differentiating features are listed
in Table 16.10.
Deep jaundice
Dark urine
Pale stools
Growth retardation
Failure to thrive poor-feeding
Dysmorphic features (trisomy 21, 18, Alagille,
Zellweger, IUI)
Hepatosplenomegaly
Ascites
Cardiac murmur, neurological abnormality
Bleeding (vit K deficiency, platelet deficiency)
Cholestatic features
Neonatal Jaundice
113
Laboratory Findings
Conjugated hyperbilirubinemia
ALT, AST
Alkaline phosphatase later
GGT may
Hypoglycemia
Serum albumin usually normal
Prothrombin time increased
Ultrasoundgallbladder present
Isotope scans
Liver biopsy
Giant cells
Paucity of bile ducts
Bile plugs
Mononuclear cell infiltration
Choledochal Cyst (Fig. 16.10)

Results from cystic dilatation of common bile duct (due
to congenital defect of the duct wall or a mucosal valve,
or abnormal course of the duct through the duodenal
wall). This expanding cyst blocks the entry of bile into
Fig. 16.10: Types choledochal cyst. These cyst can

cause obstructive jaundice
duodenum and causes obstructive jaundice. In older

children, the clinical triad of the cyst is jaundice, pain
abdomen and abdominal mass. In neonates jaundice
with acholic stool, high coloured urine is commonly
seen. Mass may or may not be palpable. Diagnosis can
be established by cholecystography.
114
17
Birth Injuries
Birth injuries are those sustained during the birth

process, which includes labor and delivery. Such injuries
may be avoidable or unavoidable. Majority of these are
mild and have a favorable outcome. Severe injuries can
cause permanent handicap or even death. The
mortality from birth injury in developed countries is
estimated to be 3.7 per 100,000 live births. Birth
injuries are caused by mechanical forces during passage
of the baby through the birth canal either naturally or
by traction or instrumental intervention. Various types
of injuries commonly encountered are listed below:
Skin and soft tissue injury
Erythema
Abrasions
Petechiae
Ecchymosis
Subcutaneous fat necrosis
Lacerations.
Injuries to the head
Scalp lesions due to forceps or electrodes or vacuum
extraction
Moulding
Caput succedaneum
Cephal hematoma
Subgaleal hemorrhage
Skull fractures
Intracranial hemorrhages
Facial injuries
Nasal injuries
Ocular injuries
Ear injuries.
Bony and musculoskeletal injuries

Fracture of clavicle
Fracture of long bonesfemur humerus
Dislocations of joints
Sternomastoid tumor.
Peripheral nerve injuries
Facial nerve
Brachial plexus
Erbs palsy
Klumpkes palsy,
Diaphragmatic paralysis
Internal organ injuries
Intraabdominal organ injuries
Scrotal hematoma.
Skin and Superficial Injuries (Figs 17.1a to d)
The common injuries are abrasions, erythema, blisters,
petechiae, bruising, ecchymosis and are most often
overlooked. Most of these heal without consequences.These superficial injuries are commonly seen
in babies delivered by forceps application. In presence
of extensive petechiae, watch for other sites of bleed
to rule out bleeding disorder. Hemoglobin and serum
bilirubin should be carefully monitored in presence of
large ecchymosis.
Subcutaneous Fat Necrosis
These are well circumscribed indurated lesions that
follow difficult delivery. The features are summarized
below.
Birth Injuries
115
Fig. 17.1a: Face presentation a liability for superficial injuries

Fig. 17.1d: Facial injury following forceps delivery
Appear as irregular indurated nodules

Non-tender
No local rise of temperature
Overlying skin may have altered colour
Usually appear between 6 and 10 days
Require only observation
May take several months to regress completely
Symptomatic hypercalcemia at 3-4 weeks of age is
a known complication.
Scalp Injuries (Figs 17.2a to i)

Fig. 17.1b: Blisters and erythema following face
presentation
Layers of scalp: Scalp has 5 layers as shown in the

Figure 17.2. Collection of blood or fluid in between
these layers produces characteristic physical changes.
These are described below.
Caput Succedaneum (Figs 17.2b and e)
It is probably the most commonly observed lesion that
is characterized by vaguely demarcated area of edema
over that portion of the scalp that was the presenting
part during a vertex delivery. Here serum or blood
accumulates above the layer of periosteum. The
swelling has many characteristic features. It is present
at birth pits on pressure, crosses suture lines and
resolves in few days.
Cephal Hematoma (Figs 17.2c and d)
Fig. 17.1c: Facial bruise after face presentation
Cephal hematoma is a subperiosteal bleed, hence

always limited to the surface of one cranial bone often
116
Fig. 17.2a: Layers of scalp
Fig. 17.2e: Caput succedaneum
Fig. 17.2b: Caput succedaneum
Fig. 17.2c: Cephal hematoma

Fig. 17.2f: Subgaleal hemorrhage
Fig. 17.2d: Cephal hematoma
Fig. 17.2g: Subgaleal hemorrhage
Birth Injuries
117
rubinemia may sometimes be seen and may require

phototherapy. Some cephal hematomas calcify few
months later producing bony bumps over scalp. The
differential diagnoses include caput succedaneum,
cranial meningocele and cranium bifidum. Differences
between cephal hematoma and caput succedaneum are
summarized in the Table 17.1.
Subgaleal Hemorrhage (Figs 17.2f and 17.2g)
Fig. 17.2h: Chignon
Here the blood collects in the soft tissue space between

galea aponeurotica and the periosteum that extends
from the orbital ridges to the occiput and laterally to
the ears. Vacuum extraction is a predisposing factor. The
soft tissue can accumulate as much as 260 ml of blood.
Clinical features are pallor, diffuse swelling of the scalp
progressively involving whole calvarium and features of
cerebral irritation. The blood loss may result in
hypovolemia and shock. Treatment includes restoration
of blood volume and, in deteriorating cases surgical
cauterization of bleeding points. The mortality is 25%.
Vacuum Extraction Injuries
(Figs 17.2h and 17.2i)
Fig. 17.2i: Vacuum extraction
in parietal region, rarely over occipital area. It results

due to rupture blood vessels that traverse from skull
to periosteum. Because subperiosteal bleeding is slow,
the swelling may not be apparent for several hours or
days. An underlying skull fracture may be associated
in some cases. Most cephal hematomas resolve by
themselves in 2 wks to 3 months. Marked hyperbili-
Various types of birth trauma have been associated with

vacuum extraction. These include, superficial scalp
injuries, cephal hematoma, subgaleal hemorrhage,
intracranial hemorrhage, subconjunctival hemorrhage,
clavicular fracture, nerve injuries, and retinal
hemorrhage Chignon is the term used to refer to
artificial caput that is produced beneath the vacuum
cup.
SKULL FRACTURES
Fractures of the skull during labor are relatively
uncommon as the bones are less mineralized and, the
membranous sutures that separate individual bones
Table 17.1: Differences between caput and cephal hematoma

Caput succedaneum
Cephal hematoma
Seen at birth
Crosses sutures and midline
Discoloration of overlying skin
Resolves early
Not associated with fracture
Appears after several hours or days

Sharp periosteal limitations to one bone
No discoloration
Resolves in 2 wks
May be associated with fracture
118
permit alteration in the contour of the head. But

fractures do occur in prolonged and difficult labor and
forceps deliveries. Three types of fractures have been
described viz. linear, depressed and occipital
osteodiastosis. Of these, linear fractures are commonly
seen and have good prognosis.
Intracranial Hemorrhage (Figs 17.3a to c)
This can occur due to birth trauma or spontaneously.
the details are summarized in the Table 17.2.
Fig. 17.3c: Subdural hemorrhage
Other Injuries in Head (Fig. 17.4)

Eyes, facial skin, ears are susceptible for injuries during
instrumental deliveries as they are commonly in the
presenting part. Sometimes during cesarean section
they may be inadvertently damaged while putting
incisions. One such example of ear cut is shown in the
picture. Most of these injuries heal well.
Sternomastoid Tumor (Fig. 17.5)
Fig. 17.3a: Subarachnoid hemorrhage
The exact origin of this tumor is controversial. One of

the proposed mechanisms is birth trauma, during difficult
labor involving over stretching of the muscle. This results
in formation hematoma into the muscle, which is replaced
by scarring resulting in shortening of the muscle and
torticollis. Other features are summarized below.
Mass in the midportion of the muscle
Usually noted 10-14 days after birth
Hard, immobile, well circumscribed, measures
1-2 cm
No signs of inflammations
Most resolve by 5-8 months
Conservative therapy of stretching to over correct
position for 6 months
Surgery if persists beyond 1 year
BONE FRACTURES
Fig. 17.3b: Intraventricular bleed
Any bone in the body may be fractured during birth

trauma. But clavicle, humerus and femur are commonly
Birth Injuries
119
Table 17.2: Types of intracranial hemorrhages in newborn and their features

Types of hemorrhage
Predisposing factors
Manifestations
1. Subdural
Acute syndrome: nuchal rigidity, retrocollis,

opisthotonus, signs of midbrain, upper pons
compression, stupor, deviation of eyes,
bradycardia, fatal within min to hours.
Subacute syndrome: onset days after birth
irritability, stupor, irregular respiration, full AF
followed by brainstem compression.
Focal cerebral syndrome: focal seizures, focal
hemiparesis, deviation of eyes to side of lesion
a. Manifestations are variable, some babies may
be asymptomatic
b. Others have a catastrophic onset with severe
pallor, irregular respiration and death, some
babies present with seizures on second day,
baby in interictal period appears normal
c. Apneic spells in preterms
Catastrophic onset: evolution within min-hrs,
stupor, coma, apnea, tonic seizures, decerebrate
postures, fixed dilated pupils, flaccid quadriparesis,
associated bulging AF following increased ICT,
bradycardia, hypotension, hypothermia
Salutatory syndrome: stuttering evolution, hrsdays, altered sensorium, decreased spontaneous
activity, hypotonia, abnormal eye-movements.
Apnea, bradycardia, falling hematocrit, catastrophic
deterioration-diagnosis usually postmortem
Difficult labor especially breech,

brow, face presentations
Full-term infants
CPD
Rigid birth canal, primi
Precipitate deliveries
2. Subarachnoid
a. More in preterms following hypoxic event

b. In full terms following trauma
3. Periventricular
and intraventricular
More in preterms
a. <32 wks GA
b. <1500 g birth weight
c. With H/O birth asphyxia
4. Intracerebral
Prematurity
<32 wks. GA
<1500 g, birth weight, birth trauma
Fig. 17.4: Sutured ear accidentally-cut during

cesarean section
Fig. 17.5: Sternomastoid tumor
120
involved. Multiple fractures are encountered in

conditions with increased fragility of bones like
osteogenesis inperfecta, osteopetrosis congenita,
idiopathic hyperphosphatasia etc. Important bone
fractures commonly seen in birth trauma are
summarized below.
should make one suspect a fracture. Careful examination may reveal swelling and pain on passive
movement. They are treated by splinting, the limb.
Closed reduction and casting is needed only when bony
fragments are displaced. Radial nerve injury may occur
in fracture of humerus. Sometimes multiple fractures
may be feature of Battered baby syndrome.
Fracture of Clavicle (Fig. 17.6a)

Long Bone Fractures (Fig. 17.6b)
Brachial Plexus Injuries (Figs 17.7a to c)
Usually humerus and femur are common long bones

that are fractured. Loss of spontaneous limb movement
Incidence is estimated to be 4 per 1000 live births.

Brachial plexus paralysis refers to weakness or total
paralysis of muscles innervated by nerve roots that
Fig. 17.6a: Fracture of clavicle (right)
Fig. 17.7a: Erbs palsy. Note the peculiar tip hand

position of the arm
Fig. 17.6b: Fracture of femur
Fig. 17.7b: Note unilateral Moros reflex in the same baby
Birth Injuries
121
sometimes associated with injuries to phrenic nerve (C3,

C4) causing unilateral diaphragmatic palsy.
Treatment: Immobilize by fixing upper arm to the
thorax followed by gentle physiotherapy to prevent
contracture.
Prognosis: Carries good prognosis.
Klumpkes Palsy
It is an extremely rare injury in which the roots C8, T1
are affected. The injury results in weakness or paralysis
of the intrinsic muscles of hand and may cause
Horners syndrome.
Facial Nerve Palsy (Figs 17.8a and b)
Site of injury: stylomastoid foramen or ramus of
mandible, rarely in temporal bone fracture on the
contralateral side and three fourth occur on the left side
Fig. 17.7c: Erbs palsy (diaphragmatic palsy) (Left side)
supply the brachial plexus, i.e. C5-C 8 and T1. The

predisposing factors are listed in the table. The clinical
picture varies according to the nerve roots involved.
Differential diagnosis includes fracture clavicle or
humerus which can even coexist.
Clinical features:
Paralysis apparent on 1st or 2nd day
When complete, entire side of face affected
Obliteration of nasolabial fold
Drooping of corner of mouth
Risk Factors for Brachial Plexus Injury

-Shoulder dystocia
-Macrosomia
-Instrumental vaginal delivery
-Gestational diabetes
-History of affected previous infant
Erbs Palsy (Figs 17.7a to c)
This accounts for 90% of brachial plexus injuries.
Roots involved: C5,C6
Clinical features: Peculiar tip hand position; arm is
adducted and internally rotated, forearm is extended
and supinated wrist is flexed. Moros, brachial and radial
reflexes are absent but grasp reflex is intact. It may be
Fig. 17.8a: Right facial nerve palsy
122
Fig. 17.8b: Right facial nerve palsy
Drawing of angle of mouth to other side on crying.

Facial palsy secondary to birth trauma(peripheral)
can be differentiated from that of central cause, by
noting involvement of both upper and lower parts
of one half of face and absence of other features
of CNS involvement and by presence of hemotympanium, periaural echymosis and swelling.
Fig. 17.9: Intra-abdominal injury with scrotal hematoma
Treatment:
Protect the eye
Observe, as 90% will resolve spontaneously
Surgical intervention after 1 year
Differentiate from CNS causes, nuclear agenesis, and
congenital hypoplasia of depressor muscle of angle
of mouth.
Internal Organ Injury (17.9)
Rupture of the liver, suprarenal gland, spleen and
kidney occurs in that order of frequency. Important
features are given below.
Scrotal Injury (Fig. 17.10)
Soft tissue injury involving scrotum occurs after breech
deliveries and in large babies. Edema, ecchymosis and
Fig. 17.10: Scrotal injury
hematomas can occur. The degree of swelling and

discoloration can be severe due to laxity of the tissues
and causes considerable concern. However, spontaneous resolution of edema occurs in 1 or 2 days and
discoloration disappears in 4 or 5 days. No treatment
is needed. It has to be differentiated from scrotal
Birth Injuries
hematoma secondary to intraperitoneal hemorrhage
due to rupture of solid organs, which requires urgent
attention.
Breech Deformation (Fig. 17.11)
Approximately 3% of babies are born by breech
presentation. Babies born by breech are at increased
risk of developing asphyxia, traumatic birth injuries, soft
tissue injuries, ecchymosis and subcutaneous fat
necrosis. A common deformation seen in newborn of
complete breech includes lower limbs kept flexed at hip
and extended at knee joint that usually resolves after
a few days. Fractures of clavicle and femur are not
uncommon. Brachial palsy, sternomastoid tumors are
common due to difficulties in delivering the aftercoming
head. Major visceral damage like spleen, liver, kidney
rupture can occur during breech extraction and so also
traumatic intracranial hemorrhages. Many fetal and
maternal factors predispose to breech presentation.
Large fetal head, congenital hip dislocation (CHD),
neuromuscular dysfunction (Down syndrome, PraderWilli, Zellweger, Trisomy 13-18. Smith Lemli-Opitz,
Fetal alcohol syndrome, Werdnig-Hoffmann syndrome,
123
myotonic dystrophy are some of the important

fetal factors, whereas uterine abnormalities, abnormal
placental implantation, oligohydramnios, polyhydramnios, twin pregnancy and low birth weight (LBW) are
maternal factors that predispose to breech delivery.
Child Maltreatment or Battered Baby
Syndrome (Figs 17.12a to c)
This group of injuries closely mimics birth trauma and
needs to be recognized in order to prevent further
adverse consequences. Child maltreatment includes a
Fig. 17.12a: Battered baby syndrome. Note facial

abrasions
Fig. 17.11: Breech deformity
Fig. 17.12b: Battered baby syndrome. Note strangulation

marks and facial abrasion
124
wide spectrum of acts of commission or omission by
the care gives that results in morbidity or death. The
acts can be physical or psychological. The former
category includes acts of omission like not providing
adequate food, clothing, safety, medical care and
schooling and acts of commission like burns, bruises,
and fractures. The psychological maltreatment
encompasses lack of support, love and recognition
insulting, comparing and terrorizing. These abuses have
short and long-term psychological consequences.
BIBLIOGRAPHY
Fig. 17.12c: Battered baby
1. Harpold TL et al. Neonatal neurological trauma. Neurosurg

Clin N Am. 1998; 9: 141-154.
2. Pollock RN.Clinical Obstetrics and Gynecology 2000;
43:236-246.
Neonatal Sepsis
18
Neonatal Sepsis
Neonatal sepsis is a clinical syndrome of multiplying

bacteria in the blood with systemic signs and symptoms
of inflammation. Meanings of other related terms are
Table 18.1: Meanings of common terms used in
neonatal sepsis
Infection: The invasion of normally sterile tissues by microorganism or their products.
Bacteremia: The presence of bacteria in the blood.
Sepsis: The systemic inflammatory response to infection.
Severe sepsis : A systemic inflammatory response that is
associated with organ dysfunction.
Septic shock: A systemic inflammatory response associated
with cardiovascular collapse refractory to fluid replacement.
Multiple organ dysfunction syndrome: A clinical syndrome
characterized by the development of acute, potentially
reversible dysfunction of organs or organ systems not directly
involved in the primary disease process.
Adapted from Marshall JC, Taneja R. in Deitch EA, Vincent
JL, Windsor A (eds). Sepsis and Multiple Organ Dysfunction.
WB Saunders 2002.
Table 18.3: Clinical features of neonatal sepsis
Escherichia coli
Staphylococcus aureus
Klebsiella pneumoniae
Group B streptococci
Table 18.2: Risk factors for neonatal sepsis
Neonatal
Maternal
Low birth weight

Male gender
Invasive procedures
Galactosemia
Asphyxia
Hypoxia, acidosis
Prolonged rupture of membranes

Premature rupture of membrane
Peripartum fever
Foul smelling liquor
Procedures on fetus
Maternal UTI
Hyperthermia
Hypothermia
Lethargy
Irritability
Apnea
Cyanosis
Jaundice
Hepatomegaly
Anorexia
Vomiting
Abdominal distention (Fig. 18.1)
Diarrhea
From Klein Jo, Mercy SM. Bacterial sepsis and meningitis. In

Remington JS, Klein Jo (eds). Infectious Diseases of the Fetus
and Newborn Infant, edn 4. Philadelphia: WB Saunders,
1999.
Laboratory Studies
Table 18.4: Laboratory evidence
of sepsis
Common Etiologic Agents
125
Direct evidence
Indirect evidence
Neutropenia (Fig. 18.4)

CRP(Fig. 18.5)
Micro ESR
Leukopenia
Ratio of immature to mature
neutrophils.
Nucleated RBC
(Fig. 18.6)
Blood culture (Fig. 18.2)

CSF culture
Urine culture (Fig. 18.3)
Other fluid analysis
pleural peritoneal etc
Antigen detection
Gram stain examination
of fluids
Reference value for neutrophilic cells in the newborn infants

Copy from Manroe B.L, Weinberg AG, Rosenfeld CR, et al.
The neonatal blood count in health and disease I. Reference
values for neutrophilic cells. J Pediatr 1979 ; 95:89.
126
Fig. 18.3: Method of collecting urine in a

female baby for sepsis screening
Fig. 18.1: Septicemia baby. Note abdominal
distentiona non-specific sign
Fig. 18.2: Blood culture bottle
Fig. 18.4: Septicemia normal total neutrophil count after

correction for nucleated RBCs in neonates from birth to 700
hrs of age (adapted from Manroe BL et al J Pediatr 1979:
95:89)
Neonatal Sepsis
Fig. 18.5: CRP kit
Fig. 18.6: Nucleated RBC
127
128
19
Common Neonatal Infections
Newborn infants are at a higher risk of contracting

various infections. Common etiologic agents and
reasons for increased susceptibility are given below.
3.
Etiology
Common Bacteria in Neonatal Infection
1. Early-onset sepsis (in the first 48 hours after birth)
Group B Streptococcus
Listeria monocytogenes
Gram-negative bacilli
Streptococcus pneumoniae
Haemophilus influenzae
Anaerobes
Staphylococcus epidermidis
2. Late-onset sepsis (after 48 hours of age)
Staphylococcus epidermidis
Enterococci Klebsiella pneumoniae
Pseudomonas aeruginosa
Escherichia coli
Other Gram-negative bacilli
Staphylococcus aureus
Anaerobes
4.
5.
6.
Ascending infection via amniotic fluid

Transplacental hematogenous spread.
Exposure to viruses from mother without antibody
Antenatal, e.g. rubella, CMV, HIV
Viremic spread, e.g. chickenpox virus
Perinatal, e.g. herpes simplex virus, hepatitis B
virus
Peripartum factors
Trauma to skin, vessels, etc., during parturition
Scalp electrodes and other invasive obsteric
procedures
Portals of colonization and subsequent invasion
Umbilicus
Mucosal surfaces
Eye
Skin
Exposure to organisms postnatally
Exposure in neonatal unit or lying-in wards, to
organisms from other babies
Overcrowding
Understaffing
Reasons for Increased Susceptibility to

Infection in the Neonatal Period (Term Infants)
Reasons for Greater Susceptibility to

Infection of Preterm Infants
1. Immaturity of the immune system

Poor humoral response to organisms (IgG, IgM
and IgA)
Relatively poor neutrophil function
2. Exposure to micro-organisms from the maternal
genital tract.
1. Immunological
Reduced transplacental transfer of maternal IgG
Relative immaturity of all immune mechanisms
2. Exposure to micro-organisms from maternal genital
tract. Preterm labor may be precipitated by infection
(choriamnionitis).

3. Invasive procedures
Endotracheal tubes
Intravascular catheters
Chest drains
Cerebrospinal fluid shunts
4. Increased postnatal exposure
Organisms from other babies on neonatal unit
Overcrowding and understaffing.
5. Poor surface defenses
Skin thin, easily traumatized
6. Increased risk of conditions predisposing to sepsis
Prolonged artificial ventilation
Intravenous feeding.
7. Antibiotic pressures
Resistant organisms
Fungal infection
129
Fig. 19.1: Meningitis. Note cloudy CSF
Meningitis (Fig. 19.1)

About one-third of babies with sepsis will have
meningitis. The clinical manifestations are frequently
indistinguishable from those of septicemia. These two
facts emphasize the importance of CSF analysis in all
cases of septicemia. The features of bacterial meningitis
in newborns are listed in Table 19.1. The common
etiologic agents are also listed.
Table 19.1: Features of bacterial meningitis
Lethargy
Poor feeds
Altered temperature
Seizures
Vomiting
Abdominal distention
Bulging fontanel
Ophthalmia Neonatorum (Fig. 19.2)

It is one of the common infections encountered in the
neonatal period. Most of these infections are acquired
from maternal genital tract during delivery. It presents
as erythema and edema of palpebral conjunctiva and
eyelids with purulent discharge. Different types of
ophthalmia neonatorum include chemical conjunctivitis,
bacterial conjunctivitis, chlamydial conjunctivitis,and viral
conjunctivitis. The traditional method of differentiating
Fig. 19.2: Ophthalmia neonatorum
ophthalmias by age at presentation is unreliable except

for chemical conjunctivitis which presents within first 24
hrs. The important features of 4 groups of ophthalmia
are summarized in Table 19.2.
130
Table 19.2: Ophthalmia neonatorum
Causative agent
Diagnosis
Treatment
Chemical
Silver nitrate
Absence of bacteria on Gram stain
Bacterial
Staph.aureus, N.gonorrhoeae, Presence of bacteria on Gram stain

pneumococci, Pseudomonas Isolation by culture
Gram-positive-erythromycin oint.
Gram-negative gentamicin
N. gonorrhoeaeIV Penicillin G
Chlamydial
Chlamydia trachomatis
Basophilic intracytoplasmic inclusion

in epithelial cells on Giemsa staining
Isolation by culture (McCoy)
Oral erythromycin topical

tetracycline or sulfacetamide
Viral
Herpes mainly type II
Maternal history viral culture antigen

detection tests
I.V. acyclovir and topical tri

fluoridine
None
Adapted from O Hara MA: Ophthalmia neonatorum. Pediatr Clin North Am 40:715, 1993.
Tetanus (Figs 19.3a to c)

Neonatal tetanus is a totally preventable condition.
Source of toxin in almost all cases is cord contamination
by unsterile technique during delivery or application of
substances like cowdung to cord stump that is practiced
in many parts. The incubation period varies from
3-14 days. The illness starts with nonspecific symptoms
of irritability, refusal to feed followed by lock jaw,
choking, risus, sardonicus, breathing difficulty, generalized rigidity, and opisthotonos. Management is by
neutralization of toxin, control of spasms, use of muscle
relaxants, and general supportive care. Neonatal tetanus
can be prevented by immunizing mother during
pregnancy by two doses of tetanus toxoid and by sterile
delivery practices.
Fig. 19.3b: Neonatal tetanus. Note relaxed body after

sedation in the same baby
Fig. 19.3c: Neonatal tetanus.

Note risus sardonicus
Omphalitis or Umbilical Cord Stump Infection

(Figs 19.4a and b)
Fig: 19.3a: Neonatal tetanus. Note arched
body due to spasm
Umbilical cord stump infection and umbilical sepsis

usually do not occur if proper clean techniques are
131
smelling or there is surrounding periumbilical erythema

or induration. The complications include spread of
infection to abdominal wall, or to the umbilical or portal
vessels, the liver,and the peritoneum:often resulting in
sepsis. Omphalitis usually responds to frequent cleaning
with spirit swabs and application of topical antibiotic
powder. Chronic omphalitis with delayed fall of cord
is seen characteristically in a rare neutrophil function
disorder, leukocyte adhesion deficiency.
Umbilical granuloma develops due to infection, or
due to practice of applying talcum powder to umbilicus.
They can be treated with silver nitrate or copper
sulphate or by dessicating using common salt. Rarely,
surgery may be needed.
Staphylococcal Scalded Skin Syndrome
(SSSS) (Figs 19.5a and b)
It is a generalized manifestation of epidermolytic toxin
produced by Staphylococcus aureus. The toxin splits
Fig. 19.4a: Umbilical granuloma
Fig. 19.4b: Umbilical granuloma
followed during delivery. Interventions like umbilical

catheterization and exchange transfusion increase the
risk. Discharge from umbilicus is common during
neonatal period and a diagnosis of omphalitis, should
not be made unless, the discharge is purulent or foul
Fig. 19.5a: Staphylococcal

scalded skin syndrome
132
Fig. 19.5b: Staphylococcal scalded scale syndrome.

Note digit amputation by incidental ABS
the granular layer of skin and induces proteolysis leaving

extensive areas of denuded skin. The site of primary
infection is often subclinical. The illness starts with
erythema of face, which becomes generalized. This is
followed by eruption of flaccid bullae, and exfoliation
leaving a red moist surface. The lesions are more
pronounced in the extremities. Fluid and electrolyte
imbalance can complicate, if the involvement is more.
Management is by appropriate antibiotics for Staphylococcus and correction of fluid and electrolyte imbalance.
Differential diagnoses include toxic epidermal necrosis,
epidermolysis bullosa, burns, erythema multiforme and
Listeria infection.
Figs 19.6a and b: Bullous impetigo
Scabies (Figs 19.7a and b)

Bullous Impetigo (Figs 19.6a and b)
This condition is caused S. aureus and presents as
bullae of more than 1cm with little or no surrounding
erythema. The same organism also causes SSSS (see
above), but here the toxin is produced locally, and acts
locally. Usually it occurs in the second week of life and
may occur early in the event of prolonged rupture of
membranes.
The bullae are initially filled with clear serous fluid,
which becomes purulent later. Soon, the roof breaks
revealing an erythematous base that quickly dries. The
condition is painless, and the infant remains free of
systemic toxicity.
Scabies in the newborn period is relatively rare. It takes

2-8 weeks to manifest clinically after infestation. Papular
eruption of scabies in neonatal period is seen over the
face, scalp, palms and soles, unlike the intertriginous
localization seen in older children. They are most often
secondarily infected. Other clinical features include
irritability and failure to thrive. Mother and other family
members are often infested. Treatment of choice is 5%
permithrine cream.
Oral Thrush (Fig. 19.8)
Oral thrush is due to mucosal candidial infection,
appearing as plaques of white friable material over
133
Fig. 19.8: Oral thrush
topical application of nystatin 1-2 lakh units 4 times

daily for 2 weeks.
Septic Arthritis (Figs 19.9a to d)
Septic arthritis refers to microbial invasion of synovial
space. In neonates it usually occurs in association with
Fig. 19.7a: Scabies
Fig. 19.7b: Scabies. Note the involvement of whole

bodya peculiar feature in infancy
tongue palate, gingivae and buccal mucosa. If the white

plaque is scraped, erythematous raw surface is seen. It
may interfere with normal feeding. Diagnosis is
confirmed by microscopic examination of the KOH
preparation of the scrapings. It is usually treated by
Fig. 19.9a: Septic arthritis. Note swollen,

red right knee
134
Fig. 19.9b: Septic arthritis.

Note arthrotomy wound
Fig. 19.9c: Septic arthritis of both knee joints. Note soft tissue
swelling of both knees. Periosteal reaction along shaft of
right tibia and left femur. Note erosion of upper tibia and
lower end of femur on right side
Fig. 19.9d: Septic arthritis. X-ray right knee showing soft tissue swelling and widening of
joint space suggestive of joint effusion
osteomyelitis. Common causative organisms are

Staphylococcus aureus Gram-negative bacilli, N. gonorrhoeae etc. Clinical features are listed below.
Management depends on drainage of pus and appropriate parenteral antibiotics for at least 3 weeks.
Initial nonspecific features
Normal temperature/fever
Irritability
Local swelling, redness
Paucity of movement of involved limb
Pain on passive movement
Iatrogenic Thrombophlebitis (Fig. 19.10)
This is probably the commonest superficial infection
Fig. 19.10: Iatrogenic thrombophlebitis
occurring whenever there is a breach in aseptic

precautions. Certain commonly used medications can
also cause this complication like calcium gluconate,
dextrose of high concentration.
Intrauterine Infections
20
135
Certain infections occurring in a pregnant woman

sometimes can result in infection of the fetus in utero
through transplacental transmission. The maternal
infection may be symptomatic or asymptomatic. Fetal
infection will have variable manifestations. It can be
asymptomatic or can cause effects like abortion, stillbirth, congenital malformations, growth retardation,
premature birth etc. Acronym TORCH has been widely
used to focus attention on similarities of clinical
presentation of fetal infection caused by Toxoplasma
gondii, Rubella virus, Cytomegalovirus, Herpes virus
and others (syphilis). The incidence of intrauterine
infection is estimated to be 0.5-2.5%.
Clinical Manifestations
There are certain common clinical manifestations (Table
20.1) associated with TORCH infection. Diagnostic
evaluation for TORCH should be considered in an
infant with any of these presenting features.
Although clinical features overlap, certain features
are more specific for a particular infection and help in
Table 20.1: Common neonatal clinical features

associated with TORCH agents
Growth retardation
Hepatosplenomegaly
Jaundice
Hemolytic anemia
Petechiae/ecchymoses
Microcephaly/hydrocephaly
Intracranial calcification
Pneumonitis
Myocarditis
Cardiac abnormalities
Choreoretinitis
Keratoconjunctivitis
Cataracts
Glaucoma
Non-immune hydrops
Adapted from: Kinney JS, Kumar ML. Should we expand the

TORCH complex? Clin Perinatol 1988:15(4);727.
the diagnostic work up. They are given below. Clinical

history relevant in evaluation is given in Table 20.2.
Flow chart 20.1 describes serological and viral
approach in a suspected case of intrauterine infection.
Table 20.2: Clinical history

Previous obstetric conditions Relevant history to be elicited
Syphilis
Toxoplasmosis
Rubella
Hep-B infection
Herpes viral infection
Genital sore, partner with sexual transmitted disease, previous history of II trimester abortion, stillbirth, affected child.
Contact with cats, eating raw meat, flu-like illness, titer values if available.
Fever with or without rash, often asymptomatic, vaccination status for rubella. (MMR, or rubella
alone), Rubella serum titer values if available
Jaundice in mother, HBsAg carrier status
Genital sores, serum titer values if available
Flow chart 20.1: Serological and viral approach in suspected intrauterine infections
136
137
Fig. 20.1a: CT scan of congenital toxoplasmosis
Fig. 20.2: Bilateral cataract in rubella
Heart defects like PDA, pulmonary artery stenosis,

and septal defects.
Cytomegalovirus (Figs 20.3a and b)
Fig. 20.1b: CT showing hydrocephalus in toxoplasmosis
Toxoplasmosis: Triad of
Hydrocephalus
Stippled intracranial calcification (Figs 20.1a and b)
Chorioretinitis
Rubella
Bilateral central cataract (Fig. 20.2), glaucoma,
pigmented retina.
Blue berry Muffin syndrome
Bones showing vertical striatia
Microcephaly with periventricular calcification

Inguinal hernias in males
Petechiae with thrombocytopenia
Preterm birth, severe IUGR.
Herpes
Vesicular skin lesions and scarring
Curvilinear intracranial calcification
Seizures
Syphilis
Joint swellings
Snuffles
Hepatosplenomegaly
Skin rash (Figs 20.4a and b)
Jaundice, anemia
Metaphyseal osteochondritis, periostitis (Figs 20.4c
to e): VDRL, FTB-ABS, TPI
138
Fig. 20.3a: CT scan. Periventricular calcification in CMV
Fig. 20.4a: Skin rash in syphilis
Fig. 20.3b: Microcephaly in CMV
Fig. 20.4b: Skin rash in syphilis
Fig. 20.4c: Metaphyseal osteochondritis

in syphilis
Fig. 20.4d: Metaphyseal

osteochondritis in syphilis
Fig. 20.4e: Metaphyseal

osteochondritis in syphilis
139
140
21
Perinatal HIV Infection
Virtually all HIV infections in children are the result of

vertical transmission from an HIV infected mother. The
problem is gigantic, especially so in a developing
country like India. The World Health Organization
estimated that more than 40 million persons worldwide
were living with HIV infection at the end of 2001 ; 2.7
million of these were children below 15 years of age
and more than 90% of HIV infected individuals live in
developing countries. The availability of potent
antiretroviral drugs has dramatically decreased perinatal
transmission of HIV.
Intrapartum Transmission
Timing and Mechanism of Transmission
HIV is secreted in the breast milk of infected women.

Infants of HIV infected mothers, who escape infection
during gestation and delivery may still become infected
through breastfeeding. The mechanism of transmission
through breastfeeding is most likely the frequent and
prolonged exposure of infants oral and gastrointestinal
tract to breast milk. This mode of transmission, accounts
for 12-14% of total transmission.
Mother-infant HIV transmission can occur during

pregnancy (in utero), during labor (intrapartum), or
during postpartum period through breast milk. This
type of categorization is important because, the
magnitude of risk, nature of risk factors, opportunities
for prevention, and prognosis for disease progression
are different in each category. In the absence of any
intervention, the overall rate of transmission is
approximately 25%. The factors determining the
transmission are listed in the following Table 21.1.
In Utero Transmission
This occurs through the placenta. An infant is presumed
to have acquired in utero transmission if a specimen
taken in the first 48 hrs after birth tests positive by
culture or polymerase chain reaction for viral DNA. This
mode of transmission accounts for 25-40% of total
transmission.
This type accounts for greater proportion of total

transmission. It occurs through maternofetal transfusion
of blood during labor or contact of infants skin or
mucous membranes with infected blood or other
maternal secretions during delivery. An infant is
presumed to have acquired HIV infection by this mode,
if a specimen taken in the first week of life tests negative
but becomes positive later.
Postpartum Transmission Through
Breastfeeding
Diagnosis of HIV Infection in Neonatal Period

(Fig. 21.1)
The demonstration of HIV IgG antibodies by ELISA,
followed by a positive confirmatory test such as western
blot or immunofluorescence assay, confirms the
diagnosis of HIV infection in older children and adults.
But this is not possible in neonates and infants because
of transplacentally-transmitted. maternal IgG antibodies
are detectable upto 18 month of age and their detection
by ELISA does not indicate infection of the infant. Thus,
141
Table 21.1: Determinants of mother to child transmission of HIV

A. Maternal
Viral load
Biological prototype of virus
Unprotected sex during pregnancy
Smoking and illicit drug use in mother
Maternal level of CD4 and lymphocyte count
Low maternal vitamin A Level
Time of rupture of membranes and chorioamnionitits
Episiotomy and operative vaginal delivery
Presence and amount of virus in genital tract
B. Fetal
Fetus can ingest the virus
Fetal scalp electrode, scalp blood sampling and umbilical blood sampling
Duration of exposure to maternal secretions (first twin)
Via breast milk depending on the immune response and in the newborn period of breastfeeding and infectivity of mother
Fig. 21.1: Three positive tests using three different kits of different manufacturers is considered confirmatory evidence
for HIV-positivity western blot test which is a confirmatory test is not available easily and is expensive and as per the new
guidelines not necessary for confirmation. DNA, RNA, PCRs and viral cultures are other confirmatory tests used commonly
in developed world
detection of infection in infants relies exclusively on

virologic assays. In the absence of breastfeeding, HIV
exposed infants can be accurately diagnosed by 3 to
6 months of age, and in most cases as early as 6 week
of age.
Following are important points (Flow Chart 21.1) to
remember:
An infant of HIV-positive mother is considered to
be infected if two positive results are obtained for
HIV virologic tests from the infants blood at two
different times. These virologic tests include two HIV
cultures or two HIV DNA PCR assays, or two HIV
RNA PCR or a combination of two of the 3 methods.
An infant of HIV-positive mother is considered

uninfected if these virologic tests are persistently
negative until more than 4 months of age in absence
of breastfeeding.
In the absence of hypogammaglobulinemia, two or
more negative HIV-specific IgG antibody tests
performed beyond 6 months of age with an interval
of at least 1 month between assays also reasonably
rules out HIV infection in infants with no clinical
evidence of HIV disease.
Reference: Fowler MG, Simonds RJ, Roongpisuthipong A.
Update on perinatal HIV transmission. Pediatr Clin North Am
2000 ; 47 (1): 21-38.
142
Flow chart 21.1: Diagnostic algorithm
* Need to repeat DNA PCR/culture to rule out false positive.

**If child breast-fed, still at risk and will need DNA PCR < 18 months or ELISA AB > 18 months.
From: Nielson K, Bryson YJ. Diagnosis of HIV infection in children. Pediatr Clin North Am 2000 ; 47 (1): 39-63.
Table 21.2: Treatment regimens for HIV-positive pregnant woman (Fig. 21.2)
Pregnant woman
with no prior ART
Mother presenting in labor
Mother who has already

delivered (with no ART in
pregnancy)
Antepartum
ZDV 300 mg BD starting at

34 weeks of pregnancy
Intrapartum
ZDV 300 mg every 3 hours

through labor
NVP 200 mg stat
Postpartum to newborn
+ ZDV 4mg/kg BD 6 weeks.
NVP 2 mg/kg single dose

within 72 hrs.
NVP 2mg/kg single dose

within 72 hrs.
Infant-feeding
Mother will choose either

feeding or any feeding
Informed to exclusive breastfeeding or safe alternative
Exclusive breastfeeding.
Treatment regimes for HIV-positive pregnant women:

Different treatment regimes are available to reduce the
rate of transmission of HIV from mother to child. These

are listed in the Table 21.2.
Fig. 21.2: In the prevention of parent to child transmission

at the time of delivery a single dose of this drug to mother
in the labor room and to baby within 72 hours of birth has
played a big role especially in developing countries
ANTIRETROVIRAL THERAPY (ART)

Counseling
Counseling is a dialog, which aims to enable an
individual to take decision and find realistic way to
coping. (Dialog-discussion directed towards exploration
of a subject or resolution of a problemOxford
Dictionary).
In the context of PPTCT, counseling gives following
benefits:
Gives informationhelps in decision on voluntary
counseling and tests of mother and father
Weighs up the risk and advantage of pregnancy.
Male choice about contraception.
Male choice about preventing future HIV infection
including condom use.
Explains steps to minimize the transmission to the
baby.
143
Fig. 21.3: In PPTCT program all mothers attending antenatal

clinic counseling regarding parent to child transmission of
HIV before mothers subject themselves for voluntary testing
of their HIV status
3. Implication of positive and negative test results.

4. Informing about benefits and possible disadvantage
of testing.
5. If the test comes positive for a pregnant woman,
then its implications to the unborn child, interventions available to reduce the transmission to child
should be explained.
Post-test Counseling (Fig. 21.4)
The result of the test must be told, at a time and date
chosen by the patient. If admitted during labor as an
emergency, counseling and testing will have to be done
then and there. It should be told to the patients that
Group Counseling (Fig. 21.3)

This is done before a person is tested for HIV status.
Counseling is given to a group of 10-15 members at
a time. The salient components of group counseling are.
1. Providing basic information about HIV, AIDS,
Methods of transmission, tests available to detect.
2. Reason for HIV tests.
Fig. 21.4: After voluntary counseling and testing if the mother

is found to be positive for HIV. She is offered one-to-one
counseling maintaining strict confidentiality
144
whatever may be the result, it will be kept confidential.

The positivity of result should be told gently, clearly and
as humanely as possible. The counselor must deal with
the feeling arising form a positive result and must give
emotional support. Wherever possible, refer to
community support organization. About breastfeeding,
the decision should be left to the mother after
explaining the pros and cons of stopping breastfeeding
(see below) decision about antiretroviral treatment and
the advantages and disadvantages of it.
Universal Work Precautions
Wash hands before and after all patient or specimen
contact (Fig. 21.5).
Handle the blood of all patients as potentially

infectious (Fig. 21.6).
Wear gloves for potential contact with blood and
body fluids.
Place used syringes immediately in nearby impermeable container; do not recap or manipulate
needle in any way.
Wear protective eye-wear and mask if splatter with
blood or body fluids is possible (e.g. Bronchoscopy,
oral surgery, etc)
Wear gowns when splash with blood or body fluids
is anticipated.
Handle all linen soiled with blood and/or body
secretions as partially infectious.
Process all laboratory specimens as potentially
infectious.
Wear mask for TB and other respiratory organisms
(HIV is not air borne).
Postexposure Prophylaxis
Health care workers are normally at a very low risk of
acquiring HIV infection during management of patients.
The risk is estimated to 0.3%per exposure.
Steps to be taken in case of accidental exposure are
given below.
Fig. 21.5: Proper hand-washing technique
Fig. 21.6: Waste should be disposed off in appropriate containers. Blue bin: Syringes, IV dripsets, catheters, Ryles tube
and other plastic wastes. White bin: Sharp objects like blades,
needle, and glass pieces. Yellow bin: Body fluids, dressing
material like gauze pieces contaminated with blood, or pus
Immediate steps: Needle sticks and cuts should be

washed with soap and water.
Splashes to the nose, mouth or skin, should be
flushed with water.
Eyes should be irrigated with clean water saline, or
sterile irrigants.
Even though, no scientific evidence exists as to the
fact that the squeezing and encouraging bleeding
and local application of antiseptics reduce the risk
of infection, these measures should always be done.
Immediately after an accidental exposure report to
the appropriate authority and the condition should
be treated as an emergency.
Postexposure prophylactic (PEP) should be started
depending on the three determinants.
Degree of exposure to HIV (determined by the
exposure code) (Flow chart 21.2)
HIV status of the source from whom exposure/
infection has occurred (Flow chart 21.3)
PEP recommendations (Table 21.3)
145
Flow chart 21.2: Determination of the exposure code (EC)
The decision to start PEP should be made as soon

as possible (within hours). Sooner it is started,
greater the benefit. Initiating treatment after 72 hrs
is not recommended as a prophylactic measure but
may still be useful as early treatment of HIV
infection, in case infection has occurred.
Breastfeeding and HIV (Fig. 21.7)
Clear advice and support of feeding options should be
given to HIV-positive women. This will need appropriate
training of the counselors and health care workers.
Training will include breastfeeding counseling,
complementary feeding, infant feeding in MTCT, and
replacement feeding options. The aim of such a

counseling should be not just the giving of information,
but to empower the mother to assess the appropriateness of the alternatives to her specific situation. Every
effort should be made to promote exclusive
breastfeeding up to four months in HIV positive
mothers followed by weaning and complete stoppage
of breastfeeding at 6 months in order to restrict
transmission through breastfeeding. However, such
mothers will be informed about risk of transmission of
HIV through breast milk and its consequences and
would be helped for making informed choice regarding
infant-feeding.
146
Fig. 21.7: Counseling of HIV-positive mothers for breastfeeding is a big dilemma.

Breastfeeding is an independent risk for transmission (17%)
Flow chart 21.3: Determination of the HIV status code (HIV SC)
Basic regimen: Four weeks (28 days) of both Zidovudine 600 mg/day in
2-3 divided doses and Lamivudine 150 mg twice a day.
Expanded regimen: Basic regimen plus either Indinavir 800 mg every 8 hrs or
Nelfinavir 750 mg three times a day.
Indinavir should be taken on empty stomach (i.e. without food or with a light meal)
and with increased fluid consumption.
Nelfinavir should be taken with meals.
147
Table 21.3: Determination of PEP recommendation

EC
HIV SC
1
1
1
2
1 or 2
UNKNOWN
PEP recommendation
PEP may not be warranted
Consider basic regimen.
Exposure type poses a negligible risk for HIV transmission
Recommended basic regimen
Most HIV exposures are in this category ; no increased risk for HIV
transmission has been observed but use of PEP is appropriate
Recommended expanded regimen.
Exposure type represents an increased HIV transmission risk.
Recommended expanded regimen.
Exposure type represents an increased HIV transmission risk.
If the source (in the case of an unknown source), the setting where the
exposure occurred suggests a possible risk for HIV exposure and the EC
is 2 or 3, consider PEP basic regimen.
BIBLIOGRAPHY
1. Diagnosis of HIV infection in children. Pediatr Clin N Am
2000: 47:39-63.
2. Fowler MG et al. Update on perinatal HIV transmission.

Pediatr Clin N Am 2000; 47:21-38.
148
22
Hypoxic Ischemic
Encephalopathy
Hypoxic ischemic encephalopathy (HIE) is one of the

consequences of perinatal asphyxia. This is commonly
seen in term babies with asphyxia. Clinically, HIE can
be mild, moderate and severe. These are summarized
in Tables 22.1 and 22.3. Apart from HIE, perinatal
asphyxia can cause abnormalities in other organs also
(Table 22.2). They are summarized below. The CT
features are shown in the Figures 22.1 and 22.2.
Table 22.1: Clinical features of HIE
Stage 1:
Stage 2:
Stage 3:
Hyper-alert
Normal muscle tone
Weak suck
Low threshold Moro
Mydriasis
No seizures
Lethargic or obtunded
Mild hypotonia
Weak or absent suck
Weak Moro
Miosis
Focal or multifocal seizures
Stuporous, responds to strong stimuli only
Flaccid
Intermittent decerebration
Absent suck
Poor pupillary light response
Adapted from: Sarnat HB, Surnat MS. Neonatal encephalopathy following fetal distress. Arch Neurol 1976; 33:696.
Table 22.2: Other complications of perinatal asphyxia
Acute tubular necrosis

Hepatic necrosis
Cardiomyopathy
Necrotizing enterocolitis
Persistent pulmonary hypertension
Syndrome of inappropriate secretion of ADH
Adrenal insufficiency
Table 22.3: Hypoxic ischemic encephalopathies
another grading
Mild:
Consciousness:
Tone:
Seizures:
Time course:
Prognosis:
Moderate:
Consciousness:
Tone:
Seizures:
Time course:
Prognosis:
Severe:
Consciousness:
Tone:
Seizures:
Time course:
Prognosis:
Transitory lethargy followed by jitteriness

Mild head lag on traction
None
Symptoms maximal in first 24 hours
Good
Obtundation, may progress to coma
Hypotonic posture at least, poor traction
response
May or may not be present
Symptoms maximal at 48 to 72 hours
Guarded
Stupor and coma
Severe hypotonia at rest and in traction
A constant feature (EEG if not clinical)
Symptoms maximal from birth to 72 hours
Usually poor
Adapted from: Fenichel GM (ed). Neonatal Neurology 3 rd

edn. Churchil Livingstone INC: New York, 1990.
Hypoxic Ischemic Encephalopathy
Fig. 22.1a: Normal CT scan. Compare with

CT scan showing cerebral edema
Fig. 22.1b: CT scan showing cerebral edema
Fig. 22.2: CT scan showing HIE cystic changes
149
150
23
Problems of
Temperature Regulation
Providing warmth is one of the basic needs of a

newborn infant. Maintaining euthermia is important for
optimal growth. There are certain factors that make a
newborn infant susceptible to loose heat like large
surface area, large head in proportion to body, and little
subcutaneous fat. All these factors get exaggerated in
low birth weight babies.
When exposed to cold environment, unlike adults
newborn infants do not shiver in order to produce heat.
Nevertheless, they maintain body temperature by
burning brown fat that makes up about 2-6% of their
total body weight. But this is not true in very premature
babies who have less amount of brown fat and
increased evaporative water loss. Thus, they are more
susceptible for hypothermia and its consequences.
Modes of Loosing Heat
There are four ways by which body can loose heat (Fig.
23.1).
1. Conductive loss: This occurs due to differences
in temperatures between the baby and the surface
on which he lies.
2. Convective loss: This occurs due to air currents
around the baby.
3. Evaporative loss: This occurs due to latent heat
of evaporation and depends on how wet the baby
is, the thickness of the skin, and humidity of
environment.
4. Radiation loss: This is due to temperature
gradient between 2 objects facing each other.
Fig. 23.1: Modes of loss of heat
THERMONEUTRAL TEMPERATURE
For a particular gestational and postnatal age, there is
a narrow range of temperatures in which oxygen
requirement by the baby is at the lowest. This narrow
range is termed as thermoneutral temperature. If the
ambient temperature fall above or below this, metabolic
rate increases interfering with growth.
NONSHIVERING THERMOGENESIS
As said above, newborn do not shiver and produce
heat. Instead heat is produced by the breakdown
of metabolically-active adipose tissue called brown
fat. Blood gets warmed as it passes through brown fat
and rewarms rest of the body. The distribution of brown
fat is shown in the Figure 23.2 and important
differentiating features form ordinary fat are shown
in Table 23.1.
Problems of Temperature Regulation
151
Flow chart 23.1: Vicious circle of neonatal hypothermia
Fig. 23.2: Distribution of brown fat

Table 23.1: Difference between brown fat and white fat
Brown fat
Many vacuoles per cell

Good vascularity
High innervation
Many mitochondria
Cold stimulates activity
For heat production
White fat
One vacuole per cell

Poor
Low
Few
Starvation stimulate breakdown
For nutrition
Table 23.2: Predisposing factors for hypothermia

in preterms
Thin skin
Increased body surface area to weight ratio
Decreased subcutaneous fat
Decreased amount of brown fat
Extended posture, which exposes more skin surface
Under developed autonomic regulation of cutaneous
vasculature
Neonatal Cold Injury

As said above the predisposing factors for neonatal cold
injury are prematurity (Table 23.2) and in term infants,
intracerebral hemorrhage and CNS malformations. The
vicious circle of cold injury is given in Flow chart 23.1.
Grading Temperatures
Core Body temperature should be taken by checking
rectal temperature with the help of a low reading
thermometer. Normal temperature of a newborn baby
is 36.5-37.5C. The newborn with a temperature of
36.0-36.4C (96.8-97.5F) is under cold stress and
immediate measures to warm the baby may be
rewarding. A newborn with the temperature of 32.035.9C (89.6-96.6F) has moderate hypothermia, while
a temperature less than 32C (89.6F) is severe
hypothermia (Fig. 23.3). Both later situations may lead
to serious morbidity and mortality.
Fig. 23.3: Grades of temperatures
Clinical Features
Lethargy, sluggishness, poor feeding.

Slow, shallow, irregular respiration
Bradycardia
Feels cold to touch
Bright red color of face due to poor dissociation of
oxyhemoglobin at low temperatures giving false
impression of well-being.
Edema and sclerema of skin
Pulmonary hemorrhage
DIC
Metabolic derangements
Management
Rewarming: slow rewarming by keeping the ambient
temperature 1.5C higher than skin temperature is
recommended.
152
Administer oxygen
Monitor blood glucose
Correct metabolic acidosis by sodium bicarbonate.
Prevention of Hypothermia in Newborn
In Delivery Room
Use prewarmed sheets to receive the baby
Dry the baby well, with warm towels with special
attention to dry up the scalp
Remove moist, soiled linen and wrap the baby in
fresh, warm sheets
Practice kangaroo care as soon as feasible.
In the Nursery
Incubator (Fig. 23.4a): It is a closed system of maintaining euthermia. When a baby is kept inside an
incubator, convective heat losses are reduced by
reducing air currents. Radiation losses are controlled by
hood or canopy (single or double walled). Conductive
losses are also reduced by maintaining a warm
microenvironment. In India most intensive care units
have single walled incubators. If the room temperature
is low the infant looses heat to cold incubator wall.
Thus, double walled incubators in which the
temperature of the inner wall is not affected by a cooler
room temperature should be preferred.
Main parts of an incubator:
Humidity tank
Hood or canopy
A servo control system for automatic adjustment in
the ambient temperature. This has two types of
control systems: air mode (Fig. 23.4b) and baby
mode (Fig. 23.4c) as shown in the picture.
Advantages: (Table 23.3)
Good thermal regulation
Use is preferred in extremely small or sick babies.
Readily cleanable.
Disadvantages: Access to infants difficult
Not suitable for undertaking prolonged procedures
like exchange transfusion
Increased risk of infection
Costly.
Fig. 23.4a: Baby kept in an incubator
Fig. 23.4b: Air mode of servo control
Fig. 23.4c: Baby mode of servo control
Radiant Warmers (Fig. 23.5)

It creates a warm microenvironment by providing heat
energy by radiation. It is also called open care system,
as it gives easy access to the baby.
Parts:
Basinet for placing the baby
Over head heater
Servo control system
Problems of Temperature Regulation
153
Fig. 23.6: Room heater
Disadvantages:
Not preferable in extremely small or gravelly sick
neonates
Temperature control less optimal due to heat loss
Room Heaters (Fig. 23.6)
Fig. 23.5: Baby kept under radiant warmer
Increasing the room temperature to 30-32C using

room heaters is a cheaper alternative measure to
prevent neonatal hypothermia. But, these are uncomfortable for nursing staff.
Skin sensor
Control panel
Temperature display
Alarms for safety.
Advantages: (Table 23.3)

Easy access to the infant
Less chances of nosocomial infection
Most suitable for undertaking prolonged procedures
like exchange transfusion
Less expensive
Use of Caps and Warm Clothes (Fig. 23.7)

Growing and stable babies should be covered fully .The
relative large size of head (12% of body weight
compared to 2% in the adult) can lose greater
proportion of body heat. Double-layered caps can
significantly reduce the loss.
Table 23.3: Major differences between radiant warmers and incubators

Radiant warmer
Incubator
Open care system hence easy accessibility

Over head heater with reflector with reflector to
focus radiant heat
Easy to clean and maintain
Lower risk of infection unless infant excessively
handled
Cheaper
Closed system hence less accessibility

Under dark heater and fan to circulate warm
filtered air
Difficult to clean and maintain
Risk of infection increases, if not adequately cleaned
and disinfected
Expensive
Modified and adapted from: Deodari AK, Paul VK. Neonatal equipment 2001, 2nd edn Sagar Publications: New Delhi.
154
If baby is in incubator or on ventilator care, start
with short duration and extend progressively.
Infants should be naked except for diaper and cap
Put the infant with flexed limb on mothers bare
chest, between her breasts and inside her clothing.
Extend babies neck to prevent obstructive apnea.
Monitor vital signs including temperature
Fig. 23.7: Baby wrapped in warm clothes and covered

with caps
Fig. 23.8: Kangaroo mother care
Kangaroo Mother Care (Fig. 23.8)

Kangaroo care is defined as skin-to-skin contact between
a mother and her low birth weight infant in a hospital
setting. This term was later changed to kangaroo mother
care (KMC) to emphasize the importance of mother and
mothers milk. The guidelines for KMC are as follows.
Initiate kangaroo care as early as possible
Benefits of KMC:
Has popular appeal
Promotes breastfeeding
Babies remain physiologically more stable including
thermally.
Boosts maternal confidence and bonding.
Decreases risk of infection
Cheaper and safer than any other warming device
Warm chain:
The warm chain is a concept introduced to describe a
set of interlinked procedures, which will minimize the
likelihood of development of hypothermia. Any breach
in the chain of procedures increases the risk of
hypothermia. The links of warm chain are given in the
information box:
1. Training all persons involved in the birth and
subsequent care of the baby.
2. Preparing the place of delivery by ensuring a warm,
draught free room.
3. Immediate drying of the newborn baby.
4. Wrapping the baby and giving it to the mother
quickly after birth.
5. Putting the baby to the mothers breast
6. Putting a warm cap on the babys head
7. Ensuring a warm, safe transport if necessary.
BIBLIOGRAPHY
1. Klaus MH, Fannroff AA. In Klaus MH, Fanaroff AA (eds).
Care of the High Risk Neonate. 5th edn W.B. Saunders
Company 2001.
2. Kirsten GF et al. Kangaroo mother care in the nursery.
Pediatr Clin N Am 2001; 48; 443-445.
Neonatal Convulsions
24
Convulsions in the newborn period are one of the most

frequently encountered clinical problems. Approximately 0.5% of term babies and 21% of preterm babies
develop this problem, well-organized tonic-clonic type
of seizure that is common in the older children is not
seen in neonates owing to the immaturity of the
newborn brain their clinical expression at this age is
quiet variable subtle and often poorly organized. It is
critical to recognize seizure activity as they indicate
significant underlying abnormality and if unattended,
can cause permanent neurological damage. The clinical
types, classification, etiology and other related factors
are dealth with in Tables 24.1 to 24.6).
Table 24.1: Types of seizures in neonates
Fig: 24.1a: Staring look
Subtle or fragmentary seizures

Clonic seizures
Tonic seizures
Myoclonic seizures
Table 24.2: Close mimics of convulsions
Jitteriness (Table 24.3)

Benign neonatal sleep myoclonus
Stimulus evoked myoclonus
Subtle Convulsions (Fig. 24.1a)

Subtle convulsions comprise 50% of all neonatal
seizures. The clinical forms include staring look, eye
fluttering, lip smacking, drooling and other orobuccolingual movements, rowing, pedaling, apneic spells.
Thus one has to be aware of subtle but important
manifestation of seizure activity in neonates.
Fig. 24.1b: CT scan showing features of HIE
155
156
Table 24.3: Differences between seizure and jitteriness
Features
Seizure
Jitteriness
Eye deviation or other ocular manifestations

Stimulus sensitive
Dominant movement
Movement ceases with gentle passive flexion
EEG
Present
No
Clonic jerking
No
Abnormal
Absent
Yes
Tremor
Yes
No change
Table 24.4: Etiological classification of seizures

Metabolic
Hypoxic ischemia (Fig. 24.1b)
Hypoglycemia (Fig. 24.2)
Hypocalcemia
Other electrolyte imbalances
Pyridoxine dependent
Cerebrovascular lesion
Infarction (Fig. 24.3)
Cortical vein thrombosis
Trauma
Subarachnoid hemorrhage (Fig. 24.4a)
Intracerebral hemorrhage (Fig. 24.4b)
Subdural hemorrhage (Fig. 24.4c)
Intraventricular hemorrhage (Fig. 24.4b)
Infection
Brain anomalies (Figs 24.5a and b)
Hypertensive encephalopathy
Amino acid metabolism defects
Familial seizures
Neurocutaneous syndromes (Fig. 24.6)
Tuberous sclerosis
Incontinentia pigmenti
Selected genetic syndromes
Zellwegers (Fig. 24.7)
Neonatal adrenoleukodystrophy
Smith-Lemli-Opitz syndrome (Fig. 24.8)
Fig. 24.2: Glucometer
Table 24.5: Investigations following neonatal seizures

First line
Pulse oximetry
Glucose
Packed cell volume
Sr. calcium, sodium, magnesium
Arterial pH
Lumbar puncture, blood cultures
Cranial ultrasound
EEG (Figs 24.9a and c)
Second line
CT
Specimens for detecting congenital infections
Serum ammonia, amino acids
Urinary amino acids and organic acids
Therapeutic trial of pyridoxine
Modified and adapted from: Evans D, Levene M. Neonatal
seizures. Arch Dis Child Fetal Neonatal Ed 1998;78: F70-F75.
Fig. 24.3: Infarction
Fig. 24.4a: Subarachnoid hemorrhage
Fig. 24.4b: Intraventricular bleed with cerebral extension
Fig. 24.4c: Subdural hemorrhage with

parenchymal extension
Table 24.6: Causes of seizures according to age
Common
1st day
2nd day
3rd day
4-7 days
5th day
157
Uncommon
Anoxia, IVH
Hypernatremia, hyponatremia, hypomagnesemia
hypocalcemia, anomalies CNS infection, accidental injection of local anesthetic
Birth trauma
Sepsis, TORCH
Hypoglycemia, sepsis
Drug withdrawal e.g., (pyridoxine)
Sepsis or meningitis, hypocalcemia, Kernicterus
Zinc deficiency
158
Fig. 24.5a: Lobar holoprosencephaly
Fig. 24.7: Zellwegers syndrome
Fig. 24.5b: Porencephaly
Fig. 24.6: Neurofibromatosis. Note caf au lait spots in

the baby and neurofibroma in the mother
Fig. 24.8: Smith-Lemli-Opitz syndrome
Fig. 24.9a: Hypsarrhythmia in infantile spasms or West

syndrome
159
Fig. 24.9b: Hypsarrhythmia in infantile spasms or West

syndrome
Fig. 24.9c: Hypsarrhythmia in infantile spasms or West

syndrome
160
25
Bleeding Neonate
Bleeding during neonatal period can occur due to a

wide range of hereditary and acquired causes. The
newborn infant is particularly susceptible due to a
variety of reasons such as physiologic deficiencies of
coagulation factors, prenatal influences like maternal
diseases or drugs, immaturity of blood vessels,
vulnerability to birth trauma, and other conditions
associated with bleeding such as sepsis and asphyxia.
Clinical Presentation
Approach to a Bleeding Neonate
Always ask family history of bleeding disorders

Ask maternal history of condition predisposing, e.g.
SLE, ITP, drug intake, etc.
Enquire about administration of vit K
Type of bleed
Oozing from umbilicus (Figs 25.1a and b)

Bleeding into the scalp
Large cephalohematomas
Bleeding after ritual circumcision
Bleeding from venepuncture sites (Fig. 25.1e)
Mucosal bleedinggastric, rectal (Fig. 25.1c)

Intracranial hemorrhage (Fig. 25.1d)
Petechiae, ecchymosis
Hematoma over skin (Fig. 25.1f)
Etiology
The causes are listed in the Table 25.1.
Table 25.1: Causes of bleeding in the newborn

Impaired vascular function: acidosis, hypoxia, prematurity, etc.
Platelet disorders: Qualitative
- Glanzmanns disease
- BernardSoulier syndrome
Quantitative
- Isoimmune thrombocytopenia
- Maternal ITP/SLE
- Maternal drug intake
- Infection/sepsis and DIC
- Inherited thrombocytopenia
- Giant hemangiomas
- Hyper-viscosity syndromes
Coagulation defects:
Transitory deficiency of vit K-depended factors
Disturbance of clotting in systemic illness like NEC, shock, anoxia, liver disease.
Inherited deficiency of clotting factors.
Bleeding Neonate
Fig. 25.1d: Subdural hemorrhage
Figs 25.1a and b: Umbilical bleed. This is how this baby who
was brought to the hospital. A diagnosis of Factor 13
deficiency was made by family history, bleeding despite
receiving vit K, and urea dissolution test
Fig. 25.1c: Rectal bleed
Fig. 25.1e: Bleeding into venipuncture site
Fig. 25.1f: Hematomas over the skin
161
162
Small petechiae or mucosal bleed usually suggestive

of platelet disorder.
Enlarge spleen, large bruisesclotting factor
deficiency, DIC
Enlarged liverIUI
Jaundiceinfection or liver disease
Healthy infantsimmune thrombocytopenia, vit K
deficiency, congenital coagulation factor deficiency
Sick infantsDIC, infection, liver disease
Laboratory studies which help in diagnosing are
given in Table 25.2.
Vit K Deficiency Bleeding (VKDB) (Fig. 25.2)
This disorder should be considered in a bleeding but
otherwise healthy neonate. It presents in 3 forms, which
are summarized along with etiology and treatment in
the Table 25.3.
Fig. 25.2: Vitamin K injection
Table 25.2: Laboratory findings which help in arriving at a diagnosis

General
condition
Sick
Well
Platelets
PT
APTT
N
N
N
N
N
N
N
N
N
N
N
Diagnosis
DIC
Platelet consumption
Liver disease
Vascular hypoxia, acidosis, prematurity
Immune thrombocytopenia marrow aplasia
HDN
Inherited coagulopathy
Trauma factor XIII deficiency Glanzmanns syndrome
Table 25.3: Hemorrhagic disease of the newborn

Early
Classical
Late
Age
<24 hr
2-7 days
2-8 wks
Causes/risk factors
Medications during
pregnancy-INH, RMP
Anticonvulsants
V K content in breast
milk, sterile gut
Disorders interfering with vit. K

absorption, vit K in breast milk
Treatment
Discontinue offending
agent, maternal vit K
prophylaxis
Adequate vit K supply,

vit K prophylaxis
Adequate vit K supply, vit K prophylaxis
Manifestations
Cephal hematoma
Subgaleal hemorrhage
Intracranial hemorrhage
Gastrointestinal
Umbilicus
Intra-abdominal
Gastrointestinal
ENT bleed
Intracranial
Circumcision
Cutaneous
Gastrointestinal
Injection site
Intracranial
Gastrointestinal
Cutaneous
ENT Bleed
Injection site
Thoracic
Infants of Diabetic Mothers 163
26
Infants of Diabetic Mothers
Poorly-controlled diabetes during pregnancy affects

multiple organ systems of the growing fetus resulting
in high morbidity and mortality. The abnormalities
seen in the newborn can grouped into two categories:
embryopathy and fetopathy (Table 26.2). Embryopathy includes the congenital malformations, which arise
as result of the insult occurring in the embryonic period
i.e. at the time of organogenesis which occurs between
3rd and 7th weeks of gestation (Table 26.3). Fetopathy
occurs after 10th week and includes macrosomia and
other postnatal complications but is not associated with
malformations. Common problems arising from poorlycontrolled maternal DM are listed in Table 26.1. The
pathogenesis of some morbid features of IDM is shown
in Flow chart 26.1. The exact pathogenesis of these ill
effects are not known. Some of the probable teratogens
have been thought to be responsible which are listed
in Table 26.4.
Table 26.2: Diabetic fetopathy

Macrosomia
Intrapartum shoulder dystocia
Clavicular fracture
Cranial nerve palsies
Brachial plexopathy (palsy)
Hypoglycemia
Polycythemia
Hypomagnesemia
Hyperbilirubinemia
Hypocalcemia
Cardiomyopathy (thickened interventricular septum)
Table 26.1: Problems of infants of diabetic mothers
Macrosomia
Hypoglycemia
Hypocalcemia/hypomagnesemia
Polycythemia/hyperbilirubinemia
Transient tachypnea of the newborn
Hypertrophic cardiomyopathy
Small left colon (Fig. 26.1)
Fig. 26.1: Hypoplastic left colon
164
Table 26.3: Diabetic embryopathy
Location
Malformations
CNS
Open neural tube defects, holoprosencephaly absent corpus callosum, Arnold-Chiari anomaly,
schizencephaly, microcephaly, macrocephaly, agenesis of olfactory tracts, hydrocephaly, bizarre
undergrowth or overgrowth of brain
Transposition of great vessels, VSD, ASD, TOF, CoA, SUA, hypoplastic left heart, cardiomegaly
Pyloric stenosis, duodenal atresia, microcolon, anorectal atresia, omphalo-enteric cyst/fistula, hernias
Renal agenesis, renal cysts, hydronephrosis, duplication of ureter, ureterocele, uterine agenesis, hypoplastic
vagina, micropenis, hypospadias, cryptorchidism, hypoplastic testes, ambiguous genitals
Caudal dysgenesis/deficiency (Fig. 26.2), craniosynostosis, costovertebral anomalies, limb reduction, cleft
palate, club foot, contractures, polysyndactyly
Situs inversus, microphthalmia, colobomas of iris or chorioretina, anterior chamber dysgenesis,
diaphragmatic hernia, bronchial arch anomalies, choanal atresia, aplasia cutis, cutaneous vascular dysplasia
Cardiovascular
Gastrointestinal
Urogenital
Musculoskeletal
Others
Table 26.4: Putative teratogens in diabetic embryopathy

Metabolism
Results
Carbohydrate
Hyperglycemia
Hyperglycemia in rats>humans
Lipid metabolism
Protein metabolism
Trace metals metabolism
Sorbitol
Nonenzymatic glycosylation of proteins
Radical O2 species
Collagen
Uptake of myoinositol
Arachidonic acid
Uptake of vitamin C
Prostaglandins
Superoxide dismutase
Ketones (hydroxybutyrate and keto-isocaproic acid)
Somatomedin inhibitors
Insulin
Zinc
Decreased level, increased level

Flow chart 26.1: From Schwaartz R. et al; J Pediatr
Endocrinol 1992; 5; 197
Fig. 26.2: Caudal regression syndrome
Infants of Diabetic Mothers 165

Macrosomia (Figs 26.3a to d)
An infant is termed macrosomic if his birth weight is
more than 4000 g or weighs above 90th centile for the
gestational age. The classic appearance of an IDM is that
of a large, ruddy, puffy, fat and often limp infant with
Fig. 26.3a: Infant of diabetic mother. Note macrosomia
Fig. 26.3b: Macrosmia baby. Note peculiar facies
Fig. 26.3c: Infant of diabetic mother. Note macrosomia. Also note characteristic hairy pinna
Fig. 26.3d: Infant of diabetic mother. Chest

X-ray showing cardiomegaly.
legs held in a flexed and abducted position. There is

associated visceromegaly except for brain and kidney.
The pathogenesis is depicted in the Flow chart 26.1.
The common problems of macrosomic infants are
increased risk of birth injury, fetal distress, birth
asphyxia, etc. Differential diagnosis includes Beckwith-Wiedemann syndrome. Other maternal risk factors
for macrosomia include multiparity, weight more than
70 kgs, prolonged pregnancy and previous history of
macrosomic infant.
166
27
Neonatal Anemia
Anemia in newborn period is defined as packed cell

volume of <40%. It is broadly classified into three
categories based on the etiology: blood loss anemia,
hemolytic anemia and anemia as a result of decreased
production. Causes of anemia in the neonatal period
are given in Table 27.1. A diagnostic approach to
anemia in newborns is also given in Table 27.2 and
Flow chart 27.1.
Pallor
Pallor is the external manifestation of severe anemia,
but pallor may be seen in other condition like shock,
asphyxia, and hypothermia etc. Preterm babies may
not look pale despite anemia due to presence of thin
skin.
Table 27.1: Causes of anemia in the neonatal period

Blood loss
a. Occult hemorrhage prior to birth
Example: Amniocentesis in third
trimester, abdominal trauma,
twin transfusion syndrome
b. Obstetric accidents, malformation
of the placenta and cord
Example: Abruptio placenta,
hematoma of cord or placenta.
Rupture of anomalous vessels
(Fig. 27.1)
c. Internal hemorrhage (Figs 27.2a
to c)
Intracranial
Giant cephal hematoma
Caput succedaneum
d. Intra-abdominal organ rupture
by birth trauma (Fig. 27.3)
e. Iatrogenic due to repeated
sampling
Hemolysis
1. Immune
Rh/blood group incompatibility
maternal autoimmune hemolytic
anemia
2. Infection
Bacterial sepsis
Congenital infection including
malaria
3. DIC
4. Macro or micro-angiopathic
anemia
5. Red cell membrane disorders
6. Red cell enzyme deficiencies
7. Thalassemias - and
8. Structural abnormality of and
chains
9. Galactosemia
10. Pyknocytosis
11. Prolonged acidosis
Decreased production
1. Diamond-Blackfan syndrome
2. Pearsons syndrome
3. Congenital infections
Human parvovirus
Adenovirus
CMV
Rubella
Hemangiomas (Fig. 27.4)
Congenital Leukemia
(Fig. 27.5)
4. Down syndrome
5. Osteoporosis
Modified and adapted from: Nathan and Oskis Hematology of Infancy and Childhood 5th edn. W.B. Saunders Company.
Neonatal Anemia
Fig. 27.1: Accessory lobe of placenta the interconnecting

vessels (arrow) are more prone to get ruptured
Fig. 27.2b: Subgaleal bleed
Fig. 27.2a: Cephal hematoma
Fig. 27.2c: Subdural bleed
167
168
Fig. 27.3: Intra-abdominal injury with scrotal hematoma
Fig. 27.5: Congenital CML
Fig. 27.4: Hemangioma
Neonatal Anemia
Flow chart 27.1: Algorithm for lab evaluation of neonatal anemia
169
170
Table 27.2: Clinical evaluation of anemia in newborn
1. Family history (esp. Sibs)

Relevant cause
Anemia
Hemolytic, e.g. hemoglobinopathies, immune mediated,
Jaundice
hereditary spherocytosis
Splenectomy
G6PD deficiency, immune-mediated
Gallstones
Hereditary spherocytosis, hemoglobinopathies
2. Obstetric history
Traumatic/instrumental delivery
ICH, cephal hematoma, rupture spleen/liver
APH
Fetoplacental bleed, fetomaternal bleed
Twins
Twin-to-twin transfusion
Drugs (e.g. anticonvulsants, antitubercular drugs) Early HDN
Cesarean section- incision of placenta
Fetoplacental bleed
3. Neonatal
Vitamin K administration
Relevance -HDN
Evidence for sepsis
Septicemia, DIC
GIT bleed
NEC, sepsis, HDN
Jaundice
Hemolysis
Physical examination
1. Acute blood loss
Shock, mild cyanosis, poor perfusion
2. Chronic blood loss
Pallor
3. Hemolysis (chronic)
Pallor, jaundice, hepatosplenomegaly
Respiratory Distress
28
171
Respiratory distress is a major cause for significant

mortality and morbidity. It occurs in 4-6% of newborns.
Many of these are preventable. An infant is said to be
in respiratory distress if he has
Respiratory rate >60 breath/min
Subcostal and intercostal retractions (Fig. 28.1)
Expiratory grunt
Use of accessory muscles (nasal flaring)
Respiratory distress can be of pulmonary or
nonpulmonary in origin. Common conditions causing
respiratory distress are listed in Table 28.1.
Table 28.1: Causes of respiratory distress in neonates
Pulmonary disorders:
Respiratory distress syndrome (RDS)
Transient tachypnea of the newborn (TTNB)
Meconium aspiration syndrome (MAS)
Pneumonia
Air leak syndromes
Pulmonary hypoplasia
Systemic disorders:
Hypothermia
Metabolic acidosis
Anemia/polycythemia
Hypoglycemia
Pulmonary hypertension
Congenital heart disease
Anatomic problems compromising respiratory system:
Upper airway obstruction
Airway malformations
Space occupying lesions
Ribcage anomalies
Phrenic nerve palsy
Neuromuscular disease
From: Martin RJ, Sosenko I, Bancalari E. In Klaus MH, Fanaroff
AA (eds). Care of the High-risk Neonate. 5th edn W.B.
Saunders Company 2001.
Fig. 28.1: Respiratory distress
From clinical point of view respiratory distress can

also be classified as medical and surgical. Which are listed
below.
Medical

Transient tachypnea of the newborn
Pneumonia, acidosis, asphyxia
Hypothermia, anemia/polycythemia
Hypoglycemia, congenital heart disease
Surgical
Pneumothorax and other air leaks

Tracheoesophageal fistula
Diaphragmatic hernia (Fig. 28.6)
Rib cage anomalies
172
The conditions causing respiratory distress differ in

preterm and term babies as well though overlapping
can occur. Some of the conditions which are common
in each category of babies are listed below.
Preterms
Terms
RDS
Pneumonia
Asphyxia
TTNB
MAS
Pneumonia
TTNB
Malformations
Acidosis
Others
Assessment of respiratory distress: Respiratory distress

in the newborn period is usually assessed by a Downes
scoring system which is given below.
Score
Respiratory rate/min < 60

Cyanosis
None
Retractions
Grunting
Air entry
None
None
Good
60-80
None with
40% FiO2
Mild
Minimal
Decreased
>80
Needs > 40%
FiO2
Severe
Obvious
Very poor
Fig. 28.2b: HMD. Note air bronchogram
Score >6 indicates severe distress
Hyaline Membrane Disease or Respiratory

Distress Syndrome (Figs 28.2a to d)
Insufficiency of pulmonary surfactant system results in
hyaline membrane disease also referred to as respiratory distress syndrome. Prematurity is the commonest
predisposing factor. Other factors are given in
Fig. 28.2c: HMD. White out
Fig. 28.2a: Hyaline membrane disease. Note diffuse

reticulo-granular pattern with air bronchogram
Fig. 28.2d: HMD histology. Note alveoli surrounded

by poink membrane
Flow chart 28.1: Pathophysiology of HMD
173
Table 28.3: Clinical features of RDS
Onset within 4 hrs of birth

Respiratory rate>60 breath/min
Recessions with use of accessory muscles of respiration
Expiratory grunt
Cyanosis (may or may not be present)
Fine respiratory crepitation
Peripheral edema
Pulmonary edema
Chest X-ray; reticulogranular pattern, air bronchogram
White out appearance
Meconium Aspiration Syndrome (MAS)

(Figs 28.3a to c and Flow chart 28.2)
Acute or chronic hypoxia of fetus may result in the
passage of meconium in utero. Aspiration of this
material before or during birth may result in MAS. The
pathophysiology is depicted in the flow chart.
From: Martin RJ, Sosenko I, Bancalari E.
In Klaus MH, Fanaroff AA (Eds). Care of the High Risk Neonate, 5th
edn, WB. Saunders Company 2001.
Table 28.2. Clinical features and evaluation of RDS are

listed below (Tables 28.3 and 28.4) followed by Flow
chart 28.1 depicting pathophysiology.
Clinical Features
Infants at risk; Term, post-term and SGA babies.

Meconium stained amniotic fluid
Staining of cord and nails on examination
Distress develops after establishment of respiration
Emphysematous chest
Table 28.2: Predisposing and protective factors for RDS
Radiologic Features
Predisposing
Prematurity
Protective
Cesarean section
Asphyxia
Maternal diabetes
PROM
IUGR
Steroid
TRH
Hyperinflation
Patchy atelectasis
Air leaks:
Pulmonary interstitial emphysema
Pneumothorax (Fig. 28.3d)
Table 28.4: Clinical evaluation of respiratory distress in newborn
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
Relevant maternal history
Risk in the baby
Fever in third trimester, PROM, infection

Hydramnios
Oligohydramnios
Post-term, meconium-stained liquor
Toxemia
Diabetes
Sedation during labor
Reserpine to mother
Preterm delivery
Forceful resuscitation
Pneumonia
Tracheo-esophageal fistula
MAS, TTNB
Polycythemia, asphyxia
HMD, polycythemia, CHD, hypoglycemia
TTNB
Nasal stuffiness
HMD
Pneumothorax
174
Fig. 28.3a: Meconium aspiration

syndrome. Air leak syndrome
pneumoperitoneum
Fig. 28.3d: Pneumothorax
Fig. 28.3b: Meconium aspiration

syndrome. Note pachy atelectasis
and hyperinflation
Fig. 28.3e: MAS with pneumopericardium
Pneumomediastinum
Pneumopericardium (Figs 28.3e and f)
Pneumoperitonium
Subcutaneous emphysema
Transient Tachypnea of the Newborn

(Fig. 28.4)
This is a self-limiting condition mainly affecting term
Fig. 28.3c: Meconium aspiration

syndrome
Fig. 28.3f: MAS with pneumopericardium
infants following in uneventful delivery. Infants born by

elective cesarean section and infants of diabetic mothers
are at increased risk. The condition is thought to be due
to delayed clearance of lung fluid resulting in decreased
lung compliance the presentation includes tachypnea,
retractions and nasal flaring. These infants rarely
required more than 40% oxygen to remain pink. Xray shows hyperinflation, perihilar streaking, fluid in
175
Flow Chart 28.2: MAS
Fig. 28.5: Congenital pneumonia with mild-pneumothorax
interlobar fissure and mild-cardiomegaly. The condition

usually resolves in 2-5 days.
Congenital Pneumonia (Fig. 28.5)
Pneumonias in the neonatal period can be acquired
from mother, nosocomial or due to aspiration. They
are listed below.
1. Acquired from the mother
Congenital:
Transplacental pneumonia
Postamnionitis pneumonia
Transnatal (during delivery) (Fig. 28.6)
Fig. 28.6: Congenital diaphragmatic herniaa common

surgical condition causing respiratory distress immediately
after birth
Fig. 28.4: TTNB. Note hyperlucence. Other features include

perihilar streaking fluid in fissures and mild-cardiomegaly
2. Nosocomial pneumonia
3. Aspiration pneumonia
Diffuse involvement on X-ray is suggestive of
congenital pneumonia. Where as bronchopneumonic
pattern is suggestive of transnatally-acquired infections.
Aspiration pneumonias as in esophageal artesia usually
involve right upper, lower lobes of lungs.
176
29
Congenital Heart Diseases
Congenital heart diseases are found in 8 to 12

newborns per 1000 births. However, most of them are
detected in the postneonatal life for various reasons.
The classic presentation of heart dysfunction may not
be seen in the neonatal period. Thus it is very
important to have high degree of suspicion to pick
them up early.
Neonatal Presentation of Congenital Heart
Disease
Central cyanosis (Fig. 29.1a)
Signs of heart failure (distress, failure to gain weight,
feeding difficulties, diaphoresis, hepatomegaly,
periorbital edema, low BP)
Arrhythmias
Asymptomatic heart murmur
Shock
X-ray evidence of cardiomegaly
Abnormal ECG
Incidental detection.
Fig. 29.1a: Central cyanosis
Cyanosis
Cyanosis is the external manifestation of presence of
excessive deoxygenated hemoglobin, which is clinically
detected by blue mucous membranes, nailbeds and
skin. It becomes clinically apparent when the absolute
concentration of deoxygenated hemoglobin exceeds
5 g/dl. Cyanosis due to hypoxemia i.e. central cyanosis
(Fig. 29.1a) should not be confused with acrocyanosis
(Fig. 29.1b), which is blueness of the extremities and
perioral region. This is caused by peripheral
Fig. 29.1b: Acrocyanosis

vasoconstriction and is a normal finding in the first 48
hours of life. Apart from cardiovascular disorders,
cyanosis can be caused by variety of conditions. These
are listed below (Table 29.1).
Table 29.1: Causes of cyanosis in the newborn
Cardiovascular
Pulmonary
Neurologic
Hematologic
Ductal dependent mixing lesions, e.g.

truncus arteriosus.
Lesions with ductal dependent pulmonary blood flow, e.g. TOF, Ebsteins
anomaly
Lesions with ductal dependent systemic
blood flow, e.g. hypoplastic left heart
syndrome, critical CoA
Primary lung disease, e.g. RDS,
pneumonia, etc.
Airway obstruction, e.g. choanal atresia,
macroglossia
Extrinsic compression of lungs, e.g.
pneumothorax, pleural effusion
Central nervous system dysfunctions, e.g.
hypoglycemia, postasphyxial, cerebral
dysfunction
Respiratory neuromuscular dysfunction,
e.g. phrenic nerve palsy, botulism
Methemoglobinemia
Polycythemia
Modified and adapted from: Marino BS, Bird GL, Wernovsky

G. Diagnosis and management of newborn infant with
suspected congenital heart disease. Clin Perinatol 2001, 28:
91-136.
Pulse Oximeter (Fig. 29.2)

It provides a simple, non-invasive, portable and inexpensive method of continuously monitoring oxygen
saturation, and heart rate. The probe of pulse-oximeter
177
consists of a light emitting diode (LED) and a detector.

The LEDs send pulses of light of two different wavelengths through tissue containing a peripheral artery.
The emitted light with two different wavelengths in
variable absorbed by reduced and oxygenated hemoglobins. Based on this difference, the proportion of
oxygenated hemoglobin is estimated and displayed.
Advantages
Non-invasive, provides continuous monitoring and not
affected by skin thickness.
Disadvantages
Not reliable in low perfusion states
Movement of the part interferes with the value.
Less accurate below the saturation of less than 80%.
Abnormal Chest X-ray
Abnormal heart size (Fig. 29.3a): Unlike in older
children, cardiomegaly is not a reliable indicator of heart
disease in newborns. The normal cardiothoracic ratio
is usually more than 0.5 and is influenced by many
variables. Some of the conditions associated with
unequivocal cardiomegaly are listed in Table 29.2.
Table 29.2: Common causes of cardiomegaly
Congenital heart defects

VSD
PDA
TGA
HLHS
Ebsteins anomaly
Cardiomyopathy or myocarditis
Pericardial effusion
Metabolic disturbances
Hypoglycemia
Hypoxemia
Acidosis
Over-hydration
VSDventricular septal defect; PDApatent ductus

arteriosus; TGAtransposition of great arterior, HLHS
hypoplastic left heart syndrome
Abnormal Heart Shapes (Fig. 29.3b)

Fig. 29.2: Pulseoximeter
Some classic abnormal shapes may help in identifying

specific defects. They are:
178
Fig. 29.3a: Abnormal shapes of heart. Abnormal cardiac

silhouette. (A) Boot-shaped heart seen in cyanotic TOF or
Tricuspid atresia. (B) Egg-shaped heart seen in TGA.
(C) Snowman sign seen in TAPVR
Fig. 29.3d: Globular heart in Ebsteins anomaly
Fig. 29.3b: TOF. Note narrow base, upturned apex and

pulmonary oligemia
Fig. 29.3e: TAPVR Snowman configuration. Note plethoric

lung fields, prominent RA
Boot-shapedtetralogy of Fallot, tricuspid atresia

(Fig. 29.3b)
Egg-shapedtransposition of great vessels (Fig.
29.3c)
GlobularEbsteins Anomaly (Fig. 29.3d)
Fig. 29.3c: Transposition of great vessels egg and
end appearance
Snowman configuration: Total anomalous pulmonary

venous connection (TAPVC) (Fig. 29.3e)
179
Table 29.2: Congenital heart disease and chromosomal abnormality

Chromosomal abnormality
Incidence of CHD (%)
Typical lesions
50
99
90
50
67
40
>50
35
20
40
25
>50
<50
14
-
VSD, CAVC
VSD, CAVC, DORV
VSD
VSD
ASD
TAPVR
VSD
COA, Bicuspid aortic valve
VSD
ASD
VSD
PDA
VSD
PDA
VSD
Trisomy 21
Trisomy 18
Trisomy 13
Trisomy 8
Trisomy 22
Trisomy 22 (partial)
Trisomy 9
45 x (Turner)
5 P (Cri du chat)
4 P (Wolf)
13 q
Partial trisomy 14 q
18 q
XXXXY
Triploidy
Modified and adapted from: Copel JA, et al. Congenital heart disease and extra cardiac anomalies:
Associations and indications for fetal echocardiography. Am J Obstet Gynecol 1986; 154: 11211132
VSDventricular septal defect; CAVCcomplete atrioventricular canal; DORVdouble outlet right
ventricle; ASDatrial septal defect; TAPVRtotal anomalous pulmonary venous return; COA
coarctation of aorta
Flow chart 29.1: Differentiation of cardiac and
noncardiac cyanosis
Congenital Heart Disease and Chromosomal

Abnormalities
Various chromosomal abnormalities are known to be
associated with different types of CHD. Infact, in some
of these, they are responsible for significant morbidity
and mortality. Table 29.2 and 29.3 give some more
information. Flow chart 29.1 reflects prenatal diagnostic
method to confirm CHD of cardiac and non-cardiac
origins.
Congenital heart disease and systemic malformation various systemic malformations have been
associated with congenital heart diseases. Identifying
them should make one suspect the presence of associated CHD. The following table gives useful information
(Table 29.4).
Syndromes Associated with Congenital
Heart Disease (Table 29.5)
Certain syndromes are associated with congenital heart
diseases in fact as said above; in most of the cases they
are responsible for morbidity and mortality. A list of
commonly associated syndromes is given below. One
such example is shown in the Figure 29.4.
Myocardial Disorders
That present in the neonatal period include myocarditis,
transient myocardial ischemia, endocardial fibroelastosis,
Pompes disease and anomalous origin of the left
coronary artery from pulmonary artery.
180
Table 29.3: Recurrence risks after an isolated defect
Congenital heart defect
Population incidence
10,000
Sibs
Recurrence % Offspring
Ventricular septal defect

Persistent ductus arteriosus
Pulmonary stenosis
Atrial septal defect
Transposition of great vessels
Aortic stenosis
Coarctation of aorta
Tetralogy of Fallot
AV defect (other than with trisomy 21)
Truncus arteriosus
Ebsteins anomaly
Hypoplastic left heart
Tricuspid atresia
Primary endocardial fibroelastosis
Pulmonary atresia
21
7
5.5
5
4
3.5
3.5
3
4
1.5
1.2
2
1.5
1.7
2
3
2.3
2.2
1.4
1.7
3.1
1.5
2
1.7-8 (?3)
1
1
1
1
5
1
1.9-3
2.5
3
2.3
?
3.9
2.7
4
5-10
Table 29.4: Congenital heart disease and systemic malformation

System
Abnormality
% of associated CHD
CNS
Hydrocephalus
Dandy-Walker malformation
Agenesis of corpus callosum
Neural tube defects
Microcephaly
Holoprosencephaly
5-15
2-4
15
14
-
GIT
Tracheoesophageal fistula (TEF)

Esophageal atresia with TEF
Duodenal atresia
Jejunal atresia
Anorectal anomalies
Imperforate anus
Omphalocele
Gastroschisis
Diaphragmatic hernia
34
15-40
17
5
22
12
20-32
8
10-22
Genitourinary
Bilateral renal agenesis

Unilateral renal agenesis
Horse shoe kidney
Renal dysplasia
Ureteral obstruction
43
17
39
5
2
Modified and adapted from:

Copel JA, et al. Congenital heart disease and extracardiac anomalies: Associations and indications for fetal echocardiography.
Am J Obstet Gynecol 1986; 154: 1121-1132
Final step is to evaluate features of various syndromes associated with cardiac lesions

Table 29.5: Syndromes associated with congenital heart disease
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
Syndromes
Features
21 Trisomy (Down syndrome)

Fragile X syndrome
18 Trisomy
13 Trisomy
Noonans syndrome
Turners syndrome
Marfans syndrome
Holt-Oram
Rubinstein Taybi
William syndrome
Congenital rubella
Foetal hydantoin syndrome
Foetal alcohol syndrome
Kawasaki disease
Vater association
Leopard (lentiginosis)
Friedreichs ataxia
Endocardial cushion defect, VSD, TOF and PDA

MVP, aortic root dilatation
VSD, ASD, PDA
VSD, ASD, PDA
Pulmonary valves stenosis, obstruction cardiomyopathy
Coarctation of the aorta, AS, VSD
MVP, MR, aortic root dilatation, aortic dissection
ASD, VSD, first degree heart block
PDA, VSD
Supraventricular aortic stenosis peripheral pulmonic stenosis
PDA, peripheral pulmonary stenosis
Pulmonary and aortic stenosis, coarctation of aorta, PDA
ASD, VSD
Coronary artery aneurysms, MR, arrhythmias, myocardial infarction
VSD, TOF, ASD, PDA
Pulmonic stenosis, hypertrophic cardiomyopathy, myxomas
Cardiomyopathy, dysarrhythmias
Fig. 29.4: ASD in Ellis-van Creveld syndrome
181
182
30
Twins are always viewed with interest and sometimes
in the past with superstition. Some such superstitions
are given below.
Twins were believed to have magical power over
nature.
In South-East Asian countries, the mother of twins
was considered impure.
Some Indian tribes believed that twins were derived
from fish and hence were not allowed to go near
water.
In some African and South American countries, a
woman consuming two bananas growing from a
single head or double grain of millet was believed
to give birth to twins.
Siamese Twins
Chang (meaning left) and Eng (meaning right) were
born as conjoined twins in Siam (now Thailand). They
learnt to stand at 12 years and were taken to USA at
17 years. Chang and Eng married two sisters. Chang
had ten children and Eng had nine. Both died at the
age of 63 within a few hours of each other.
Twins
the incidence has been revised to one in hundred

instead of one in eighty. Fertility drugs tend to increase
the incidence. Incidence varies among different human
races. Thirty percent of twins are monozygotic,
remaining 70% dizygotic.
Problems Associated with Twins
Increased incidence of congenital malformations
Perinatal mortality is four times higher than
singletons.
Prematurity (40-55%)
Low birth weight (50-60%)
Intrauterine growth retardation
Twin to twin transfusion syndrome
Hyaline membrane disease
Retinopathy of prematurity
Necrotizing enterocolitis.
Causes of Twin Perinatal Loss
Prematurity, IUGR.
Incidence of Twins
Structural defects: In monochorionic twins: Twin-to-twin

transfusion (TTS), twin reversed arterial perfusion
(TRAP).
Incidence of multiple gestation is given below:

Twins1 in 80 live births
Triplets1 in 802 live births
Quadruplets1 in 803 live births
However, in western world secular trend with
declining incidence of twinning has been observed, and
In monochorionic and monoamniotic twins: Cord

knots, locking of twins at delivery may occur in
monozygotic twins: TTS, TES, TRAP, conjoined twins,
NTD, holoprocencephaly, VACTERL, congenital hip
dislocation, cloacal exstrophy, sirenomelia and gonadal
dysgenesis.
Twins
183
Zygosity of Twinning (Figs 30.2a to c)

Monozygotic or identical twins are derived from single
fertilized ovum. They are of same sex and have identical
genome. Dizygotic or fraternal twins arise from
2 different ova fertilized by two different sperms. They
are like sibs when it comes to sex and sharing of genes.
MZ twinning occurs after fertilization.
1. If separation occurs at 2 cell stageit results in
dichorionic, diamniotic twins.
2. Separation occurring between 3-8 days after
fertilizationmonochorionic diamniotic twins.
Fig. 30.1a: Different positions of breastfeeding of twins
Fig. 30.2a: Mechanism of twinning
Fig. 30.1b: Breastfeeding. The twins simultaneously in

football holding position
Feeding of Twins (Figs 30.1a and b)

The easiest and quickest way to feed twins is put to
breast simultaneously, one on each breast. The position
usually advocated is to keep babies legs behind the
mother, support each head with a pillow and put to
breast. This position is like holding a football, hence also
called football position.
Fig. 30.2b: Monozygotic twins
184
Fig. 30.3a: Twin-to-twin transfusion syndrome. Note the

striking difference between weights
Fig. 30.2c: Dizygotic twins
3. Separation between 8-10 days result in monochorionic twins

4. Late separation results in conjoined twins
Zygosity is determined by: (1) sex of the twins
(2) study of a section of the dividing membranes at the
placental insertion, known as T-zone. (3) Blood group
studies (4) DNA finger printing, which is highly reliable.
There are some anomalies peculiar to twins viz TRAP
sequence, conjoined twins, twin-to-twin transfusion.
Some anomalies occur more often in twins, which
include hydrocephalus, CHD, single umbilical artery,
and neural tube defects. Mechanical factors in twins
produce talipes, skull asymmetry and congenital
dislocation of hip often.
Twin-to-twin Transfusion Syndrome
(Figs 30.3a and b)
This commonly occurs in monozygotic twins when
vascular anastomosis develops between two placentas.
The anastomosis may be from artery-to-artery (most
common), from vein-to-vein, or from artery-to-vein.
The last type is more dangerous. The adverse effect
depends on the duration also.
Clinically suspect twin-to-twin transfusion if one twin
is plethoric and other pale
Diagnosis is made if hemoglobin difference is more
than 5 g/dl
Suspect acute form if birth weight difference is less
than 300 g.
Suspect chronic form if birth weight difference is
more than 300 g.
Fig. 30.3b: Twin-to-twin transfusion syndrome. Note the

striking difference between weights
But recently the definition has been changed based

on antenatal sonographic criteria and is defined as the
combined presence of polyhydramnios in one sac and
oligohydramnios in the other sac in a monochorionic
diamniotic pregnancy. Polyhydramnios is defined as a
maximal vertical pocket (MVP) greater than 8 cm and
oligohydramnios is defined as an MVP less than 2 cm
(poly 8- oligo 2).
Twin Reversed Arterial Perfusion (TRAP)
Sequence (Figs 30.4a to c and 30.5a and b)
TRAP sequence is a specific anomaly of multiple
gestation characterized by: 1) vascular communication
between fetuses, 2)a total or partial absence of the
heart and 3)a spectrum of malformations and reduction
anomalies that may affect all tissue.
The perfused twin exhibits a wide range of
abnormalities, while the pump fetus is morphologically
normal. The Figures show the various types of TRAP
Twins
185
Fig. 30.4a: TRAP sequence
Fig. 30.5a: Acardiacus
Fig. 30.4b: TRAP-Twin reversed arterial perfusion

sequence
Fig. 30.5b: Acardiacus radiograph
Fig. 30.4c: Spectrum of TRAP. Note graded loss of normal

form with relative sparing of lower portion of body
sequences (Fig. 30.4a). They may include, absence of

cranial vault, holoprosencephaly, anencephaly, absent
facial features,anophthalmia, microphthalmia, cleft lip/
palate, absent or rudimentary limbs, absent thorax,
diaphragmatic defects, absent lung and heart,
esophageal atresia, short intestine, omphalocele,
gastroschisis, ascites, absent liver, gallbladder, pancreas,
extrophy of cloaca, edematous skin and single umbilical
artery etc. Fifty percent of them have chromosomal
186
Fig. 30.6c: conjoined twinsAsymmetric form
Fig. 30.6a: Different types of conjoined twins
Fig. 30.6b: Conjoined twinsThoracopagus type
Fig. 30.6d: Conjoined twinsAsymmetric form
Fig. 30.6e: Conjoined twinsAsymmetric form
Twins
187
Fig. 30.6h: Conjoined twinsAsymmetric
Fig. 30.6f: Conjoined twinsAsymmetric form (Parasitic)
Fig. 30.6i: Conjoined twinsIschiopagus type
abnormalities. Mortality for perfused twin is 100% and

50% for pump twin. Causes of death are intrauterine
heart failure and prematurity.
Conjoined Twins (Figs 30.6a to m)
Fig. 30.6g: Conjoined twinsAsymmetric form
When monozygotic twinning occurs later in the second

week after conception, incomplete division of the
embryos may occur, resulting in conjoined twins.
Conjoined twins are always monoamniotic and monochorionic.
188
Fig. 30.6l: Conjoined twins. Barium meal follow through

showing continuity of GIT
Fig. 30.6j: Infantogram of conjoined twins

of ischiopagus type
Fig. 30.6m: Conjoined twins in a bull
Incidence
1% of monozygotic twins
70% of affected pairs are females
Classification
Fig. 30.6k: Infantogram of conjoined twins
thoracopagus type
Conjoined twins are classified according to the parts of

the bodies which are joined or shared.
Twins
1. Thoracopagus including xiphopagusjoined at
chest
2. Omphalopagusanterior abdominal wall
3. Pygopagusat the buttocks
4. Ischiopagusat the ischium
5. Craniopagusat the head
6. Heteropagus or asymmetricalthis can be:
An externally-attached parasitic twin
An enclosed fetus in fetus
An internal teratoma
An acardia connected via the placenta.
Antenatal diagnosis is possible by ultrasonography. Most of these twins are still born. In live
borns, prognosis depends on the extent of
shared organs.
5. Acardiacus myelocephalus: Slight development of

one or more limbs.
The Vanishing Twin Syndrome
Studies have demonstrated that many of the early twin
gestations result in a loss of one of the gestations, and
are converted to singleton pregnancies. The lost product
of conception is reabsorbed partially or completely, and
this phenomenon has been termed the Vanishing twin
syndrome. If not for this phenomenon, the real
incidence of twinning would have been 2-4%.
Fetus Papyraceous (Figs 30.7a and b)
As said above, many twin pregnancies may result in
death of one fetus. The fate of dead fetus depends on
the time of death and length of intrauterine retention.
Acardia (Figs 30.4a, 30.4c, 30.5a and b)

This is seen in twin pregnancies. An acardius is a bizarre
and grossly malformed fetus with no heart, and
circulation is accomplished entirely by the co-twin. This
is similar to TRAP sequence.
This condition almost always occurs in
monochorionic twins. It is characterized by the absence
of heart in the affected fetus which depends on the cotwin for circulation. An acardius fetus looks bizarre and
grossly malformed (monstrous). It is attached to the
placenta by an umbilical cord usually containing one
artery and one vein.
Blood flows from the normal twin to the acardius
through a large artery-to-artery anastomosis. It
circulates through the acardius in reverse course and
returns to the pump twin via a large vein-to-vein
anastomosis. Acardiac fetuses differ greatly in their gross
appearance. Various forms have been recognized which
are listed below. The pump twin is at increased risk of
cardiovascular overload.
1. Acardiacus omphalus: Trunk and limbs are present,
head is absent.
2. Acardiacus acormus: Only head is developed.
3. Acardiacus amorphous: No external form, appears
as an irregular mass covered by skin.
4. Acardiacus anceps: Head is small and poorlydeveloped
189
Fig. 30.7a: Fetus papyraceous
Fig. 30.7b: Fetus papyraceous
190
If the death occurs in the first trimester, a flattened mass

of sclerotic placenta with a collapsed membranous sac
may be the only residue. Intrauterine death in the
second trimester results in fetus papyraceous which
appears as an amorphous necrotic mass due to
shrinkage and flattening against the membranes.
Death in the third trimester causes maceration of the
fetus.
BIBLIOGRAPHY
1. Bryan EM. The nature and nurture of twins. Bailliere
Tindall. Am J Obstet Gynecol 1973; 116: 358-365.
2. Kulkarni ML et al. Conjoined twins. Indian Pediatrics 1994,
31: 1017-1024.
3. Kulkarni ML et al. Hetrophagus conjoined twins: Pediatrics
Today 2003: VI, 259-267.
4. Spellacy WN. Antepartum complications in twin
pregnancies. Clin Perinatol 1988; 15: 79-86.
5. Quintero RA. Twin-Twin transfusion syndrome. Clin
Perinatol 2003; 30: 591-600.
Examination of Placenta
31
It is a common tendency of pediatricians to overlook

examination of placenta in the evaluation of a newborn
infant forgetting that it may reveal abnormalities that
are extremely helpful in the diagnosis of many neonatal
conditions.
IMPORTANCE OF PLACENTAL
EXAMINATION
Information of Medicolegal Value may be

Obtained
Causes of Fetal Death, Fetal Distress, and

Neonatal Morbidity may be Documented
Abruptio placentae
Placental infarction
Decidual vascular lesions
Umbilical and chorionic vascular lesions
Infections
Tumors and hamartomas
Amniotic disruption syndrome.
Unsuspected Disorders may be Disclosed
Maternal vascular disease

Abnormal maternal coagulative states
Fetal anomalies
Fetal anemia
Possible immune interactions, gravida fetus
Primary or metastatic neoplasms
Abnormalities of Uncertain, Unknown,

Dubious, or Controversial Significance may
be Recognized
Chronic villitis
Chronic deciduitis
191
Pigmented membrane macrophages

Increased syncytial knots
Increased fibrin deposits
Decidual necrosis
Villous edema.
Explanatory
Mitigating
Disputative.
Miscellaneous Fetal/Neonatal Disorders in
which Placental Study may be Informative
Congenital infection (chorioamnionitis, villitis, villous
edema)
Hematologic disorders
Hemolytic disease of newborn (increased weight,
villous edema, fetal erythroblastemia and
normoblastemia, intravillous hematopoiesis)
-thalassemia (increased weight, villous edema, fetal
erythroblastemia and normoblastemia, intravillous
hematopoiesis)
Congenital leukemia (fetal leukocytosis, intravillous
hematopoiesis)
Congenital nephrosis (increased weight, villous
edema)
Congenital neuroblastoma (villous intravascular
tumor cells)
Triploidy (partial hydatidiform mole)
192
Autosomal trisomy (decreased weight, single

umbilical artery, focal villous hydrops)
Storage diseases (deposits of abnormal substance in
villi).
The Indications for Placental Examination
Maternal
Diabetes mellitus
Pregnancy-induced hypertension
Premature rupture of membranes
Preterm delivery (before 36 weeks)
Post-term delivery ( 42 weeks)
Unexplained fever
Poor previous obstetrical history
History of drug abuse, including cocaine
Fetus/Newborn
Stillborn
Neonatal death
Multiple gestation
Prematurity
Intrauterine growth retardation
Erythroblastosis fetalis
Transfer to neonatal intensive care unit
Ominous fetal heart tracing
Presence of meconium
Apgar score below 5 at 1 minute or below 7 at 5
minutes.
Placental/Umbilical Cord
Infarcts
Abruptio placenta
Vasa praevia
Placenta previa
Abnormal calcification
Abnormal appearance of placenta or cord.
Normal Gross Features of Placenta

Shape: Round or oval discoid.
Size: Approximately 20 15 cm.
Thickness: 1.5 2.5 cm at the center thins off
toward periphery.
Fig. 31.1: Fetal surface
Weight: Correlates with birth weight and depends

on gestational age (Normal fetoplacental ratio is
1:4 at 24 weeks, gradually increases to 1:7 at
term)
Fetal surface (Fig. 31.1): Covered by smooth
glistening amnion, which can be peeled off from the
underlying adherent chorion except at the cord
insertion
Maternal surface (Fig. 31.2): Rough, spongy and
reddish-blue in color. It has 15-20 lobes or cotyledons.
Cord insertion: Cord is normally inserted near
center, sometimes eccentrically.
Abnormalities of Placental Weight
Feto-placental weight ratios have been established for
various gestational ages. At term the ratio is 1:7.
Conditions associated with abnormal placental weight
are listed below:
Small placentas
Chronic maternal infections.
Preeclampsia.
Fig. 31.3a: Accessory lobe
Fig. 31.2: Maternal surface
Large placentas
Severe maternal anemia.

Fetal anemia.
Syphilis
Large intervillus thrombi
Maternal diabetes
Congenital fetal nephrosis
Toxoplasmosis
Idiopathic fetal hydrops.
Fig. 31.3b: Circumvallate placenta
Abnormal Placentation (Figs 31.3a to d)

This group includes placenta previa, extrachorial
placenta, membranous placenta, and ring-shaped
placenta. These types of placentas may cause maternal
hemorrhage with secondary effects on the fetus. There
are some other conditions, which can cause
hemorrhage from the fetal vessels like lobar placenta,
multi-lobar placenta placentas with accessory lobes and
bipartite placenta (Fig. 3.3d). In these conditions, the
vessels, which traverse between lobes, do not contain
protective Whartons jelly and are prone to get ruptured
resulting in fetal anemia. The examination for presence
of these abnormalities gives clues to the etiology of
anemia in the newborn.
Fig. 31.3c: Succenturiate placenta
193
194
Fenestrated Placenta
In this abnormality the central portion of the placenta
is missing, and some times there may an hole in the
placenta. The clinical significance of this is that it may
be mistaken for missing lobe of placenta after its
extraction.
Marginal Insertion (Fig. 31.3e)
Here the cord is inserted at the placental margin, it is
sometimes referred to as a battledore placenta. It is
found in 7% of term placentas. The rare significance
of this is that sometimes cord may be pulled off from
the placenta.
Circumvallate Placenta (Fig. 31.3b)
Fig. 31.3d: Bipartite placenta
Here the membranes of chorion leave insert with a

typical folding at some inward distance from the margin
of the placenta, toward the cord this type of
placentation is associated with pre-natal bleeding and
premature labor.
Lesions Indicative of Vascular Insufficiency
Maternal utero-placetal insufficiency is known to be
associated with growth retardation, fetal hypoxia, and
perinatal death. Most evident indicators of this condition
on gross examination are retroplacental hematoma and
infarcts (Figs 31.4 and 31.5).
Fig. 31.3e: Battledore
Fig. 31.4: Retroplacental clot
195
Fig. 31.5: Placental infarct
Fresh infarcts appear as dark red, firm, granular

areas. Old ones appear white, and feel hard. Infarcts
are more significant when they are central and greater
than 3 cm in greatest dimension.
Retroplacental hematoma is the pathologic correlate
of clinical entity, abruptio placentae. This condition is
associated with fetal hypoxia resulting from placental
separation and preterm delivery. There is increased risk
of perinatal death. However, sometimes it is not possible
to say whether it is true retroplacental hematoma or
just physiologic retention of blood during 3rd stage of
labor. In such situations, correlation with maternal
history often helps to resolve the problem.
Fig. 31.6: Meconium stained membranes
Abnormalities of Placental Membranes

Chorioamnionitis: Acute chorioamnionitis may be
recognized on gross examination by opaque yellow
malodorous membranes.
Fig. 31.7: Amnion nodosum
Meconium stain (Fig. 31.6): Passage of meconium

in utero can be determined by observing greenish or
greenish-brown staining of membranes. The chronisity
of passage of meconium correlates with hues of staining.
Meconium passed shortly before delivery imparts bluishgreen color, whereas, with longer exposure, the
membranes look muddy brown.
to white, small nodules on the fetal surface measuring

0.05-0.5 cm and contain fetal epidermal cells and hair.
Their presence is indicative of urinary tract abnormalities
and pulmonary hypoplasia, which occurs in long
standing oligohydramnios (Potters sequence). Thus, a
newborn infant with unknown cause of respiratory
distress can be diagnosed if the physician appreciates
amnion nodosum.
Amnion nodosum (Fig. 31.7): This condition is

known to occur in long standing oligohydramnios,
which can be secondary to congenital urinary tract
abnormalities or amniotic fluid loss following prolonged
rupture of membranes. These lesions appear as yellow
Placenta in amniotic band syndrome (ABS) (Fig.

31.8): The term ABS refers to a spectrum of fetal
anomalies that result from mechanical effects of
amniotic bands or sheets on the developing embryo
or fetus. Any congenital anomaly, found in the newborn
196
Fig. 31.9: Single umbilical artery

Fig. 31.8: Amniotic membrane in limb body wall complex
or the abortus, which raises the suspicion of ABS,

should prompt the physician to look for any
abnormality in the membranes like bands of amnion
or amnion defect of the fetal surface. Such identification
helps in counseling parents about non-recurrence
nature of the condition. Further details are given in
chapter 33.
Cord Abnormalities
Single umbilical artery (Fig. 31.9): Normally
umbilical cord contains 3 vessels; two arteries and one
vein surrounded by Whartons jelly. Single umbilical
artery (SUA) occurs in 1% of deliveries and it may be
due to agenesis or atresia or due to persistence of
original single allantoid artery of the body stalk. Infants
with SUA have higher prevalence of congenital
anomalies, prematurity, and higher perinatal deaths.
Congenital anomalies occur in nearly 30%, and include
CVS, CNS, genitourinary and digital anomalies. SUA
may also be associated with marginal and velamentous
insertion of the umbilical cord.
Fig. 31.10a: Long cord
Ref: Perspectives in Pediatric Pathology 1984; 8: 345.
Umbilical cord length abnormalities (Figs

31.10a and b): At term the mean length of umbilical
cord is 55 cm. A cord is termed short when the length
is less than 35 cm and long, when it is more than 80
cms. A long cord increases the risk of true knots, cord
compression from fetal entanglement, nuchal cord (Fig.
31.10c), and cord prolapse. A short cord can cause
Fig. 31.10b: Cord round the neck
197
Fig. 31.11a: True knot
Fig. 31.10c: Cord round the neck
cord rupture and delay in the 2nd stage of labor. Rarely

cord may totally be absent. Care should be taken to
measure all segments of cord, before drawing any
conclusion.
Hematoma of the umbilical cord: Results from
extravasation of blood into Whartons jelly. Trauma and
prenatal invasive techniques like cordocentesis, fetoscopy
may be responsible in some cases. Umbilical vein is
involved in most cases. The common site is near the
fetal insertion end. Complications include exsanguination in to amniotic fluid. Perinatal mortality is very
high if there is significant hemorrhage.
True knots of the umbilical cord (Figs 31.11a
and b): True knots form when the fetus passes through
a loop of umbilical cord. These occur specially in
monoamniotic twins, long cord, and polyhydramnios.
They can be single or multiple. They have associated
anomalies. False knots consist of dilatation of the
umbilical vessels and have no significance.
Ref.: Am J Obstet Gynecol 1977; 117: 425.
Fig. 31.11b: True knot
Velamentous insertion: (Fig. 31.12): This means

attachment of the cord to the membranes rather than
to the placental mass. Marginal insertion means
implantation of the cord into the edge of the placenta.
Infants with velamentous insertion or at increased risk
for IUGR, preterm birth and congenital anomalies.
Fig. 31.12: Different types of insertion of cord. From left

to rightNormal, Marginal, Furcate, Velamentous
198
Placentas of multiple gestation: Placentas of

multiple gestation offer special opportunities as well as
special problems. These are listed below. See also
chapter 30.
Important Points to Note in Placentas of
Multiple Gestations
Lesions may be present in only 1 fetus/infant
placentas or cords should be labeled to indicate
assignment to individual fetuses/infants.
Interactions with co-twins may be mediated or
expressed in the placenta(s)
Monozygosity is often diagnosable on placental
examination
Gross observations are key to the most important
information
Microscopy is confirmatory and for the record
Placental configuration, composition of septa, and

vascular communications should be recorded
consistently, diagrams and photographs are helpful.
Each report should include a statement regarding
zygosity.
Proforma for Examination of Placenta
(Table 31.1)
1.
2.
3.
4.
Patients identification
Date and time of delivery
Date and time of examination
Maternal information:
a. Diabetes mellitus
b. Hypertension
c. Bleeding (all trimesters)
d. Infection
e. Any other history or finding that is deemed
significant
Table 31.1: Overview of significance of placental examination

Abnormality
Incidence (%)
Significance
Abnormal placental shape

Extrachorial (complete, partial, combined)
Circummarginate
Circumvallate
5-20
0.5-2
None
Ab, IUGR, CA. Premature labor, fetal malformation
Membranous (diffuse)
Rare
AP and PP hemorrhage, Ab, premature labor,

IUGR, adherence
Annular (ring-shaped; girdle; collar)

Fenestrate
Accessory (succenturiate) lobe
Bilobate (bipartite; duplex)
Multilobate
Rare
Rare
5-8
0.04-4.2
Rare
AP and PP hemorrhage, IUGR

None
Fetal hemorrhage, retention
First trimester hemorrhage, adherence
Fetal hemorrhage
Abnormal placental invasiveness/adherence

Accreta, percreta, increta (total, partial, focal)
0.04
Retroplacental hematoma (abruptio placentae)

Abnormal placental location
Previa
AP and PP hemorrhage, uterine rupture, 10% fetal

and maternal mortality
4.5
AP hemorrhage, IUGR; includes 1/3 of cases of
clinical abruption; 1/3 will have clinical abruption
5-28
AP hemorrhage, abruption, IUGR, 10% perinatal
(second trimester) mortality
0.3-0.7
(live births)
Ababortion; APantepartum; CAchorioamnionitis; IUGRintrauterine growth retardation; PPpostpartum.
5.
6.
7.
8.
9.
f. Antenatal scanning report

Labor information
a. Peripartal fever, PROM
b. Type of delivery
c. Liquor: oligo, polyhydramnios, foul smelling,
meconium stained
Neonatal information
a. Apgar score
b. Gestational age and birth weight
c. Any neonatal abnormality
Placental weight and ratio of weight of placenta
and infant
Cord:
a. Length
b. Insertion
c. Number of vessels
d. Abnormality
Membranes and fetal surface
a. Color
b. Opacity
c. Insertion: Marginal
Circumvallate
Circummarginate
10.
11.
12.
13.
199
d. Amnion nodosum
e. Subamniotic hemorrhage
f. Subchronichematoma, cyst
g. Any other abnormality (specify)
Maternal surface
a. Color: pale, plethnic, normal
b. Infarction: site, percentage
c. Thrombus: fresh/old
Hemorrhage
Dimensions:
Lengthlargest diameter
Widthsmallest diameter
Thickness
Any other gross abnormality
BIBLIOGRAPHY
1. Benirschke K. Examination of the placenta. 1961; 18: 309.
2. College of American Pathologist Conference XIX on the
examination of placenta. Arch Pathol Lab Med 1991; 115:
660-721.
3. Lewis SH, Gilbert-Barness E. The placenta and its
significance in neonatal outcome. Advances in Pediatrics
Mosby Inc 1998;45:223-42.
4. Naeye RL. Umbilical cord length: Clinical significance. J
Pediatr 1985; 107: 278-81.
200
32
Congenital Malformations
A study of congenital malformations in infants and

stillborn babies is of paramount importance in reducing
the number of perinatal deaths. About 20% of deaths
in the last trimester of gestation and 15% of those in
the neonatal period are attributed to congenital
malformations. This chapter deals with some of the
commonly encountered congenital malformations and
abnormalities.
Terminology
Congenital malformation: An anatomical defect that is
present at birth is called as congenital malformation.
Major congenital malformation: When congenital
malformation has a major impact on health, function,
survival, and cosmetic aspects, it is called major
congenital malformation.
Minor congenital malformation: When congenital
malformation has no impact on health, function,
survival and cosmetic aspects, it is called minor
congenital malformation.
Malformation syndrome: When multiple anomalies,
which are pathogenetically-related, occur in a single
baby it is said to be a malformation syndrome.
Deformation: An abnormal form, shape, or position of
a part of the body caused by mechanical forces is called
a deformation, e.g: TEV (Talipes equinovarus),
oligohydramnios sequence, breech deformation, etc.
Disruption: If there is a morphologic defect of an

organ, part of an organ or region of body resulting
from an extrinsic breakdown or an interference
with an originally-normal developmental process, it is
called as disruption, e.g. radiation, amniotic bands,
infection.
Dysplasias: When a malformation results from an
abnormal organization of cells in tissues it is called
dysplasia, e.g. many chondrodysplasias.
Sequence: When a pattern of multiple anomalies is
derived from single known or presumed prior anomaly,
or mechanical factor, it is called as sequence, e.g.
Pierre-Robin sequence, Potter sequence.
Association: It is defined as non-random occurrence in
two or more individual of multiple anomalies not known
to be polytopic field defect sequence or syndrome, e.g.
VATER association (Vertebral anomaly, Anal atresia,
Tracheoesophageal fistula, Radial/renal dysplasia),
CHARGE (Coloboma, Heart defect, Atresia choana,
Retarded growth, Genital abnormality, Ear anomaly)
association.
Incidence
Three percent of newborn children have major
malformation. Commonly seen malformations, their
causes and other concerned factors are enlisted in Table
32.1 to 32.5.
Table 32.1: Birth defects monitored by the metropolitan Atlanta congenital defects program
and the birth defects monitoring program, 1991
CNS defects
Orofacial defects
Anencephaly
Spina bifida
Encephalocele
Hydrocephalus
Microcephaly
Anophthalmia and microphthalmia
Congenital cataract
Coloboma of the eye
Aniridia
Cardiovascular defects
Tetralogy of Fallot
Atrial septal defect
Endocardial cushion defect
Pulmonary valve stenosis and atresia
Tricuspid valve stenosis and atresia
Aortic valve stenosis
Hypoplastic left heart syndrome
Patent ductus arteriosus
Coarctation of the aorta
Pulmonary artery stenosis
Lung agenesis and hypoplasia
Cleft palate
Total cleft lip
Gastrointestinal defects
Tracheoesophageal anomalies
Rectal and intestinal atresia eye defects
Genitourinary defects
Renal agenesis and dysgenesis
Bladder exstrophy
Musculoskeletal defects
Transposition of the great vessels
Limb reduction defects
Arthrogryposis
Omphalocele
Gastroschisis
Chromosomal defects
Down syndrome
Trisomy 13
Trisomy 18
Table 32.2: Examples of common minor malformations

Skull
Parietal foramina
Parietal bossing
Prominent forehead
Ears
Preauricular pits
Preauricular tags
Anomalies of auricular cartilage
Eyes
Heterochromia of the iris
Coloboma of the iris
Nose
Short columella
Bulbousnasal tip
Perioral zone
Smooth philtrum
Narrow vermilion
Angular lip pits
Mouth
Palatal pits
Torus palatinus
Hypoplastic lateral incisors
Short lingual frenulum
Neck
Branchial arch remnants
Chest
Supernumerary nipples
Abdomen
Single umbilical artery
Umbilical hernia
Genitalia
Labial adhesions
Hydrocele
Mild hypospadias
Undescended testis
Anus and perineum
Anal tags
Anal stenosis
Back
Sacral dimples
Skin
Isolated pigmented nevi
Small vascular nevi
Skin dimples overlying bony prominences
Hair
Upswept posterior hairline
Supernumerary scalp hair whorl
White forelock
Nails
Spooned nail
Nail grooves
Infantile bowleg
Camptodactyly of fifth fingers
Hands
Clinodactyly of fifth fingers
Potters thumb
Feet
Syndactyly of second and third toes
Short fourth metatarsal.
201
202
Table 32.3: Causes of congenital malformations
Twinning
Conjoined twins, intestinal atresia, porencephaly
Monogenic (7.5% of Serious Anomalies)

Achondroplasia
Ectodermal dysplasia
Apert disease
Treacher Collins syndrome
Chromosomal (6% of Serious Anomalies)
Trisomies 21, 18, 13
XO, XXY
Deletions 4p, 5p, 7q,13q, 18q, 22q
Prader-Willi syndrome (50% have deletion of chromosome
15)
Maternal Illness (2% of Serious Anomalies)
Intrauterine infections (e.g., herpes simplex, CMV, varicellazoster, rubella, and toxoplasmosis)
Maternal Illness (3.5% of Serious Anomalies)
Diabetes mellitus
Phenylketonuria
Hyperthermia
Uterine Environment (% Unknown)
Deformation
Uterine pressure, oligohydramnios, clubfoot, torticollis,
congenital hip dislocation, pulmonary hypoplasia, 7th nerve
palsy
Disruption
Amniotic bands, congenital amputations, gastroschisis,
porencephaly, intestinal atresia
Environmental agents (% Unknown)

Polychlorinated biphenyls
Herbicides
Mercury
Alcohol
Medications (% Unknown)
Thalidomide
Diethylstilbestrol
Phenytoin
Warfarin
Cytotoxic drugs
Isotretinoin (vitamin A)
D-Penicillamine
Valproic acid
Unknown Etoplogies
Polygenetic
Anencephaly/spina bifida
Cleft lip/palate
Pyloric stenosis
Sporadic Syndrome Complexes (Anomalads)
CHARGE syndrome
VATER syndrome
Pierre Robin syndrome
Prune-belly syndrome
Nutritional
Low folic acid-neural tube defects
Table 32.4: List of teratogens

Drug
Effect on fetus
Accutane (isotretinoin)
Alcohol
Facial ear anomalies, heart disease

Congenital cardiac, CNS, limb anomalies; IUGR; developmental delay; attention
deficits; autism
Abortion, malformations
Congenital heart disease, IUGR, withdrawal
Abortion
Stunted growth; corneal opacities; cleft palate; hypoplasia of ovaries, thyroid and
parathyroids
Spina bifida, possible neurodevelopment delay
Cerebral atrophy, microcephaly, seizures
Deafness
Probably no effect, possibly limb reduction
Low birth weight for gestational age
Microcephaly, LBW, IUGR, behavioral disturbances
Multiple malformations
Virilization
Masculinization of female fetus
Spina bifida
Ebsteins anomaly, macrosomia
Abortion
Minamata disease, microcephaly, deafness, blindness, mental retardation
Arthrogryposis, cranial neuropathies (Mobius syndrome), equino varus
Aminopterin
Amphetamines
Azathioprine
Busulfan (Myleran)
Carbamazepine
Carbon monoxide
Chloroquine
Chorionic villus sampling
Cigarette smoking
Cocaine/crack
Cyclophosphamide
Danazol
17-ethynyl testosterone (Progestoral)
Hyperthermia
Lithium
6-Mercaptopurine
Methyl mercury
Methyltestosterone
Misoprostol
Contd...
203
Contd...
Norethindrone
Penicillamine
Phenytoin
Polychlorinated biphenyls
Prednisone
Progesterone
Quinine
Stilbestrol (diethylstilbestrol [DES])
Streptomycin
Tetracycline
Thalidomide
Toluene (solvent abuse)
Trimethadione and paramethadione
Valproate
Vitamin D
Warfarin (Coumadin)

Cutis laxa syndrome
Congenital anomalies, IUGR, neuroblastoma, bleeding (vitamin K deficiency)
Skin discoloration thickening, desquamation, LBW, acne, developmental delay
Oral clefts
Abortion, thrombocytopenia, deafness
Vaginal adenocarcinoma in adolescence
Deafness
Retarded skeletal growth, pigmentation of teeth, hypoplasia of enamel, cataract, limb
malformations
Phocomelia, deafness, other malformations
Craniofacial abnormalities, prematurity, withdrawal syndromes, hypertonia
Abortion, multiple malformations, mental retardation
Spina bifida, impaired neurologic function
Supravalvular aortic stenosis, hypercalcemia
Fetal bleeding and death, hypoplastic nasal structures
CNS central nervous system; IUGR- intrauterine growth restriction; LBWlow birth weight
Adapted from: Stoll BJ, Kliegman RN. In Behrman RE, Kliegman RM, Jenson HB (Eds): Nelson Textbook of Pediatrics 17th edition, W.B.
Saunders Company: Philadelphia.
Table 32.5: Definitions of common clinical signs

Brachycephaly
Brachydactyly
Brushifield spots
Camptodactyly
Clinodactyly
Hypoplastic nail
Low-set ears
Melia
Ocular hypertelorism
Plagiocephaly
Posterior parietal
hair whorl
Preaxial polydactyly
Postaxial polydactyly
Prominent lateral
palatine ridges
Scaphocephaly
Shawl scrotum
Short palpebral fissures
Syndactyly
Synophrys
Telecanthus
Widows peak
A condition in which head shape is shortened from front to back along the sagittal plane; the skull
is rounder than normal
A condition of having short digits
Speckled white rings about two thirds of the distance to the periphery of the iris of the eye
Permanent flexion of one or more fingers associated with missing inner phalangeal creases indicating
lack of finger movement from before 8 wk gestation
A medical or lateral curving of the fingers and usually refers to incurving of the 5th finger
An unusually small nail on a digit
This designation is made when the helix meets the cranium at a level below a horizontal plane that
is an extension of a line through both inner canthi
A suffix meaning limb (e.g. Amelia-missing limb; brachymelia-short limb)
Increased distance between the pupils of the two eyes
A condition in which head shape is asymmetric in the sagittal or coronal planes; can result from
asymmetry in suture closure or from asymmetry of brain growth
A single whorl occurs to the right or left of midline and within 2 cm anterior to the posterior fontanel
in 95% of cases. The whorl represents the focal point from which the posterior scalp skin was under
growth tension during brain growth between the 10th and 16th wk of fetal development. Aberrant
position of the whorl reflects an early defect in brain development
Extra finger or toe present on the medial side of the hand or foot
Extra finger or toe present on the lateral side of the hand or foot
Relative overgrowth of the lateral palatine ridges secondary to a deficit of tongue thrust into the hard
palate
A condition in which the head is elongated from front to back in the sagittal plane; most normal skulls
are scaphocephalic
The scrotal skin joins around the superior aspect of the penis and represents a mild deficit in full
migration of the labila-scrotal folds
Decreased horizontal distance of the eye based on measurement from the inner to the outer canthus
Incomplete separation of the fingers. It most commonly occurs between the 3rd and 4th fingers and
between the 2nd and 3rd toes
Eyebrows that meet in the midline
Lateral displacement of the inner canthi. The inner canthal distance is increased, but the inner papillary
distance is normal
V-shaped midline, downward projection of the scalp hair in the frontal region. It represents an upper
forehead intersection of the bilateral fields of periocular hair growth suppression. It usually occurs
because of the fields are widely spaced, as in ocular hypertelorism.
Adapted from: Stoll BJ, Kliegman RN. In Behrman RE, Kliegman RM, Jenson HB (Eds): Nelson Textbook of Pediatrics 17th edition, W.B.
Saunders Company: Philadelphia.
204
CNS MALFORMATIONS
Overview of Brain Development
Among congenital malformations, anomalies of CNS
rank the most frequent and the most tragic of all which
afflict man.Accurate diagnosis is important in the
prevention of CNS malformations through genetic
counselling and prenatal diagnosis. Also several
correctable defects can be repaired.
The formation of central nervous system begins in
embryonic stage and continues throughout gestation.
Any disruptive factor occurring at any time during
pregnancy is capable of disturbing the process. The first,
and to a lesser extent, second trimesters are more
vulnerable periods. For simplicity cerebral development
can broadly be divided into two periods: external
cerebral formation and internal cerebral formation.
External cerebral formation occurs in first 6 weeks of
life and its disruption results in gross and easily
observable malformation. Internal cerebral formation,
takes place after first 6 weeks, and its disruption usually
causes subtle but equally important dysgenesis.
External Cerebral Formation
This takes place in two phases: Dorsal and ventral
induction. Dorsal induction begins with the formation
of the neural plate and ends with closure of the posterior
neuropore. Ventral induction results in differentiation
and cleavage of forebrain to form face and cerebral
hemispheres. The anatomical malformations produced
during external cerebral formation are given in Table
32.6.
Internal Cerebral Formation

This phase begins after 6 weeks post-conception age
and continues upto about 20 years of age. It involves
four processes: neuronal proliferation, neuronal
migration, neuronal organization, and neuronal
myelination. The abnormalities produced during this
phase are given in Table 32.7.
Proliferation: This occurs during 2-4 months of postconception age. In this process, proliferation of
neuroblasts, glia, and vasculature takes place in the
periventricular zone. These cells form the future
neocortex.
Migration: The peak timing of migration is 3 to 5
months post-conception. In this phase migration of
neuroblasts from the periventricular area to the
surface takes place with the help of radial fibres of the
glial cells.
Organization: In this phase, the neuroblasts on the
surface which arrive from the periventricular area, get
organized. This process involves proliferation of
dendrites and axons, formation of synapses, and
selective neuronal death. Glial cells differentiate into
oligodendrocytes and astrocytes. This phase begins
around 6 months of post-conception and continues up
to several years postnatally.
Myelination: This phase begins around 6 months of
gestation and continues up to 20 years postnatally.
Myelination in the CNS is done by oligodendrocytes
and peripherally by Schawann cells.
Table 32.6: External cerebral formation

Timing (postconception)
Embryonal derangement
Disorders
Dorsal induction (3-4 weeks)
Neural tube formation
Craniorhachischisis totalis Exposed rudimentary brain

and spinal cord.
Anencephaly
Exposed rudimentary brain.
Encephalocele
Occipital or frontal sac with
brain.
Myeloschisis or
Exposed rudimentary spinal
myelomeningocele
cord with variable spinal cord
exposure
Anterior neuropore closure

Posterior neuropore closure
Ventral induction (3-6 weeks)
Interaction between
mesoderm and forebrain
Holoprosencephalies
Anatomical abnormality
Single cerebral hemisphere

with microcephaly.
205
Table 32.7: Internal cerebral formation after 6 weeks

Timing
Postconception
Embryonal derangement
Disorder
Anatomical abnormality
Proliferation
(2-4 months)
Neuronal and glial

Proliferation in the
periventricular zone
Microcephaly vera
Well formed but small brain
Macrocephaly
Well formed but large brain
Migration
(3-5 months)
Disordered migration from the

periventricular zone to grey
matter and corpus callosum
Schizencephaly
Clefts in the lateral cerebral wall
Lissencephaly
Pachygyria
Polymicrogyria
Heterotopias
Smooth cerebrum with 3 layer cortex

Few and broad gyri
Multiple small gyri
Neuronal islands in the white matter
Organization
(6 months to
several years)
Dendritic, synaptic and axonal

arborization selective neuronal
death and glial differentiation
Mental retardation
seizure,
Down syndrome
Poor dendritic and synaptic formation
Myelination
(6 months-20 yrs)
Oligodendroglia proliferation
De/Dys myelination
syndromes
Lysosomal disorders
Peroxisomal disorders,
storage disorders,
Canavan and
Alexander disorder
White matter hypoplasia
From: Schaefer GB, Sheth RD, Bodensteiner JB. Cerebral dysgenesis: An overview. Neurologic Clinics. 1994: 12 (4); 773-788.
Neural Tube Defects (NTD)

These are midline defects of the vertebrae resulting in
exposure of the contents of the neural canal. NTDs are
the most common malformation of CNS and the
incidence varies widely in different parts of the world.
By the end of the fourth week, i.e. in dorsal
induction phase(see above), CNS forms a closed
tubular structure detached from the overlying
ectoderm. Occasionally however the neural groove fails
to close, either because of faulty induction by the
underlying mesodermal structure or because of the
action of environmental teratogenic factors on the
neuroepithelial cells. The neural tissue then remains
exposed to the surface. Such a defect may extend the
total length of the embryo or may be restricted to small
area only (complete or parital rechischisis). When
located in the region of spinal cord it is called spina
bifida, while a failure of closure in cephalic region is
known as anencephalus. Different types of neural tube
defects are listed in Table 32.8.
The etiology is multifcatorial and most are inherited

with a multifactorial pattern. Recognised cause of NTD
are given below:
Multifactorial inheritanceanencephaly, meningomyelocele, meningocele, and encephalocele.
Single mutant genes
Meckel syndromeautosomal recessive (phenotype includes occipital encephalocele and rarely
anencephaly)
Mediancleft face syndromepossible autosomal dominant (phenotype includes anterior
encephalocele)
Robert syndromeautosomal recessive (phenotype includes anterior encephalocele)
Syndrome of anterior sacral meningomyelocele
and anal stenosis, either autosomal or X-linked.
Jarcho-Levin syndromeautosomal recessive
(phenotype includes meningomylocele)
HARDE syndromeautosomal recessive (phenotype includes encephalocele)
206
Chromosome abnormalities
13 trisomy
18 trisomy
Triploidy
Other abnormalities, such as unbalanced
translocation and ring chromosome.
Probably hereditary, but mode of transmission not
established
Syndrome of occipital encephalocele, myopia,
and retinal dysplasia
Anterior encephalocele among Bantus and Thais.
Teratogenes
Valproic acid (phenotype includes spina bifida)
Aminopterin/amethopterin (phenotype includes
anencephaly and encephalocele)
Thalidomide (phenotype includes, rarely,
anencephaly and meningomyelocele)
Maternal predisposing factors
Diabetes mellitus (anencephaly more frequent
than spina bifida)
Specific phenotypes, but without known cause
Syndrome of craniofacial and limb defects
secondary to aberrant tissue bands (phenotype
includes multiple encephaloceles)
Cloacal extrophy (phenotype includes myelocystocele)
Sacrococcygeal teratoma (phenotype includes
meningomyelocele)
Syndromes and Conditions Associated with NTD
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
ABS
Caudal regression syndrome
Sirenomelia
Cloacal extrophy
Hydrolethalus
Jarcho-Levin syndrome
Meckel-Gruber syndrome (encephalocele)
Median cleft face
OFDSorofaciodigital syndrome
Pentalogy of Cantrell
Renal agenesis
Roberts syndrome (encephalocele)
Walker-Warburg syndrome (encephalocele)
VATER
15.
16.
17.
18.
Trisomy 13 and 18
Trisomy 9
Triploidy
Teratogenes (aminopterin, tegretol, clomiphene,
valproic acid, methotrexate, progestin, dextroamphetamine, caumadin, cytrabine, hyperthermia
and radiation, diabetes).
Table 32.8: Classification of NTD
I. ANENCEPHALUS & SIMILAR ANOMALIES

a. Acephalus
b. Anencephalus
- Incomplete
- Complete
- Craniorhachischisis
c. Iniencephalus
II. SPINA BIFIDA
a. Spina bifida occulta
b. Occult spinal dysraphism
c. Spina bifida cystica - Meningocele, meningomyelocele
III. OTHER ANOMALIES
a. Cranial meningocele, cranium bifidum, and cranial
cephaloceles
b. Encephalocele
IV. ASSOCIATED ANOMALIES
a. Congenital hydrocephalus
b. Arnold-Chiari malformation
c. Dandy-Walker malformation
Holoprosencephaly (Figs 32.1a to f and

32.2a and b)
Failure of embryonic forebrain to cleave sagittally into
cerebral hemispheres, transversely into telencephalon
and diencephalons and horizontally into olfactory and
optic bulbs results in a sequence known as Holoprosencephaly. The degree of failure and the level of failure
of cleavage varies and hence its clinical presentation.
Holoprosencephaly is almost always associated with
mid facial anomalies, the spectrum of which varies
greatly a) Cyclopia: (Fig. 32.2): Single median eye
globe synophthalmia or anophthalmia, proboscis (fused
olfactory placodes forming single tube like structure
above the eye); the brain defect includes alobar
holoprosencephaly. b) Ethmocephaly: The facial
characters include ocular hypotelorism with proboscis
and the associated brain defect is alobar holoprosencephaly. c) Cebocephaly: The facial features are
ocular hypotelorism and blind end of single nostril nose,
207
Fig. 32.1a: Single incisor indicative of a mid-line defect
Fig. 32.1d: Lobar holoprosencephaly picture
Fig. 32.1b: Holoprosencephaly
Fig. 32.1e: Spectrum of facial dysmorphism in Holoprosencephaly. (A) Cyclopia (single median eye) (B) Cyclopia
with single median eye and various degree of doubling of
ocular structures. (C) Cyclopia with proboscis (D) Ethmocephaly (ocular hypotelorism) and proboscis between eyes.
(E) Cebocephaly (ocular hypotelorism and single nostrial
nose) (F) Median clefting and ocular hypotelorism
Fig. 32.1c: Holoprosencephaly
and brain defect is usually alobar holoprosencephaly.

d) Median cleft lip: Ocular hypotelorism, flat nose and
median cleft lip are facial features where as alobar
holoprosencephaly is the brain defect. e) Less severe
facial dysmorphism: include ocular hypotelorism, flat
nose, unilateral or bilateral cleft lip, iris coloboma or
208
Fig. 32.1f: Schematic drawing of the neonatal brain seen from above.
(a) Normal both cerebral hemispheres and lateral ventricles are
completely separated. (b) Alobar holoprosencephaly with absence
of division of the cerebral hemispheres and single primitive
ventricular cavity. (c) Semilobar holoprosencephaly with incipent
separation of the hemispheres in the occipital area and partial
development of occipital and temporal horns of the ventricle (d) Lobar
holoprosencephaly almost completely separated cerebral
hemispheres ventricles are almost separated except for frontal
region and are mildly-dilated
Fig. 32.2a: Holoprosencephaly with cyclopia. Single central proboscis, synophthalmia

and single nostril (cebocephaly)
Fig. 32.2b: Holoprosencephaly with cyclopia. Single central

proboscis, synophthalmia and single nostril (cebocephaly)
other anomalies. Absence of nasal septum and single
midline incisor may be the only facial features in
autosomal dominant holoprosencephaly.
All malformations encountered in holoprosencephaly originate from a single primary defect in
morphogenesis thought to be in the prechordal
mesoderm interposed between the roof of the mouth
and the prosencephalon that takes place around third
week of embryonic period. Prechordal mesoderm is
also responsible for the normal development of the
midian facial structure.
The etiology of holoprosencephaly is heterogenous,
and has been described in i) Chromosomal abnormalities: Trisomy 13, Trisomy 18, del 13q del 18 p,
Triploidy, del 2p dup 3p, del 7, and other rarer
chromosomal abnormalities. ii) Monogenic disorders:
Meckel-Gruber syndrome, Autosomal recessive and
dominant X-linked holoprosencephaly, velocardiofacial
syndrome, Marfan syndrome, campomelic dysplasia,
etc.
In addition to heterogenicity of its origin, holoprosencephaly is associated in few cases of neural tube
defects, frontonasal dysplasia, Goldenhar syndrome,
and CHARGE association. In Trisomy-13 syndrome
holoprosencephaly is present in about 70% of cases,
209
whereas in diabetic embryopathy in 1-2%. In the

autosomal dominant variety the gene HPE3 is located
at chromosome 7q36. The reported incidence of
Cyclopia is 1: 40,000 births and that of cebocephaly
and median cleftlip is 1: 16,000 births, probably the
rate is higher in abortuses.
Iniencephaly (Figs 32.3a to c)
It is an extremely rare (1 in 65,000) complex
abnormality characterized by exaggerated lordosis of
spine, imperfect formation of base of skull, rachischisis.
The spine is short and grossly abnormal. Most of these
cases have associated anomalies: midline defects, CVS
anomalies diaphragmatic hernia and renal and skeletal
anomalies. This condition is invariably fatal. It has to
be differentiated from anencephaly and Klippel-Feil
syndrome.
Anencephaly (Figs 32.4a to e)
It is a type of neural tube defect characterized by the
absence of cerebral hemispheres and cranial vault. It
results from failure of closure of anterior end of neural
tube. Most often it is due to multifactorial in inheritance.
The defect is more common in females. It is commonly
associated with polyhydramnios, spina bifida, cleftlip
Fig. 32.3a: Iniencephaly. Note absence of neck with severe retroflexion

of head due to gross disruption of vertebral column
210
Fig. 32.4b: Anencephaly. Note absence of cranium and

exposure of brain also note frog-like eyes
Fig. 32.4c: Anencephaly. Note absence of cranium and

exposure of brain. Also note frog-like eyes
Fig. 32.3b: Iniencephaly. Note incidental

exampholos
(Red arrow)
Fig. 32.4d: Anencephaly with rachischisis side view
Fig. 32.3c: Iniencephaly. Extreme retroflexion
Fig. 32.4a: Anencephaly. Note absence of cranium and

exposure of brain
Fig. 32.4e: Anencephaly with myelorachischisis
or palate, club feet and omphalocele. Most cranial vault
is absent; frontal bone above supraorbital region and
parietal bone and squamous part of occipital bone are
absent. The crown of head is covered by a vascular
membrane known as area cerebrovasculosa. Beneath
the mass, few remnants of cerebral hemisphere are
found. Diencephalic and mesencephalic structures are
either completely or partly destroyed. Pituitary and
posterior fossa structures are often preserved. Buling
eyes (frog eyes), large tongue, and very short neck with
absence of cranial vault give anencephalic characteristic
appearance.
Prenatal diagnosis is easily made by elevated AFP
and by ultrasonogram as early as 12-13 wks of
gestation. The condition is immediately fatal. About
30% are born alive, but die soon after. These babies
are a potential source of organs for transplantation.
Polyhydramnios and excessive fetal activity are
common. Breech presentation, premature birth, still
birth are common and when cephalic presentations
present in late pregnancy ultrasound identification may
be difficult.
Encephaloceles (Figs 32.5a to d)
These are a group of neural tube defects. Protrusion
of brain tissue through a bony defect in the skull is
termed as encephalocele. When only meningeal tissue
or meninges plus glial tissue protrude through the
defect, it is termed cranial meningocele.
Occipital encephaloceles are the most common type
(60-80%). Other less common sites are parietal,
frontonasal, intranasal, and nasopharyngeal regions.
These is associated hydrocephalus in about half of cases.
These defects are more common in girls. Other NTDs,
cleft lip/palate, absent corpus callosum, Dandy-Walker
malformation occur as associated features.
Amniotic band syndrome, cryptophthalmus syndrome, Walker-Warburg syndrome, frontonasal dysplasia, Meckel syndrome (AR), and Warfarin syndrome
are often associated with occipital encephaloceles.
Frontonasal encephaloceles must be differentiated
from other cystic lesions occurring at the same region.
These include, nasal gliomas, dermoids and teratomas.
Because frontonasal encephaloceles communicate with
211
Fig. 32.5a: Occipital encephalocele due

to amniotic bands
Fig. 32.5b: Occipital encephalocele in a Albin
subarachnoid space, they pulsate or bulge when both

jugular veins are compressed. This fact helps in
differentiating.
Anterior Encephalocele (Figs 32.6a and b)
Most cases are sporadic; differential diagnosis include
hemangiomas, nasal gliomas, and dermoid cysts.
212
Fig. 32.5c: Occipital encephalocele
Fig. 32.6b: Frontal encephalocele
Fig. 32.5d: Occipital encephalocele
Hydrocephalus, hydranencephaly, porencephaly,

arachnoid cysts, hypertelorism anophthalmia, microphthalmia, and small teeth may be associated.
Spina Bifida Occulta (Figs 32.7a to c)
Fig. 32.6a: Frontal encephalocele in a case of

limb body wall complex
When there is defect in the vertebral arch but no

external herniation through the defect, it is termed as
spina bifida occulta. This defect occurs in about 5% of
normal population. Common defects revealed by
radiography include widening of spinal canal, fusion of
vertebral bodies, fused and malformed laminae, spina
bifida and a midline body mass within the spinal canal.
When there is herniation of the meninges or the
meninges and spinal cord through the spinal defect, the
lesion is referred to as spina bifida cystica. In spina bifida
occulta, there is usually no neurologic deficit in the early
part of life but may develop later on. The defect
commonly occurs in L5 or S1 vertebra. There may be
overlying cutaneous lesions indicating occult defect.
213
These lesions are listed in Table 32.9. Presence of any

of these should prompt one to investigate further.
Table 32.9: Cutaneous lesions associated with
spinal dysraphism
Fig. 32.7a: Occult spina bifida with overlying tuft of hair

and rectal prolapse
High index of suspicion
Low index of suspicion
Hypertrichosis
Dimples
Acrochordons/pseudo
tails, true tails
Lipomas
Hemangiomas
Aplasia cutis or scar
Dermoid cyst or sinus
Telangiectasia
Capillary malformation
Hyperpigmentation
Melanocystic nevi
Teratomas
From: Drolet B. Birth marks to worry about. Dermatol

Clin 1998: 16 (3); 447-453.
Meningoceles
Fig. 32.7b: Spina bifida occulta with overlying hirsute skin
In this NTD, there is herniation of only meninges

through the defect. It accounts for 20% of spina bifida
cystica. The lesion appears as a sac covered by a
membrane or by skin which contains only CSF and
transilluminates brilliantly. Common sites are lumbosacral or upper thoracic and cervical regions. There is
associated hydrocephalus in 10% cases. Antenatal
diagnosis by measuring serum AFP level is not possible
because AFP levels are not raised. A meningocele must
be differentiated from meningomyelocele because the
prognoses are vastly different. An infant with meningocele has little or no associated CNS abnormality,
rarely develops hydrocephalus and usually has a normal
neurologic examination.
Meningomyeloceles (Figs 32.8a to h)
Fig. 32.7c: Occult spina bifida with overlying tuft of

hair in an older child
This is the most common type of NTD where there is

herniation of meninges and part of spinal cord through
the defect. The lesion most commonly affects
lumbosacral region. The skeletal defect may involve one
or two vertebrae or may extend the whole length of
the spine. The lesion may appear as a sac of thin
transparent membrane, or as a round bright-red area
resembling granulation tissue and sometimes the spinal
cord may be flattened and exposed, and surrounded
by a thin rim of membranes. Other clinical features
associated with meningomyelocele are listed below.
214
Fig. 32.8a: Lumbosacral meningomyelocele

with hydrocephalus
Fig. 32.8d: Skin covered myelomeningocele
Fig. 32.8b: Cervical myelomeningocele
Fig. 32.8e: Ruptured meningomyelocele
Fig. 32.8c: Ruptured meningomyelocele
Fig. 32.8f: Ruptured meningomyelocele with anal and

urinary incontinence
215
Fig. 32.8g: Lumbosacral meningomyelocele with

hydrocephalus
Fig. 32.9a: Hydrocephaluscerebral aqueductal stenosis.

Note relatively large head size, prominent veins, sunset sign
and relatively small face
Fig. 32.9b: Hydrocephalus Dandy-Walker malformation.

Note large cranium, sunset sign and occipital protuberance
(Right)
Fig. 32.8h: Thoracic myelomeningocele a

relatively rare occurrence
Motor disturbances of skeletal muscles

Sensory disturbances
Sphincter disturbances of bladder and anus
Hydrocephalus
Fig. 32.9c: Hydrocephalusaqueductal stenosis. Note large

head prominent veins, sunset sign and relatively small face
Hydrocephalus (Figs 32.9a to d)

Hydrocephalus is commonly defined as a pathologic
increase in the cerebral ventricular volume. Congenital
hydrocephalus commonly results from obstruction to
normal flow of CSF (Obstructive hydrocephalus).
Aqueductal stenosis is the most common cause for
congenital obstructive hydrocephalus. The obstruction
results from inflammatory gliosis, forming, narrowing

or due to a transverse septum. In aqueductal stenosis,
third and lateral ventricular are dilated. Sometimes
obstruction may be at the exit foramina of fourth
ventricle, foramen of Monro, or within a ventricle or
in a cysterns or at the places of absorption in the
216
Table 32.10: Syndrome associated with hydrocephalus
Hydrolethalus
Osteopetrosis: autosomal recessive lethal
Triploidy syndrome
Walker-Warburg syndrome
X-linked hydrocephalus spectrum
X-linked Hydrocephalus Spectrum (Fig. 32.10)

MASA syndromeacronym for mental retardation,
adducted thumbs, shuffling gait, and aphasia. Bilateral
thumb deformities of flexion and adduction occur in
20% of XLR hydrocephalus due to aqueductal stenosis.
Fig. 32.9d: CT hydrocephalus
arachnoid villi. The term non-communicating hydrocephaly is used when the obstructive site is within the
ventricular system. When the obstruction occurs distal
to the fourth ventricle foramina, i.e. in the cisterns or
cerebral subarachnoid space, the term communicating
hydrocephalus is used. Causes of communicating
hydrocephalus include obliteration of superior sagittal
sinus, absence of arachnoid granuloma, subarachnoid
hemorrhage, etc. Hydrocephalus can rarely be caused
by excessive production of CSF due to choroid plexus
papillomas.
Congenital hydrocephalus may be evident at birth
or may develop soon after. The diagnosis is almost
certain at birth if the head circumference exceeds 97th
centile. In many cases head circumference may be
normal at birth, but head grows excessively in few days.
This fact emphasizes the importance of routinely
measuring head circumference at birth. Apart from
increased head circumference, other features seen are
large, bulging anterior fontanel open posterior fontanel,
widely separated cranial sutures, and dilated scalp veins.
In some cases setting sun sign is observed due to
pressure exerted by suprapineal recess of third ventricle
on the mesencephalic tectum, causing impairment of
ventricle gaze centers (Table 32.10).
Fig. 32.10: XLR Hydrocephalus. Note large cranium, frontal

bossing, short thumb flexed over palms. Also known as
MASA syndromeMental retardation, adducted thumb,
shuffling gait and aphasia
Dandy-Walker Malformation (DWM) (Figs 32.11a

to c)
It is characterized by, 1) hydrocephalus of variable degree,
2) a cyst in posterior fossa, and 3) a defect in the cerebellar
vermis through which the cyst communicates with 4th
ventricle. Other associated anomalies include agenesis
of corpus-callosum, aqueductal stenosis, occipital
encephalocele, polymicrogyria, syringomyelia, heterotopias, facial angiomas, midline cleft palate, cardiovascular
malformations, and polycystic kidneys. The etiologies
of DWM is unknown and may be associated with Meckel
syndrome, Warburg syndrome, Turner syndrome,
maternal diabetes and alcoholism and intrauterine
infections. It may also occur as an isolated AR trait.
217
Fig. 32.11a: Dandy-Walker cyst with dilated third

ventricle and lateral ventricle
Fig. 32.11c: CT Dandy-Walker malformation
Congenital Scalp Defect (Fig. 32.12)
Fig. 32.11b: Dandy-Walker antenatal scan. Note dilated

cyst and associated ventricular enlargement
Also called aplasia cutis congenita. It is characterized

by congenital absence of skin, that can occur any where
in the body, though scalp lesions are more common.
Most lesions of the scalp are at or near the vertex. It
can occur in isolation or may be associated with cerebral
or extra cerebral abnormalities. Eighty percent of cases
are sporadic and remaining are inherited as AR or AD.
Malformation syndromes associated with scalp defects
are Johanson Blizzard syndrome, amniotic band
syndrome, ectodermal dysplasias, trisomy 13, deletion
of short arm of chromosome 4. Most scalp defects pose
only a cosmetic concern if the underlying bone is intact.
Fig. 32.12: Congenital scalp defect may be isolated or associated with syndromes like trisomy 13
218
In approximately 20% of cases, there is an underlying

defect of the skull and dura, leaving the brain exposed
at the base. This poses a risk of meningitis, hemorrhage
or thrombosis involving exposed cortical veins. This
type of lesions should be managed surgically.
Microcephaly (Figs 32.13a to h)
It is a clinical syndrome characterized by head circumference 5th centile below the normal range. The term
micrencephaly is used when smallness of brain or of
the cerebral hemispheres is the only lesion. Microcephaly
may be caused by micrencephaly or by acquired atrophic
lesions. Micrencephaly may be caused by chromosomal
abberations, many single gene disorders, TORCH and
other teratogens, many dysmophic syndromes.
Micrencephalies can also occur as an isolated feature
inherited as an autosomal recessive and XLR trait (Table
32.11).
Fig. 32.13a: Tower-shaped skull or acrocephaly due to

premature fusion of coronal sutures
Table 32.11: Conditions causing microcephaly

Congenital developmental anomalies
Holoprosencephaly
Lissencephaly
Polymicrogyria
Schizencephaly
Chromosomal anomalies
Trisomy 13, 18, and 21
Deletion syndromes
Systemic syndromes
Cat cry syndrome
Cockayne syndrome
Fetal alcohol syndrome
Hallermann-Streiff syndrome
Fetal hydantoin syndrome
Rubinstein-Taybi syndrome
Prader-Willi syndrome
Congenital viral infections
TORCH
Biochemical disorders
Maternal DM
Maternal uremia
Maternal phenylketonuria
Congenital hypothyroidism
Primary familial microcephaly (AD or AR)
Destructive lesions
Cerebral hypoxia
Intraventricular hemorrhage
Modified and adapted from: Vannucci RC, Fanaroff AA, Martin
RJ (eds). Neonatal Perinatal Medicine 6th edition. 1977
Mosby-Year Book Inc.
Fig. 32.13b: Brachycephaly. Note anteroposterior flattening
Fig. 32.13c: Trigonocephaly-Deletion 9 p syndrome. Craniostenosis involving metopic sutures lead to trigonocephaly.
This was a case of 9 p minus syndrome. It can also be seen
in 11q minus and 13q minus syndromes
219
Fig. 32.13g: Mechanism of formation of

abnormal shapes of skull
Fig. 32.13d: Microcephaly
Fig. 32.13e: Clover leaf skull deformity.

X-ray of skull, APLateral
Fig. 32.13h: Tower-shaped skull due to

premature closure of coronal sutures
Fig. 32.13f: Clover leaf skull deformity
Macrencephaly
The term macrencephaly denotes large brain.
Macrocephaly is the term used to denote large head,
with head circumference above 90th centile.

Macrencephaly results from excessive amounts of
normal brain constituents, cellular proliferation or by
storage of metabolites. Macrencephaly can occur in
association with many syndromes viz. BeckwithWiedemann syndrome, cerebral gigantism, achondroplasia, fragile X syndrome, Klinefelter syndrome. It
can also occur as a familial trait (AD or AR).
220
Abnormal Shapes of Head (Figs 32.13e to h)

Misshapen heads usually result from premature closure
of one or more cranial sutures, which is termed as
craniosynostosis. It can be simple when only one suture
is fused or compound when two or more sutures are
affected. The sagittal suture is the most commonly affected suture (50%) followed by single coronal, both
coronals, metopic and lambdoid. Premature closure of
a suture produces a combination of primary and secondary cranial deformities due to limitations of brain
growth along the length of the suture and compensatory over growth parallel to the line of fusion. Various
names given to the deformities and their mechanism
are depicted below. Craniostenosis can occur as an
isolated phenomenon or as a part of a dysmorphic
syndrome like Crounzon, Pfeiffer, Apert, Jachson, Weiss,
etc.
Fig. 32.14b: Otocephaly. Note agnathia frontal view

showing synotia
It is an extremely rare anomaly resulting from failure

of development of the mandible, that leads to an
abnormal position of the ears, which are horizontal with
lobules located close to the midline. It may be
associated with other malformations like holoprosencephalies, NTDs, cephaloceles, midline proboscis,
hypoplastic tongue, TEF, congenital heart disease and
adrenal hypoplasia.
Arnold-Chiari Malformations (Fig. 32.15)
Otocephaly (Figs 32.14a and b)

It is a grotesque anomaly characterized by absence or
hypoplasia of the mandible, proximity of the temporal
bones, and abnormal horizontal position of the ears.
Fig. 32.14a: Otocephaly. Note agnathia side view

showing towering skull, proboscis and agnathia
These malformations are characterized by cerebellar

elongation and protrusion through the foramen
magnum into the cervical spinal cord. Four types have
been described.
Fig. 32.15: Arnold-Chiari malformation
Type I: In this type, the medulla is displaced caudally
into the spinal canal, and the inferior pole of the
cerebellar hemisphere is herniated through the foramen
magnum.
Type II: Any feature of type I plus displacement of
medulla, cerebellum and either part or whole fourth
ventricle in the spinal canal. It is usually associated with
non communicating hydrocephalus and lumbosacral
spina bifida.
221
ANOMALIES OF THE FACE REGION

Pierre Robin Sequence (Figs 32.17a to d)
This sequence consists of micrognathia, glossoptosis, and
posterior U-shaped cleft palate. The primary disorder
is early hypoplasia of mandible that results in secondary
posterior placement of tongue and tertiary prevention
of the normal closure of the posterior palatine processes.
In 25% of cases, a known syndrome is associated, some
of which are listed below.
Type III: Any combination of features of type I or II with

herniation of entire cerebellum through the foramen
magnum with a cervical spina bifida cystica.
Type IV: This is characterized by hypoplasia of
cerebellum. It was included by Chiari. It bears no
relation to other Chiari malformation.
Porencephalic Cysts (Fig. 32.16)
It is an intraparenchymal cyst that may or may not
communicate with ventricular cavity. This lesion is
usually limited to cerebral hemisphere. This correlates
clinically by spastic hemiplegia, hemisensory deficits, and
hemianopia. It results from the dissolution of necrotic
regions of brain, with cavitation and cyst formation
within the parenchyma of the cerebral hemisphere.
Necrosis results from vascular or infectious insults in late
fetal or early neonatal period.
Fig. 32.16: Porencephalic cyst
Fig. 32.17a: Pierre Robin sequence. Note

micrognathia crumpled helix
Fig. 32.17b: Pierre Robin sequence. Note cleft palate

and post placed tongue
222
Median Cleft Lip (Fig. 32.18)
A quadrangular or triangular median defect of upper
lip possibly extending posteriorly to the nose. There is
a close relationship between development of the
midline facial structures and the differentiation process
of forebrain. Therefore, cerebral anomalies like
holoprosencephaly are commonly often with defect.
Cleft Lip and Palate (Fig. 32.18)
Fig. 32.17c: Pierre Robin sequence.

Note severe micrognathia
This term refers to a wide spectrum of lateral clefting

defects usually involving upper lip, the palate or both.
Median cleft lip and palate is a different entity. Vast
majority of CL/CP are due to multifactorial etiology.
Many malformation syndromes may be associated with
cleft lip/palate. Few examples are given below: Risk of
recurrence in siblings and offsprings has been determined and is given on page 224.
Fig. 32.17d: Pierre Robin sequence. Note micrognathia,

U-shaped cleft palate and glossoptosis
Upper airway obstruction, suffocation, feeding

difficulties, failure to thrive and occasional sudden deaths
are the common complications. With proper management complications can be avoided.
Fig. 32.18a: Unilateral cleft lip and palate (severe)
Common Associates of Pierre Robin Sequence
Diastrophic dysplasia
Stickler syndrome
Spondyloepiphyseal dysplasia
Beckwith-Wiedemann syndrome
Myotonic dystrophy
Camptomelic syndrome
Trisomy 11q +
Fetal alcohol syndrome
Trimethadione syndrome
Fig. 32.18b: Cleft lip and palate bilateral
223
Fig. 32.18e: Cleft palate in a case of Pierre Robin

sequence. Note micrognathia and glossoptosis
Fig. 32.18c: Cleft lip and palate bilateral

in a case of EEC syndrome
Fig. 32.18f: Cleft palate in a case of Pierre Robin

sequence. Note micrognathia and glossoptosis
Fig 32.18d: Bilateral cleft lip and plalate
Fig. 32.18g: Cleft lip and palate unilateral
224
Fig. 32.18h: Median cleft in a case of holoprosencephaly
Fig. 32.18j: Median cleft in a case of

short rib polydactyly (Majewski type)
Meckel syndrome
ABS syndrome
Multiple pterygium syndrome
Chromosomal
Roberts syndrome
Trisomy 13 and others
Chondrodysplasia punctata
Isolated cleft palate
Risk to sibs and offspring of a single case
Cleft lip and palate
Risk to sibs or offspring of a unilateral case
Risk to sibs or offspring of a bilateral case
2%
4%
5.5%
Fig. 32.18i: Median cleft in a case of trisomy 13
Epignathus (Fig. 32.19)

AD
Van der Woude syndrome
AR
Larsen syndrome
SLO syndrome
XL
OPD syndrome
OFD syndrome
Others
Robin sequence
de Lange syndrome
It is a teratoma that originates from the soft or hard

palate in the region of Rathkes pouch. It presents as
a mass that protrudes from the mouth. In the fetal
period it can interfere with swallowing and can lead to
polyhydramnios. Though these tumors are benign,
recurrence rate is high after surgical excesion.
225
Fig. 32.20b: Microphthalmos. Note medial epicanthic folds
Fig. 32.19: Epignathus. Protruding teratomatous mass

from palate derived from Rathkes pouch
Eye Anomalies
Cryptophthalmos/Anophthalmos /Microphthalmos
(Figs 32.20a to h)
Cryptophthalmos is a condition that occurs when the
lid folds fails to develop. The skin over the globe passes
continuously from the forehead to the cheek.
Anophthalmos is the absence of an eye. It is a rare
isolated ocular abnormality caused by failure of
formation of optic vesicle during embryonic period.
Fig. 32.20a: Nonsyndromic cryptophthalmos

AR inheritance
Fig. 32.20c: Anophthalmia. Absent eyes small orbits note

smooth philtrum flat nose AR inheritance. Anophthalmia can
be part of chromosomal syndrome, e.g. trisomy 13
Fig. 32.20d: Bilateral cryptophthalmos.

Nonsyndromic AR inheritance
226
Fig. 32.20e: Cryptophthalmos: Two sibs with

Cryptophthalmos parents normal AR inheritance
Fig. 32.20g: Anophthalmos. Microcornea right,

anophthalmos left and abnormal pinna
Fig. 32.20h: Microphthalmos with hemifacial atrophy
gens, and in many genetic syndromes like CHARGE

association, frontonasal dysplasia, Fraser syndrome,
Goldenhar syndrome, Lenz syndrome, Goltz syndrome,
Hallermann-Streiff syndrome, Oculodentodigital
syndrome, Penashokeir syndrome, and Fanconi
syndrome.
Fig. 32.20f: Cryptophthalmos: unilateral nonsyndromic
Microphthalmos is a relatively common condition

occurring in 1 in 2000 live births. In this condition the
eye is smaller than normal and reduced in volume.
Microphthalmia occurs in various chromosomal
anomalies, TORCH and other environmental terato-
Neonatal Cataracts (Fig. 32.21)

When dealing with a newborn with lens opacity it is
important to note whether involvement is unilateral or
bilateral. Bilateral cataracts usually indicate systemic
diseases or heritable conditions. While most unilateral
cataracts are due to local causes. Important causes of
cataract in the newborn period are given below.
227
Inborn errors of metabolism

Galactosemia
Galactokinase deficiency
Lowe syndrome
Birth trauma
Endocrine
Congenital hypoparathyroidism
Albright hereditary osteodystrophy
SLO (Smith-Lemli-Opitz syndrome)
Miscellaneous
Aniridia
Treacher Collins syndrome
Pierre Robin syndrome
Hallermann-Streiff syndrome
Chromosomal
Trisomy 13,18,21
Turner
From Fanaroff
Neonatal Corneal Opacities (Figs 32.22a to c)
Fig. 32.21a: Note large central cataract. Can be part of distinct
syndrome. 10% are hereditary. Bilaterality usually indicate
systemic diseases or heritable condition. Some times type
of cataract can give a clue to pattern of inheritance
Fig. 32.21b: Cataract in a case of Down syndrome
Genetic
- Dominant
- Recessive
- X-linked recessive
Congenital viral infection
TORCH
The ophthalmologist examining an uncooperative infant

with cloudy corneas often feels stumped. This feeling
provides the acronym STUMPED for differential
diagnosis of cloudy corneas.
SSclerocornea
TTears in Descemets membrane
Infantile glaucoma
Trauma
UUlcer
Herpes simplex
MMetabolic
Mucopolysaccharidosis
Mucolipidosis.
Tyrosinosis.
PPosterior corneal defect
Posterior keratoconus
Peters anomaly
Staphyloma.
EEndothelial dystrophy
DDermoid central
Modified and adapted from:
Leibowitz HM, Waring III GO, Corneal Disorders, 2nd edn.
1998 W.B. Saunders Company: Philadelphia.
228
External Ear Malformations (Figs 32.23a to d)
Fig. 32.22a: Corneal dystrophy
The external and middle ears are derived from first and
second bronchial arches, and grooves during first half
of gestation and continue to grow till puberty.
Malformed external and middle ears may be associated
with serious renal anomalies, mandibulofacial dysostosis,
hemifacial microsomia, and other craniofacial
malformations. Other associations include abnormalities
of facial nerve, inner ear malformation and hearing loss
(both conductive and sensory neural). Pinna
malformation mainly include (1) Pit-like depression in
front of helix and above the tragus. It may represent
a cyst or an epidermis lined fistula. Its incidence is 8
per 1000. (2) Accessory skin tags: Incidence is 1-2 per
1000 births. They often contain a core cartilage appear
to represent accessory hillock of His, the hillocks that
normally developed in the recess of the mandibular and
hyoid arches and coalesce to form the auricle.(3) Lop
ears. This results from lack of bending of the cartilage
that forms the antihelix. (4) Microtia-includes subtle
abnormalities of the size, shape, and location of pinna.
Facial nerve may be abnormal. (5) Low set ears: This
designation is made when the helix meet the cranium
at a level below that of horizontal plane which may be
an extension of a line through both inner canthi.
Fig. 32.22b: Corneal dystrophy. Uniformly opaque cornea.

Corneal dystrophy can be part of many syndromes it can be
AD or AR. Any of the five layers of cornea may be involved
in genetic syndromes
Fig. 32.22c: Corneal dystrophy. Seen along with limb

body wall complex
Fig. 32.23a: Ear anomalies. Note cleft-like extension of

angle of mouth right sideGoldenhar syndrome
229
Fig. 32.23b: Ear tag
Fig. 32.23d: Lop ear
Fig. 32.23c: Skin tags in front of right ear and cheek
Cystic Hygroma (Figs 32.24a to c)

The term Hygroma means moist tumor. They are
single or multiple cystic anomalies of the lymphatics
within the soft tissues, usually involving the neck. It
occurs in 1 in 200 spontaneous abortuses.
In the embryo the lymphatic system drains into the
jugular lymphatic sac. A communication between this
primitive structure and jugular vein is formed around
40 days of gestation. Failure of development of this
communication results in lymphatic stasis, lymphatic
dilation, formation of cystic hygroma and sometimes
hydrops and intrauterine death, causing jugular
lymphatic obstruction sequence.
Fig. 32.24a: Cystic hygroma
Cystic hygromas when occur in the lateral and posterior region of neck are often associated with chromosomal anomalies and hydrops (Trisomy 21, 18 and/Turner
syndrome). When they occur elsewhere (skin, chest,
abdomen, limbs, retroperitoneal) associated lesions, they
are not associated with chromosomal anomalies.
230
Fig. 32.24b: Infantogram showing bilateral cystic hygroma

in an abortus with Turner syndrome
examination. Nuchal lucencies are seen in achondrogenesis, Apert syndrome, EEC syndrome, Fryn
syndrome, Joubert syndrome, Multiple Pterygium
syndrome, Noonans syndrome and Smith-Lemli-Opitz
syndrome. Nuchal cystic hygroma can be diagnosed in
the first trimester of pregnancy and some of these
improve. When they are associated with septa or
hydrops, resolution is unlikely.
Nuchal lucencies often resolve whether associated
with abnormal karyotype or not. But totally normal
outcome of the fetus cannot be predicted, as it may
be associated with several syndromes.
Most fetuses with the full XO syndrome are miscarried in the first trimester, prior to prenatal diagnosis
or have large cystic hygromata with severe lymphoedema, leading to death later in gestation. Those who
survive have regression of the cystic hygromata,
resulting in webbing of the neck.
The size of cysts varies and has internal septa giving
honeycomb appearance in US examination.
When detected, fetal karyotyping by cordocentesis
or CVB is indicated. Large cystic hygromas with septa
within, are associated with hydrops and have almost
100% mortality.
Diaphragmatic Hernia (Figs 32.25a to h)
Fig. 32.24c: Bilateral cystic hygroma
Nuchal lucency and cystic hygromata seen in

ultrasound examination are the spectrum of the same
condition. Cystic hygromata are seen in the 2nd
trimester of pregnancy.
Amniotic band syndrome, encephalocele, cervical
meningocele, neck tumors, subcutaneous edema are
often confused with cystic hygromata during ultrasound
Diaphragmatic hernia consists of protrusion of the

abdominal organs into the thoracic cavity through a
diaphragmatic defect. It include
a. Posterolateral diaphragmatic herniaBochdalek
hernia (90%)
b. Retrosternal diaphragmatic herniaMorgagni
hernia (1-2%)
c. Eventration of diaphragm (5%)an upward
displacement of abdominal contents into thorax due
to weak aponeurotic diaphragm.
The incidence varies from 0.03 to 0.05% births. It
can be sporadic and familial. It may be associated with
Beckwith-Wiedemann syndrome, Pierre Robin
syndrome and congenital choanal atresia and
chromosomal abnormalities.
Prognosis is generally bad with 1/3 being dead born
and may have associated serious CNS and cardiac
defects. Those who manifest respiratory disorder and
failure immediately after birth, and those detected in
utero have poor prognosis.
231
Fig. 32.25a: Congenital diaphragmatic hernia of

Morgagnian type
Fig. 32.25c: CDH at autopsy showing coils of
intestine in the thorax
Fig. 32.25b: Antenatal ultrasound demonstrating CDH. Note

heart and stomach bubble lying side-by-side in the thorax
Fig. 32.25d: Morgagnian type of CDH with barium

contrast study
232
Fig. 32.25e: X-ray of CDH showing coils of intestine in

the left hemithorax
Fig. 32.25g: Eventration of diaphragm
Fig. 32.25f: Eventration of diaphragm with barium in the

intrathoracic intestinal lumen
Fig. 32.25h: Eventration of diaphragm showing

sternal recession
233
Polyhydramnios and altered position of heart in

thorax usually by the side of diaphragm are features
to detect CDH by ultrasound antenatally.
Those who present in newborn, present with
respiratory distress, cyanosis, apparent dextrocardia
scaphoid abdomen and bowel sound in left
hemithorax.
Predictors of Mortality in CDH
1. Position of stomach: Presence of stomach in thorax
indicates poor prognosis and its presence in abdomen carries better prognosis.
2. Lung size: Severe hypoplasia of lung which is
determined by comparing in utero lung area with
thoracic area, is indicative of poor prognosis.
3. Cardiac anomalies: CDH with associated cardiac
structural anomalies carries poor prognosis.
4. Chromosomal anomalies: Hernias in associating with
chromosomal abnormalities carry poor prognosis.
Prenatal diagnosis: The gold standard for antenatal
diagnosis is by ultrasound examination. The features
suggestive are:
a. Polyhydramnios
b. Absent or intrathoracic stomach bubble
c. Mediastinal and cardiac shift
d. Fetal hydrops in extreme cases.
Umbilical Hernia (Fig. 32.26)
Umbilical hernia (often associated with diastasis recti)
is due to an imperfect closure or weakness of the
umbilical ring especially in LBW babies. The lesions are
found in 30% of Black infants and 4% of White infants
under 6 weeks.
It appears as a soft swelling covered by skin that
protrudes during crying, coughing, and straining, and
can be easily reduced. The size of the defect varies from
less than 1 cm in diameter to as much as 5 cm.
Strangulation is rare.
Most umbilical hernias will disappear spontaneously
by 1 year of age. Even large hernias have been known
to disappear spontaneously by 5 to 6 years of age. If
hernia persists beyond three years of age causing
symptoms, or gets strangulated or becomes
Fig. 32.26: Umbilical hernia
progressively larger after the age of 1-2 years then

surgery should be considered.
Omphalocele (Figs 32.27a to c)
Omphalocele is a ventral wall defect characterized by
herniation of the intra-abdominal contents into the base
of the umbilical cord, with a covering amnioperitoneal
membrane.
Pentalogy of Cantrell is associated with 5 anomalies,
(1) Midline supraumbilical abdominal defect. (2) Defect
of lower sternum. (3) Deficiency of diaphragmatic
pericardium. (4) Deficiency of anterior diaphragm and
(5) Intracardiac abnormalities.
Beckwith-Wiedemann syndrome is characterized by
the association of macroglossia, visceromegaly and
Fig. 32.27a: Omphalocele
234
Gastroschisis (Figs 32.28a to b)
It is a paraumbilical defect of the anterior abdominal
wall associated with evisceration of abdominal organs
and most cases are sporadic.
The defect is usually located in the right paraumbilical area, the umbilical cord is normally connected
to the abdominal wall and the herniated organs are not
covered by a membrane. In omphalocele, it is central
surrounded by a membrane on which umbilical cord
is inserted.
Fig. 32.27b: Omphalocele
Fig. 32.28a: Gastroschisis
Fig. 32.27c: Antenatally-diagnosed omphalocele. Note

coils of intestine lying outside abdominal wall
omphalocele. Omphalocele may be sporadic or may

be associated with trisomy 13 and 18. Cardiac anomalies and neural tube defects are common associations.
Differential diagnosis is shown in the list below.
Fig. 32.28b: Gastroschisis. Note edematous coils of

intestine
Ectopia Cordis (Fig. 32.29)

Associated Anomalies in Omphalocele
Beckwith Wiedemann
Conjoined twins
Imperforate anus
Trisomy 18
Ileal atresia
Meningocele
Absence of limb
Cardiac anomalies (20%).
In this condition heart is displaced out of the thoracic

cavity. In more than 60% of cases displacement occurs
through a defect in the sternum and in 30% heart gets
displaced into the abdominal cavity through a defect
in the diaphragm. In about 7% of cases thoracoabdominal defect is seen which also forms a component
in the Pentalogy of Cantrell. In the remaining 3% there
is cervical displacement. Associated malformations
include, intracardiac, facial, CNS and skeletal. It can
235
Fig. 32.29: Ectopia cordis
result from amniotic bands. Most babies are dead and

die soon after birth.
Body Stalk Anomaly (Figs 32.30a and b)
This is a severe form of abdominal wall defect due to
failure of formation of the body stalk and is characterized by absence of the umbilicus and umbilical cord.
Most cases are sporadic. The fetus is attached to the
placenta and uterine wall and a large defect of
the anterior abdominal wall allows protrusion of the
viscera.
NTD, GIT, genitourinary and skeletal cardiac, lung
anomalies are common. One umbilical artery is usually
absent.
Prune Belly Syndrome (Eagle-Barrett
Syndrome) (Figs 32.31a to d)
The term prune belly syndrome describes triad of
deficiency of abdominal muscles, dilatation of urinary
tract, and failure of testicular descent. This term should
not be confused with prune belly which denotes lax and
wrinkled abdomen It results from early fetal urethral
obstruction. The pathogenesis is believed to be
secondary to abdominal stretching and distention
during fetal development.
It is usually associated with urinary tract abnormalities such as a grossly dilated bladder, hydronephrosis,
b
Figs 32.30a and b: Body stalk anomaly.Note placenta
attached directly
and hydroureter. Primary urethral obstruction may

explain male predominance and a primary defects in
the mesoderm with secondary renal abnormalities is
also suggested. A milder form partial or incomplete
syndrome includes cryptorchidism, mild urinary tract
abnormalities, mild or unilateral abdominal musculature, and deficient abdominal musculature but with
normal genitourinary system. Persistent urachus and
lower limb shortening are often associated. The
wrinkled abdominal wall gives it the descriptive term
prune belly syndrome.
Chronic abdominal distention in fetus may produce
similar syndrome. Asymmetric lower limbs reduction
236
Fig. 32.31a: Prune belly syndrome
Fig. 32.31c: Distended abdomen on X-ray
Fig. 32.31b: Distended abdomen (X-ray)
Fig. 32.31d
deformities of legs with or without digits have been

described.
membrane invades the entire cloacal membrane except

at the urogenital floor, where the genital tubercles fuse.
Failure of the infraumbilical membrane to invade the
cloacal membrane results in vesicle exstrophy alone,
representing an intermediate spectral deficiency in its
lining. If it occurs before the formation of the urorectal
septum, the more severe cloacal exstrophy results. If
it occurs still later, only epispadiasis results.
The anatomic defects include an absent umbilicus,
protrusion of an exposed posterior bladder wall
Exstrophy of the Bladder or Ectopia Vesicae

(Fig. 32.32)
This anomaly occurs once in 30,000 births. Exstrophic
anomalies include bladder exstrophy, epispadiasis, and
cloacal exstrophy. These conditions result from a
premature breakdown of the infraumbilical membrane
(mesoderm) to varying degrees. Normally, this
237
Table 32.12: Abdominal wall defects

Gastroschisis
Omphalocele
LBWC
Cloacal extrophy
Site
Rt. paraumbilical
Lateral
Below umbilicus
Membrane
CVS anomalies
Other anomalies
Chromosomal anomalies
__
Rare
Rare
__
Midline cord insertion

site
+
Common
Common
Common
+
Common
Always (Spine, limb.
__
Variable
10-15%
Always (Spine, GU)
__
LBWC - Limb body wall complex; GU Genitourinary
2. Isolated esophageal atresia without tracheoesophageal fistula (3-5%).
Fig. 32.32: Exstrophy of bladder
mucosal surface with its striking cherry-red color, the

ureteral orifices spurting urinary effluxes, and sharp
demarcation between the exposed bladder mucosa and
the surrounding skin. There is gap in pelvic symphysis
dorsally tethered incomplete penis, ventrally incomplete
prepuce, broadly splayed glans, short urethral mucosal
strip between the bladder and the glans, but a normally
descended testis, and an underdeveloped scrotum. In
females, divergent labia and mons, bifid clitoris, and
large external urinary meatus occurs (Table 32.12).
Fig. 32.33a: Esophageal atresia with blind pouch in

barium contrast study
Esophageal Atresia (Fig. 32.33)

It occurs in between 1 in 3000 to 1 in 4500 live births.
The exact etiology is not known. Associated anomalies
are seen in more than 50% of cases.
There are five major anatomic types
1. Esophageal atresia with distal tracheoesophageal
fistula(commonest, 85%.): In this type, the
proximal esophagus ends at about T3 vertebra, and
the distal segment of esophagus communicates
through fistula with lower end of trachea.
Fig. 32.33b: Bubbly baby in esophageal atresia
238
CHARGEColobomata, Heart disease, atresia, Mental
Retardation, Genital hypoplasia, and Ear anomalies
and Deafness.
Other associated anomalies include: Rib anomalies,
vertebral abnormalities, duodenal atresia, hydrocephalus, intestinal malrotation.
Fig. 32.33c: Coiled infant feeding tube in a case of

esophageal atresia
Diagnosis: Infants are unable to swallow saliva and

have excessive secretions requiring frequent suctioning.
If the infant is fed he regurgitates immediately with
choking and coughing.
Inability to pass the nasogastric tube beyond 9-13
cm from alveolar ridge should raise suspicion and
diagnosis can be confirmed by radiograph of chest,
neck, and abdomen. Air in the abdomen confirms the
presence of distal TEF. A gasless abdomen is suggestive
of pure atresia.
Prenatal diagnosis is sometimes possible by
demonstrating polyhydramnios with absence of stomach
gas bubble. But this is not a specific finding.
Duodenal Atresia (Fig. 32.34)
It occurs once in 10,000 live births and almost 1/3
cases have associated Down syndrome (Table 32.13).
Fig. 32.33d: Esophageal atresia antenatally-diagnosed

showing blind pouch
3. Isolated tracheoesophageal fistula without atresia

(3-6%).
4. Esophageal atresia with proximal fistula (2%).
5. Esophageal atresia with fistulas to the upper and
lower esophageal segments (3-5%).
Esophageal atresia are associated with part ofVATERVertebral and Vascular, Anal, Tracheal,
Esophageal, Radial and Renal.
VACTERLVertebral, Anal, Cardiac, Tracheal,
Esophageal, Renal and Limb.
Fig. 32.34a: Erect abdomen radiograph in duodenal

atresia showing classical double bubble
239
Depending on the degree of obstruction, the proximal

duodenum and stomach dilate to several times their
normal size with collapsed distal bowel loops. About half
of cases will have polyhydramnios.
Antenatal diagnosis is possible by detecting dilated
stomach and proximal duodenum. The symptoms
include biliary or non-biliary vomiting, abdominal
distention, continuous nasogastric tube aspiration and
X-ray demonstration of double bubble appearance.
Congenital Hypertrophic Pyloric Stenosis
(Figs 32.35a to e)
Fig. 32.34b: Antenatal scan in a duodenal atresia

showing dilated stomach and proximal duodenum
It is one of the commonest surgical conditions presenting in the later part of neonatal period occurring
more commonly in males. The clinical features include
persisting projectile nonbilious vomiting in a healthy
hungry baby.
Examination reveals visible gastric peristalsis and
pyloric mass. The technique of palpating the mass is
very important. The first requisite should be relaxed
baby , mother and the physician. Baby should be put
to left breast and physician should palpate the mass
with his left hand standing on the left side by using three
fingers: ring, middle and index fingers.
The index finger lifts the liver up and ring finger
pushes the coils of intestine down and middle finger
palpates the mass with a kneading movement which is
felt as the tip of nose.
Table 32.13: Duodenal atresia associated anomalies

Down syndrome (30%)
Congenital heart disease (20%)
Other GI anomalies (26%)
- Malrotation
- Esophageal atresia
- Imperforate anus
- Ileal atresia
- Transposed liver
- Duodenal duplication
Vertebral anomalies
- Abnormal number of ribs
- Sacral agenesis
- Hemivertebral bodies
- Cervical ribs
Renal anomalies
Fig. 32.35a: CHPS being operated
240
Fig. 32.35d: CHPS-visible gastric peristalsis

Fig. 32.35b: CHPSbarium study showing the
umbrella sign
Fig. 32.35e: Visible gastric peristalsis in CHPS

Fig. 32.35c: Method of palpating for pyloric mass in
CHPS
Ileojejunal Atresias (Fig. 32.36)

It is important to differentiate these from more common
duodenal atresia, because the latter is associated with
high incidence of other anomalies unlike these conditions. Site of atresia is equally distributed from Treitz
ligament to ileocecal valve. As said above only about
10% cases have associated anomalies. These babies
present with polyhydramnios when in utero. After birth
biliary vomiting (more proximal) and abdominal
distention (less proximal). Diagnosis is made by
radiographic examination. Features of bowel atresia are
summarized in the Table 32.14.
Fig. 32.36a: Multiple fluid levels indicative of lower

intestinal obstruction
241
Fig. 32.36b: Ileal atresia showing atretic ileal

segment on table
Fig. 32.36d: Jejunal atresia at autopsy
Fig. 32.36c: Barium meal study in jejunal atresia
Fig. 32.36e: Jejunal atresia erect abdomen showing

triple bubble appearance
242
Table 32.14: Clinical features of bowel atresia
Polyhydramniosmore common in proximal obstruction

Distended abdomen
Bile stained amniotic fluid due to antenatal vomiting
(common in duodenal atresia)
Gastric aspiration of large volume (>25 ml)
Biliary aspirate
Vomiting in the immediate neonatal period
Indirect hyperbilirubinemia
Hirschsprungs Disease (Figs 32.37a and b)

It occurs approximately 1 in 5000 births and is a
common cause of intestinal obstruction in the neonatal
period. The basic defect lies in the congenital absence
of ganglia in the affected segment of bowel. This
aganglionic segment does not propagate the peristaltic
wave, thus causing a functional bowel obstruction. Distal
part of the colon is commonly affected. Clinically these
Fig. 32.37b: Colostomy done in a case of

Hirschsprungs disease
neonates present with abdominal distention, biliary

vomiting, and failure to pass stool. It is worth remembering that 94% of normal term newborns pass
meconium in the first 24 hrs whereas 94% of infants
with Hirschsprungs disease do not pass stool in the first
24 hrs. The recurrence risk for sibs is given in Table
32.15.
Table 32.15: Hirschsprungs disease
recurrence risk for sibs
Index case
Short segment
Male
Female
Long segment
Male
Female
Male sib
Female sib
4.7
8.1
0.6
2.9
16.1
18.2
11.1
9.1
Imperforate Anus (Figs 32.38a to c)

Definition
Imperforate anus is the lack of an anal opening at
proper location or of proper size. It may be a part of
syndromes that are listed below (Table 32.16):
Types
Fig. 32.37a: Hirschsprungs disease.
Note distended abdomen
1. High imperforate anus: The rectum ends above the

pubo-rectalis sling, the main muscle responsible for
maintaining fecal continence.
243
Fig. 32.38c: Imperforate anus
Fig. 32.38a: Imperforate anus
2. Low imperforate anus: The rectum has traversed the

pubo-rectalis sling in correct position. Variants
include anal stenosis, imperforate anus with perineal
fistula and imperforate anus without fistula.
Diagnosis
1. By inspection and calibration of any perineal
opening.
2. In low imperforate anus meconium may be passed
into the vagina or it may be found in the rugal folds
of the scrotum.
3. In high imperforate anus, the meconium particles
may be present in the urine or in the vagina.
Investigations
Fig. 32.38b: Invertogram for imperforate anus
1. Vaginal examination with a nasal speculum or

cystoscope
2. Ultrasound
Table 32.16: Syndrome featuring anal atresia

Syndrome
Features
Cause
VATER
Vertebral anomalies, T-E fistula, renal and radial defects
Sporadic
G-syndrome (Opitz-Frias)
Hypertelorism, laryngeal cleft and hypospadias
? X-linked recessive
Kaufman-McKusick
Hydrometrocolpos, polydactyly and congenital heart defect
Autosomal recessive
Johanson-Blizzard
Hypoplastic alae nasae, scalp defects, malabsorption, and

hypothyroidism
Autosomal recessive
Asymmetric crying facies
Mostly sporadic
Cat-eye syndrome
Coloboma, congenital heart defect and mental retardation
Partial trisomy 22
244
Management
1. Colostomy for high anomalies.
2. Perineal anoplasty or dilation of fistula for low lesion.
If the level is not known, colostomy is preferable to
blind exploration of the perineum.
HYDROCELE (FIG. 32.39)

This condition in the neonatal period is usually due to
persistent patency of the processus vaginalis which
allows peritoneal fluid to enter an accumulate within
the tunica vaginalis. Spontaneous obliteration of the
processus vaginalis occurs in more than 95% of cases
within first year of life and the surgical treatment needs
to be undertaken only when the hydrocele is
exceptionally large.
Fig. 32.40a: Ambiguous genitalia
Fig. 32.40b: Ambiguous genitalia
Fig. 32.39: Hydrocele
Ambiguous Genitalia (Figs 32.40a to g)

Definition
Ambiguous genitalia is present: (i) when the sex of an
infant is not readily apparent after examination of the
external genitalia or (ii) when a gender role cannot be
assigned on the basis of the appearance of the external
genitalia alone (e.g. microphallus in an apparent male,
Fig. 32.40c: Ambiguous genitalia
245
Fig. 32.40d: Over-masculinisation in a male child with CAH

Fig. 32.40g: Ambiguous genitalia in male-pseudohermaphroditism
labial gonads in an apparent female or bifid penis and

scrotum associated with exstrophy of the bladder.
Etiology
Fig. 32.40e: Ambiguous genitalia in male-pseudohermaphroditism
The ambially of sex is the consequence of either excessive

exposure to androgens in a female fetus (female
pseudohermaphroditism) or inadequate androgenic
action in a male fetus (male pseudohermaphroditism).
Rarely it can result from dysgenetic gonads or true
hermaphroditism in which both testicular and ovarian
tissue are present along with germ cells of both sexes.
This is shown in the following table (Table 32.17).
Table 32.17: Etiology and types of ambiguous genitalia
Female pseudohermaphroditism:
Androgen exposure from fetal source, example: congenital
adrenal hyperplasia, etc.
Androgen exposure from maternal source, example:
virilizing ovarian tumors.
Undetermined origin of androgens
Male pseudohermaphroditism:
Defects in testicular differentiation
Deficiency of testicular hormones
Defects in androgen action
- True hermaphroditism
XX
XY
XX/XY chimeras
Fig. 32.40f: Ambiguous genitalia in male-pseudohermaphroditism
Modified and adapted from Rapaport R. Disorders of the

gonads. Behrman RE, Kliegman RM, Jenson HB (eds).
Nelson Textbook of Pediatrics 16th edn. W.B. Saunders
Company : Philadelphia.
246
Assignment of Sex
It constitutes a medical emergency in the labor room.
This has to be made with meticulous care and with prior
knowledge of karyotypic sex, gonadal sex, hormonal
milieu to which the fetus was exposed in utero, and
postability of surgical correction. One such initial
approach is given below:
Fig. 32.41b: Hypospadiasis
to a fibrous band called chordee, which extends from

the urinary meatus to the tip of the penis.
RECTOVESICAL FISTULA (FIG. 32.42)

Hypospadiasis (Figs 32.41a and b)
Is a common anomaly that occurs one in 300 newborn
males. There is an abnormal location of the external
urinary meatus on the ventral surface of the penis.
Depending on the location of external meatus,
hypospadiasis is classified as: (1) glandular (glans),
(2) coronal (shaft), (3) penile (4) peno scrotal and
(5) perineal. The prepuce is hooded and is present on
the dorsal side. The penis is usually curved ventrally due
Rectovesical fistula is usually associated with severe

urinary tract anomalies and predisposes for hazards of
urinary tract infections.
Fig. 32.42: Rectovesicular fistula presenting with

passage of meconium through the urethra
CONGENITAL VAGINAL OCCLUSION

(FIG. 32.43)
Fig. 32.41a: Hypospadiasis
This condition usually presents in adolescence with

primary amenorrhea. Less commonly it can present in
neonatal period when secretions by the foetal cervical
Fig. 32.43: Vaginal atresia
247
Fig. 32.44a: Bifid scrotum. Note also imperforate anus
and vaginal mucosal glands stimulated by maternal

oestrogens leads to development of hydrocolpos.
MISCELLANEOUS ANOMALIES OF
EXTERNAL GENITALIA (Figs 32.44 a and b)
Some of the rare congenital malformations like accessory testis and bifid scrotum are shown in the pictures.
TERATOMAS (Figs 32.45a to g)

These are the most frequent perinatal neoplasms, that
contain more than one of the three germ layers and
tissue elements that are foreign to the site of origin.
About 50% of teratomas occurring in infancy and
childhood present in the neonatal period. Among these,
40-50% occur in the sacrococcygeal region. Other sites
of occurrence are, head and neck, brain, mediastinum,
retroperitoneum, abdomen and spinal cord.
Sacrococcygeal Teratoma
Fig. 32.44b: Accessory testesa rare anomaly
Occurs once in 40,000 births, mostly in females (80%).

It is a tumor arising from primitive knot or Hansens
node, an aggregation of totipotent cells.
3. Predominant sacral component and external

extension
4. Presacral tumour with no external component
Four Types (Fig. 32.45d)
Type I and II Account for 80%
1. Protruding from perineal region covered by skin

with minimal presacral component
2. Predominant external tumor with a significant
presacral component
Histologically they may be

1. Mature or benign (55-75%) mostly cystic 72%.
2. Immature teratoma 11-28% mostly cystic 62%
3. Malignant teratoma 7-15% mostly solid
248
Fig. 32.45a: Teratoma cheek
Fig. 32.45d: Sacrococcygeal teratoma

anatomic classification
Fig. 32.45b: Teratoma X-ray. Retroperitoneal mass

displacing hydronephrotic right kidney
Fig. 32.45e: Sacrococcygeal teratoma
Bilateral Renal Agenesis (BRA)/ Dysplastic

Kidney (Fig. 32.46)
Fig. 32.45c: Teratoma. 20-day-old baby with right

retroperitoneal teratoma
Occurs 0.1-0.3 per 1000 births. Often it is an isolated

condition but less frequently may be a part of genetic
syndrome like chromosomal disorders (cat eye
syndrome, 4p- syndrome), autosomal recessive
disorders (Fraser syndrome, cerebrooculofacio-skeletal
syndrome, and associated mandibular syndrome)
autosomal dominant syndrome (broncho-otorenal
Fig. 32.45f: Sacrococcygeal teratoma
Fig. 32.45g: Sacrococcygeal teratoma
syndrome, Mullerian duct anomalies and renal

agenesis).
Non-mendalian disorders like TEF, VATER
association, congenital cystic adenomatus malformation
may be associated. Non-syndromic bilateral renal
249
Fig. 32.46: Dysplastic kidneys
agenesis can occur as AR, AD, XLR and multifactorial

disorders.
BRA is associated with Potter sequence, (Potter
syndrome or oligohydramnios sequence) which include:
1. Pulmonary hypoplasia
2. Typical facelow set ears, redundant skin, prominent fold arising at inner canthus of each eye,
parrot beak nose and receeding chin
3. Abberant hand and foot positioning, bowed legs,
clubbed feet and hip dislocation.
Severe oligohydramnios is thought to be responsible
for this phenotype.
Associated anomalies may involve adjacent genital
malformation to sirenomelia and multiple unrelated
anomalies involving heart, CNS, face, etc.
Antenatal diagnosis rests on absence of fetal bladder,
bilateral absence of the fetal kidneys and oligohydramnios.
250
Renal Cystic Diseases (Figs 32.47a to i)

This entity includes autosomal dominant and autosomal
recessive polycystic kidney diseases, and is characterized
by presence of cysts in both kidneys, no evidence of
dysplasia, and continuity of lumen of nephron from the
uriniferoces space to the urinary bladder.
(c)
Fig. 32.47a: Infantile polycystic kidney disease. Grossly

bilaterally enlarged kidney and liver. Inheritance is AR. This
has to be differentiated from cystic dysplastic kidneys and
adult AD polycystic kidney disease with early onset by detailed
histological and DNA studies
(d)
Figs 32.47c and d: Infantile polycystic kidney disease
antenatal scan
Fig. 32.47b: Infantile polycystic kidney disease. Note cystic

liver (vertically-placed arrow and enlarged cystic kidneys on
both side (horizontal arrows)
Fig. 32.47e: Infantile polycystic kidney disease. Histology of

bilateral polycystic kidney showing multiple cystic areas with
glomeruli
251
Fig. 32.47f: Infantile polycystic kidney disease
Fig. 32.47h: Infantile polycystic kidney diseaseUSG.

Note hyperechoic kidneys
Fig. 32.47g: Infantile polycystic kidney disease
Fig. 32.47i: Infantile polycystic kidney diseasepostmortem specimen
252
Autosomal recessive (infantile) polycystic kidney

disease. ARPKD is the most common renal cystic
disease seen in children with a frequency of 1.41 per
100,000 live births. The clinical features are listed in
the box. ARPKD has been shown to be due mutations
in both copies of short arm of chromosome 6.
Autosomal dominant polycystic kidney disease presents
later in life.
Oligohydramnios and its sequelae (Potter)
Large bilateral renal masses
Difficult delivery due to enlarged abdomen
Hypertension
Pneumothorax and pulmonary hypoplasia are usual
complications
Renal failure is rare in newborn period
Mild hepatomegaly due to fibrosis.
Renal ultrasound: Large kidneys with increased
echogenicity and multiple cysts. However, this cannot
differentiate from other renal cystic masses. But the
demonstration of liver cysts and/or periportal fibrosis is
highly suggestive. Prenatal diagnosis is possible by 24
weeks of gestation but cannot differentiate from other
simulating conditions.
Abdominal Mass in the Newborn Period
A differential diagnosis of abdominal mass is given in
Table 32.18.
Table 32.18: Causes of mass per abdomen
Cystic
Solid
Hydronephrosis
Multicystic dysplastic kidney
Adrenal hemorrhage
Pancreatic cyst, duplication
Choledochal cyst
Hydrometrocolpos
Ovarian cyst
Mesenteric / omental cyst
Intestinal duplication
Neuroblastoma
Teratoma
Mesoblastic nephroma
Wilms tumor
Hepatoblastoma
Hemangioma (liver)
Hamartoma (liver penc)
Infantile polycystic kidney
Obstetric history for polyhadramniosintestinal

duplication (due to some degree of obstruction)
Potters faciesurinary tract obstruction
Retinal angiomasvon Hippel-Lindau causing
pancreatic and renal cysts.
Subcutaneous massesneuroblastoma
Cutaneous hemangiomahepatic vasicular lesions
HYDRONEPHROSIS (Figs 32.48a to d)

Hydronephrosis is an abnormal dilatation of pelvicalyceal, usually resulting from obstruction at various
levels (obstructive uropathies). Obstruction could be
due to posterior urethral valves, uretero-pelvic junction
obstruction, uretero-vesicular junction obstruction.
Occasionally hydronephrosis can result from vesicoureteric reflux, megacystic-megaureteric syndrome,
cloacal or bladder exstrophy, ectopic ureterocele and
intra-abdominal masses causing compression.
Wilms Tumor (Figs 32.49a to d)
This tumor arises from pluripotent embryonic renal
precursor cells. This tumor is rare in newborns; a renal
mass in a neonate is more likely a congenital
mesoblastic nephroma or a malignant rhabdoid tumor.
The peak age at diagnosis is 2-3yrs. But, rarely they
are present before birth causing dystocia. The main
presenting features in the neonatal period are mass per
abdomen and hematuria (micro/macroscopic).
History and Examination: Important Points

Always ask family historyfor infantile polycystic
kidney
Obstetric history for oligohydramniosurinary tract
obstruction
Fig. 32.48a: Hydronephrosis USG. Bilateral

hydronephrosis due to PUV (posterior urethral valves)
(b)
Fig. 32.49a: Wilms tumor
(c)
(d)
Figs 32.48b to d: Antenatal scan hydronephrosis. Stomach
(s), kidney (k), pelvis (p), calyces(c), right kidney (rk)
Fig. 32.49b: Wilms tumorgross appearance
253
254
Hypertension is rarely observed unlike in older
children. Most of these tumors are sporadic with only
1% being familial.
Neuroblastoma (Fig. 32.50)
Fig. 32.49c: Wilms tumor

Cut section: Hemorrhage necrosis and fleshy appearance
Wilms tumor can be associated with hemi hypertrophy and
aniridia. In bilateral case there is a strong genetic basis.
Small deletions of the short arm of chromosome 11 can
produce. WAGR (Aniridia, Wilms tumor, genital anomalies
and mental retardation)
It is the most common malignant tumor in infants. This

tumor arises from neural crest cells and can originate
anywhere along the sympathetic chain or the adrenal
medulla. In the newborn period adrenal gland is the
commonest (47%). The clinical manifestation depends
on the site of primary tumor and the extent of
dissemination. Its presentation is different in the
neonatal period. Hepatomegaly (64%) and subcutaneous nodules (32%) form the commonest mode of
presentation and biochemical tests include measurement off catecholamine metabolites in urine which has
been proposed as a newborn screening method as well.
The majority of neonates have metastasis at the time
of diagnosis however, the sites of metastasis are different
compared to older children (Table 32.19).
Fig. 32.50: Neuroblastoma

Table 32.19: Incidence of metastases
Liver65%
Subcutaneous32%
Bone marrow10%
Lung6%
Spleen6%
Kidney6%
Pancreas6%
Fig. 32.49d: Wilms tumor: Soft tissue shadow on the
right pushing intestine to left
Modified and adapted from: Scheider KM, Becker JM, Krasna

IH. Neonatal neuroblastoma. Pediatrics 1965; 36: 259-366.
255
Fig. 32.51: Chronic myeloid leukaemia (CML)
Miscellaneous Abdominal Tumor (Fig. 32.51)

Some are neoplastic masses can present in the neonatal
period. One such example of CML is shown in the
picture with large spleen.
Anomalies of Extremities
Polydactyly (Figs 32.52a to d)
Polydactyly denotes presence of extra digits. It can be
inherited as an isolated malformation (AD) or as part
of a recognized syndrome. The list of some of the
syndromes associated with polydactyly is given below
Three terms are commonly used in association with
polydactyly.
Radial polydactylyduplication of the thumb
Central polydactylyduplication of the index,
middle and ring fingers
Ulnar polydactylyduplication of little finger
Postaxialsame as ulnar polydactyly
Preaxialduplication of thumb and central digits.
Common
Figs 32.52a and b: Polydactyly. Post-axial polydactyly of

hands and feet with associated skin tag
Uncommon
Carpenter syndrome
Blooms syndrome
Ellis-van Creveld syndrome
Goltz syndrome
Conradi-Hnermann syndrome
Trisomy 13
OFD syndrome
Short rib polydactyly syndrome Rubinstein-Taybi syndrome
Polysyndactyly syndrome
SLO syndrome
Partial trisomy 10q syndrome
Trisomy 4 p syndrome
Laurence-Moon-Biedl syndrome
KTW syndrome
Fig. 32.52c: Polydactyly. Note preaxial polydactyly
256
Fig. 32.52d: Polydactyly. Note preaxial polydactyly and

associated radial dysplasia
Syndactyly (Figs 32.53a and b)

It is a term used to denote webbing of fingers. Its
incidence is stated to be 1 in 2000. In about half of
the cases, it is bilateral. Twenty percent are familial,
remaining sporadic. In the hand syndactyly between
middle and ring fingers is the commonest type. In the
feet, it commonly involves 2nd and 3rd toes. The
syndromes and other associated anomalies with
syndactyly are given below.
Some terms associated with syndactyly:
1. Incomplete syndactyly: The interconnection does
not extend till the tips.
Fig. 32.53b: Syndactyly. Note associated hypoplastic nails
2. Complete syndactyly: The interconnection extends

till the tips.
3. Simple syndactyly: Only skin and fibrous tissues form
the interconnection
4. Complex syndactyly: Presence of bony union
anywhere between digits
5. Complicated syndactyly: Syndactylies with
disorganized and abnormal neural, muscular,
vascular and bony elements.
6. Acrosyndactyly: Fusion of distal parts of digits with
free proximal parts
7. Polysyndactyly: Polydactyly + syndactyly.
Common syndromes:
Polands syndrome
Apert syndrome
Anomalies associated
CHD
Orodigital anomalies
Oculodigital dysplasia
Skeletal disorders
Congenital Talipes Equinovarus (CTEV)

(Figs 32.54a to d)
Fig. 32.53a: Polysyndactyly
Has five elements (a) Equinus at the ankle (plantar

flexion), (b) Varus of the sub-talar joint (medial
rotation) (c) Adduction of the fore feet (d) Cavus
deformity with heightened arch, and (e) in some cases
internal rotation of the tibia. It may be unilateral or
bilateral. In bilateral cases spine must be examined
for meningocele. CTEV can occur as an isolated
257
Fig. 32.54c: Congenital talipes equinovarus in a case of

whistling face syndrome
Fig. 32.54a: Congenital talipes equinovarus
Fig. 32.54b: Congenital talipes equinovarus in a case of

Larsen syndrome
Fig. 32.54d: Congenital talipes equinovarus in a case of

Schwartz-Jampel syndrome. Note inguinal hernias, bilateral
equinovarus, micropenis and narrow palpebral fissures
258
deformation due to uterine constraints in oligohydramnios or may be a part of various sequences and
syndromes like meningomyelocele, Pena-Shokeir
syndrome, arthrogryposis multiplexa congenita (Table
32.20).
Incidence
1. One case per 1000 live births.
2. More common in males (2:1 is the male: female
ratio).
3. 50% of cases will have bilateral involvement.
Risk for next sibling is 3%
Fig. 32.56: Hammer toe
Table 32.20: Syndromes featuring CTEV

Amyoplasia congenita disruptiva sequence,
Diastrophic dwarfism,
Distal arthrogryposis,
Escobar syndrome,
Femoral hypoplasia, unusual facies syndrome,
Freeman Sheldon syndrome,
Larsen syndrome,
Meckel Gruber syndrome,
Triploidy syndrome,
Pena Shokeir syndrome,
Zellweger syndrome,
4p, 9p, 13q, 18q delition syndromes.
Rocker Bottom Foot (Fig. 32.55)

This defect is characterised by a prominent heel with
a convex sole seen in trisomy 18, 18q- syndrome and
COFS syndrome. It is due to a prominent calceneus.
HAMMER TOE (Fig. 32.56)

Hammer toe results from flexion deformity at the
proximal interphalangeal joint and extension at
metatarsophalangeal joint. It is usually bilaterally
symmetrical and most commonly involves 2nd toe.
Arthrogryposis Multiplexa Congenita (AMC)
(Figs 32.57a to c)
In this condition multiple joint contractures are present
at birth. It is the consequence of neurologic, muscular
contraction and skeletal abnormalities or due to
intrauterine crowding (Table 32.21).
Table 32.21: Conditions that cause AMC
Congenital myasthenia gravis
Congenital neuropathy
Amyoplasia
Congenital muscular dystrophy
Congenital myotonic dystrophy
Various congenital myopathies
Disorder of brain development
Disorder of development
Disorders of developing medulla
Developmental Dysplasia of Hip (Fig. 32.58)
Fig. 32.55: Rocker bottom foot seen in Trisomy 18 and

other syndromes
This condition describes abnormal relationship between

femoral hand and acetabulum. It includes dislocation,
partial dislocation, instability and many radiographic
abnormalities of development of acetabulum. It is very
important to detect a dislocated hip early in life as the
treatment is more simple and effective.
259
Fig. 32.57c: Distal arthrogryposis
Fig. 32.57a: Distal arthrogryposis distal congenital contractures clenched hands with medial; overlapping of fingers
at birth
Fig. 32.58: Congenital dislocation of hip
Examination to Detect Hip Instability
Fig. 32.57b: Arthrogryposis multiplex congenita
The newborn should be relaxed and must be placed

on a firm surface. Inspect for limb length discrepancy,
asymmetrical thigh or gluteal folds and restricted
movements.
The Ortolani test: this detects the sensation of
dislocated hip reducing
Newborn supine
Examiners index and middle fingers along greater
trochanter and thumb, along inner thigh.
260
Table 32.22: Types of albinism
Type
Other features
Inheritance
Tyrosinase negative oculocutaneous

Tyrosinase positive oculocutaneous
Yellow mutant
Ocular
Hermansky-Pudlak syndrome
Chdiak-Higashi syndrome
Cross syndrome
Bleeding diathesis
Neutropenia, increased infections
Ocular anomalies, spasticity and retardation
A.R.
A.R.
A.R.
X.L.R.
A.R.
A.R.
A.R.
Flex hip to 90o

Abduct the hip while lifting the bone anteriorly
Clunk is felt if dislocated head reduces into the
acetabulum.
The Barlows test: This detects whether hip is dislocatable
or not.
Newborn supine, hip flexed to 90o
Abduct the leg, while exerting posteriorly directed
pressure on knee
A palpable clunk is felt if femoral head dislocates.
Albinism (Figs 32.59a to e)
Albinism is a condition comprising a variety of clinical
syndromes with a hereditary defect in the metabolism
of melanin that results in congenital hypopigmentation
of the skin, hair and eyes (oculocutaneous albinism) or
primarily limited to the eyes (ocular albinism). All forms
of albinism will have ocular abnormalities which include
foveal hypoplasia, nystagmus, and decreased visual
acuity. The different types and their inheritance are
Fig. 32.59a: Oculocutaneous albinism in a newborn
Fig. 32.59b: Brown albin
Fig. 32.59c: Oculocutaneous albinism
261
Fig. 32.60: Harlequin baby with its twin
Harlequin Syndrome (Fig. 32.60)

Fig. 32.59d: Albin mother and her child
Fig. 32.59e: Albin children with normal parents
Harlequin syndrome is a lethal form of congenital

icthyosis inherited as an autosomal recessive trait,
characterized by massive over-growth of keratin layers
of skin resulting in parchment like skin and clown-like
appearance (hence the name Harlequin fetus).
The mouth has severe eclabion with a fixed O
shaped fish mouth deformity. The nose is tiny, eyes
protuberant and micrognathia.
Extremities show fixed flexion deformities with
shorten hands and feet. Intrauterine diagnosis is done
by fetal skin biopsy and fetoembryoscopy. In few
instances, midtrimester ultrasound diagnosis has been
made by noting flexion contractures of limb and limited
movements. Fixed open mouth micrognathia and
IUGR and snow flake appearance of amniotic fluid are
prenatal, US findings.
After birth, affected neonates die of respiratory
difficulty, poor suking and skin infection.
The basic defect is an abnormality of lamellar
granules, which have an important role in
desquamation. This syndrome represents several
genotypes with similar clinical manifestations and one
type has the gene on chromosome 11.
Most affected newborns are still born or die in days
or weeks but occasional survival beyond infancy is
262
reported, where skin lesions become less prominent and

are converted to ichthysioform erythroderma.
Collodion Baby (Figs 32.61a and b)
The term Collodion baby designates a rare
dermatologic abnormality of the newborn in which the
body appears to be covered with generalized glistening,
taut, yellowish film termed collodion membrane. This
condition is not a separate disease entity in itself, but
represents a precursor of a disorder of epidermal
development in the majority of cases. These babies look
alike at birth, but later take different clinical courses.
The membrane distorts their facial features and causes
pseudocontracture of the digits. Most of them evolve
into different types of congenital ichthyosis, but about
10% heal spontaneously within the first few weeks, in
which case the term self-healing collodion baby is used.
But it is usually not possible clinically to establish the
diagnosis in the immediate neonatal period and predict
the outcome. In general, the collodion membrane
dessicates, fissures around the joints and is usually shed

within 1-4 weeks. Thus ,clinically only observation over
few weeks will reveal the ultimate fate of the skin.
The collodion membrane is associated with impaired
epidermal barrier function resulting in increased
transepidermal heat and water loss. As a result,
hypothermia, dehydration, hypernatremia, renal failure
are consequent problems. Hyperpyrexia can also
develop if ambient temperature is high. Eroded and
fissured membrane is more prone for infection and
bacterial sepsis is a constant threat. Renal failure and
sepsis are two common causes of death in the neonatal
period. Thus good supportive management till the
condition takes its final shape assumes greater
importance in the neonatal period. Babies should be
nursed in humidified incubators to maintain euthermia
and hydration. Electrolyte levels should be monitored
regularly, specifically looking for hypernatremia. Skin
care includes aseptic handling and application of
emollient like soft paraffin. The long term out look
depends on which types of ichthyosis develops.
Milroy Disease (Fig. 32.62)
It is an autosomal dominant disorder characterized by
lymphatic edema over dorsum of feet and extending
Fig. 32.61a: Collodion baby
Fig. 32.61b: Collodion baby. Note Collodion like skin

abnormal skin usually peels off to give good recovery limited
joint movement
Fig. 32.62: Milroys disease with Lymphedema

extending to genitalia
upto knee. Occasionally seen in upper limbs and over
genitalia as in the figure. Initially it may be slightly
pitting but later it hardens.
Lymphatic edema may be seen over lower limbs in
Turners syndrome, Noonan syndrome and in
congenital lymphangiectasis. In congenital lymphangiectasis these may be lymphangiectasis in intestine causing
protein lossing enteropathy, in renal system causing
chyluria and in lungs causing chylothorax, etc.
263
Fig. 32.64a: Hypothyroidism. A neonate with

hypothyroidism same child after treatment
HAMARTOMATUS NEVI (FIG. 32.63)

The term hamartoma refers to an excessive but focal
overgrowth of cells and tissues native to the organ in
which it occurs. The cells are mature in nature. They
can occur in any tissue, anywhere in the body. They
can be thought of as a link between malformations and
neoplasms. But they are always benign.
Fig. 32.64b: Hypothyroidism
Fig. 32.63: Nevus hamartomatus
Those hamartomas arising from the skin are

responsible for hamartomus nevi and contains blood
vessels, lymphatics and skin cells that are native to the
organ. They are more common in infancy probably
representing developmental aberration.
Hypothyroidism (Figs 32.64a to c)
Classic clinical features of congenital hypothyroidism are
usually absent at birth and appear gradually over first
few weeks, with most features becoming apparent at
about 6 weeks. Nevertheless presence of these features
in the neonatal period should alert the physician to
Fig. 32.64c: Hypothyroidism. Note absence of upper tibial

and lower femoral ossification center
264
suspect hypothyroid state, especially in our country

where routine screening is not in practice. Other classic
features develop in the following weeks. Also given
below are the features and causes (Table 32.23).
Macrosomia (>4 kg)
Wide anterior and posterior fontanels (> 0.5 cm)
Prolonged physiologic jaundice
Feeding difficulties
Hypoactivity
Hypotonia
Hypothermia with mottle skin in the extremities
Periorbital cyanosis
Somnolence
Fig. 32.65: Epidermolysis bullosa litialis in an older child
Table 32.23: Etiology of congenital hypothyroidism

Permanent hypothyroidism
Due to thyroid abnormalities (primary hypothyroidism)
Developmental defects
Thyroid agenesis/dysgenesis
Thyroid hypoplasia
Ectopic thyroid
Dyshormonogenesis (inborn errors of thyroid
hormone biosynthesis)
Due to extrathyroidal abnormalities
Hypothalamopituitary abnormalities (secondary or
tertiary hypothyroidism)
Peripheral resistance to thyroid hormones
General
Isolated pituitary
Extrapituitary
Transient neonatal hypothyroidism
Transient hypothyroxinemia
Transient primary hypothyroidism
Transient hyperthyrotropinemia
Low T3 syndrome
Iodine deficiency
Adapted from: Dattani M et al. Current Opinion in Pediatrics
1996;8:389-393
Fig. 32.66: Congenital absence of ribs
Epidermolysis Bullosa (Fig. 32.65)

This is a heterogenous group of heritable blistering
conditions. The various forms are shown in the text box.
CONGENITAL ABSENCE OF RIBS

(FIG. 32.66)
Congenital absence of ribs results due to an arrest of
normal development. It may occur as an isolated
Nonscarring
- EB simplex (AD inheritance)
- Junctional EB (AR inheritance)
Scarring
- Dominant dystrophic EB (AD inheritance)
- Recessive dystrophic EB (AR inheritance)
anomaly or may be associated with the following
syndromes:
Ring chromosome-13
Tetrasomy-9P
Monosomy-20P
Deletion of long arm of chromosome-1
Congenital CMV infection
Cleidocranial dysostosis
Acrofacial dysostosis.
BIBLIOGRAPHY
1. American Academy of Pediatrics Committee on quality
improvement. Clinical practice guideline: Early detection
of developmental dysplasia of the nip pediatrics 2000 ;
105: 986.
2. Cancer 1981; 48: 217.
3. Frieden IJ. Aplasia cutis congenita: A clinical review and
proposal for classification. J Am Acad Dermatol 1986; 14:
646-60.
4. Golden CB, Feusner JH. Malignant abdominal masses in
children: Quick guide to evaluation and diagnosis. Pediatr
Clin N Am 2002; 49: 1369-92.
5. J Pediatr Surge 1974; 9: 391.
6. Kays DW. Surgical condition of the neonatal intestinal tract.
Clin Perinatol 1996; 23: 353-75.
7. Kulkarni ML, Mathew A. Neural tube closure. Indian
Pediatr 1996; 33: 872-74.
8. Kulkarni ML, et al. Limb body wall complexia case report
and review of literature. Perinatology 2003; 5: 91-94.
9. Kulkarni ML, Mathew Kurian. Consanguinity and its effect
on foetal growth and development. J Med Genet 1990;
27: 348-52.
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10. Kulkarni ML, Mathew MA, Ramachandran B. High

incidence of neural tube defects in South India. Lancet
1987; 1: 1-60.
11. Kulkarni ML, Mathew MA, Reddy V. The range of neural
tube defects in Southern India. Arch Dis Child 1989; 61:
201-04.
12. Kulkarni ML, Naseer A. Otocephaly. Annals of Dentistry
1995; 54 (1-2): 50-52.
13. Kulkarni ML, Singh R. Normal variants of skin in neonates.
Ind J Dermat Venerol Leprol 1996; 62: 83-86
14. Kulkarni ML, Sureshkumar C. Prenatal diagnosis of NTD.
Indian Practitioner 1992 XIV (12): 1033-36.
15. Kulkarni ML, Sureshkumar C. Prenatal diagnosis of NTD.
Pediatric Clinics of India 1993; 28 (4).
16. Kulkarni ML, Venkataramana V, Sureshkumar C.
Syndromic and isolated cryptophthalmos. Indian Pediatr
1995; 32: 1112-15
17. Kulkarni ML. Congenital malformations. The Indian
Practitioner 1994; XLVIII: 137-42.
18. Kulkarni ML. Congenital malformations. Editorial Indian
Pediatr 1989; 26:5-10.
19. Meller JL, Reyes HM, Loeff DS. Gastroschisis and
omphalocele. Clin Perinatol 1989 ; 16: 113-22.
20. Nakayama DK, et al. The pathogenesis of prune belly. Am
J Dis Child 1984; 138: 834-36.
21. Scheider KM, Becker JM, Krasna IH. Neonatal neuroblastoma. Pediatrics 1965; 36: 259-66.
22. Tapper D, Lack EE. Teratomas in infancy and childhood.
A 54 years experience at the childrens hospital medical
center. Ann Surge 1983; 198: 398-409.
23. Wilcox DT et al. Prenatal diagnosis of congenital
diaphragmatic hernia with predictors of mortality. Clin
Perinatol 1996; 23: 701-09.
266
33
Genetic Syndromes
INTRODUCTION
Approximately 1% newborns have multiple anomalies
or syndrome. Only 40% of them have recognizable
syndrome and remaining need further evaluation. The
word syndrome means, running together (Greek) and
clinically indicates a constellation of malformations
thought to be pathogenetically related (Tables 33.1 to
33.6).
Table 33.1: Malformation syndromes following
autosomal recessive inheritance
Bardet-Biedl syndrome
Camptomelic dysplasia
Cerebrooculofacio-skeletal (Pena-Shokeir) syndrome (some
families)
Chondrodysplasia punctata (rhizomelic type)
Cockayne syndrome
Cohen syndrome
Cryptophthalmos (Fraser) syndrome
Dubowitz syndrome
Ellis-van Creveld syndrome
Fryns syndrome
Holoprosencephaly (some families)
Hydrolethalus syndrome
Johanson-Blizzard syndrome
Leprechaunism
Marden-Walker syndrome
Meckel syndrome
Mohr syndrome (orofaciodigital syndrome type II)
Multiple pterygium syndrome
Neu-Laxova syndrome
Popliteal pterygium syndrome (lethal)
Roberts syndrome
Seckel syndrome (bird-headed dwarfism)
Werner syndrome
Clinical Approach to a Dysmorphic Child

The clinical approach begins with a careful history. A
proper pedigree chart of at least three generations
should be constructed. Maternal and antenatal histories
must be carefully reviewed. Following tables give a
deeper and a better understanding of the importance
of these aspects.
autosomal dominant inheritance
Beckwith-Wiedemann syndrome (some families)

EEC syndrome (ectodactyly-ectodermal dysplasia-clefting)
Freeman-Sheldon (whistling face) syndrome
Holt-Oram syndrome
Leopard syndrome
Mandibulofacial dysostosis (Treacher Collins syndrome)
Melnick-Needles syndrome (osteodysplasty)
Nail-patella syndrome
Noonan syndrome (some families)
Robinows (fetal face) syndrome
Stickler syndrome

X-linked inheritance
Aarskog syndrome (faciogenital dysplasia)
Coffin-Lowry syndrome
Corpus callosum agenesis with retinal defects (Aicardi
syndrome) (dominant, lethal in male)
Ectodemral dysplasia, hypohidrotic
FG syndrome
Focal dermal hypoplasia (dominant, lethal in male)
Lenz microphthalmos syndrome
Orofaciodigital syndrome, type I
Otopalatodigital syndrome
Genetic Syndromes 267

Table 33.4: Malformation syndromes in which
recurrence in sibs is rare
Amniotic bands syndrome

Goldenhar syndrome
Hemifacial microsomia
Klippel-Trenaunay-Weber syndrome
McCune-Albright (fibrous dysplasia) syndrome
Polands syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome
Sacral agenesis (caudal regression syndrome)
Sturge-Weber syndrome
Weaver syndrome
Table 33.5: Importance of maternal and antenatal history

Elderly motherchromosomal aneuploidy, e.g. Down
syndrome
Elderly fathernew autosomal dominant mutation, e.g.
achondroplasia, Marfans syndrome
Maternal diabetescaudal regression syndrome
Maternal drugsfetal alcohol, valproate, and hydantion
syndromes
Parental consanguinityautosomal recessive disorders
Racial origine.g. Ellis-van Creveld syndrome in the Anish
Familial occurrencesingle gene, polygenic, and
chromosomal disorders
Early rupture of membranefetal deformation and
disruption
OligohydramniosRenal agenesis, outflow obstruction
Polyhydramniosesophageal atresia, anencephaly, and
neuromuscular disorders.
Poor fetal movementsfetal compression, neuromuscular
disorder
Breech presentationneuromuscular disorder
Physical Recognition of Syndromes

After meticulously reviewing the history, syndrome
delineation is usually attempted by two means:
a. Gestalt recognitionHere the individual syndrome
can be easily organized into a meaningful problem
without consciously analysis the individual
abnormalities, e.g. Down syndrome.
b. By identifying suitable handles: When immediate
recognition is not possible, it is necessary to identify
one or more features (handles) which might lead
to syndrome diagnosis. Certain useful handles are
shown below.
Mental retardation, simian crease, clinodactyly are
nonspecific and are poor handles. Once suitable handles
are identified, syndrome delineation can be attempted
by using monograms on syndromes, e.g. KL Jones,
1997 Smiths recognizable patterns of Malformation
W.B Saunders, Philadelphia; or computer databases,
e.g. London Dysmorphology Database and London
Neurogenetic Database published by Oxford University
Press, Walton street. Oxford Ox2 6DP UK; or Possum
syndrome and skeletal dysplasia database. Murdoch
Institute, Royal Children Hospital. Flemington Road,
Parkville Victoria 3053, Australia.
FURTHER READING
1. The London Dysmorphology Database.
2. Birth Defects Information Services.
3. POSSUMAn Illustrated Database with Clinical
Photographs on Videodisk.
Table 33.6: Useful handles for syndrome identification

Head
Abnormal hair patter
Scalp defects
Craniosynostosis
Encephalocele
Mouth
Cleft lip/palate
Teeth abnormalities
Eyes
Genitalia
Micropenis
Coloboma
Small/absent eyes
Cataract
Digits
Syn/polydactyly
Arachnodactyly
Brachydactyly
Skin
White patch
Pigmented patch
Limbs
Absence
Webbing
Dwarf
Ears
Deafness
Malformed
Preauricular tag
268
CHROMOSOMAL ABNORMALITY
Trisomy 21 (Downs syndrome) (Figs 33.1a1-9)
It is the commonest chromosomal disorder occurring
once in 700 births, characterized mainly by mental
retardation and characteristic facial and other abnormalities. Characteristic facial features viz. microbrachycephaly, upslanting palpebral fissures, small malformed
ears, lax skin at neck, alopecia, small hands and fingers,
clinodactyly of little fingers, simian crease, wide gap
between first and second toes and plantar crease
between first and second toes, cardiac defect in 40%
(endocardial cushion defects), relatively small penis in
boys and bulbous vulva in females, cataract, duodenal
atresia and anal atresia, hyperbilirubinemia, transient
leukemoid reaction and leukemia are some of the
features in newborns (Tables 33.7 to 33.9).
Identification of Downs syndrome in neonatal
period is rather difficult but following features help in
recognizing the syndrome: 1) hypotonia 2) poor Moros
reflex 3) hyperflexibility of joints 4) excess skin over
back of neck 5) flat facial profile 6) slanted palpebral
Fig. 33.1a(2): Downs syndrome
Fig. 33.1a(3): Downs syndrome. Downs syndrome in newborn brachymicrocephaly, flat face, upslant eyes, protruding
tongue, thin sparse hair
Fig. 33.1a(1): Downs syndrome. Note brachycephaly

upslanting eyes, narrow palpebral fissure, small nose, small
ears and cutis marmorata
Fig. 33.1a(4): Downs syndrome. Flat facial

profile, frontal alopecia
Fig. 33.1a(5): Downs syndrome. Flat facial profile depressed

nasal bridge-small mouth, protruding tongue and cutis
marmorata loose fold of skin in the neck, medial epicanthal
fold is obvious
Fig. 33.1a(6): Downs syndrome: Note big space

between 1st and 2nd toes
Fig. 33.1a(7): Downs syndrome protruding tongue

showing glossitis
Fig. 33.1a(8): Downs syndrome. Elderly

mother with a newborn baby
Fig. 33.1a(9): Downs syndrome. Loose skin fold
fissures 7) anomalous auricles 8) dysplasia of pelvis

9) dysplasia of middle phalanx of fifth finger and simian
crease.
Downs syndrome occurs once in 700 births and is
due to trisomy of 21 in 95% of cases and due to
translocation between chromosome 21 and 14 in 4%
of cases and due to mosaicism in 1% (i.e. body is a
mixture of normal and 21 trisomic cells) the risk of
Downs syndrome goes on increasing with increasing
maternal age from 1:1500 at 15-30 years to 1: 270
at 35-40 years. Other risk figures are listed below.
Prenatal screening is done by maternal serum triple test
and is confirmed by CVS at 8-11 weeks of gestation.
270
Table 33.7: Risk figures in Downs syndrome
Risk
After one trisomic child (mother

aged under 37 years)
If mother aged over 37 years
1%
Double maternal
age risk
Mother is a 14/21 translocation carrier
10%
Father is 14/21 translocation carrier
2%
One parent a 21/21 translocation carrier 100%
Table 33.8: Surveillance for early detection
of problems in Downs syndrome children
At birth
Within
first year
Every year
Clinical examination and if necessary investigations for tracheo-oesophageal fistula,

duodenal obstruction and anal atresia.
Eye examination for cataract.
Chromosomal analysis
If translocation trisomy 21 is found, chromosome analysis of parents.
Thyroid stimulating hormone
Echocardiogram (within first week) clinical
examination and if necessary, investigations for
tracheo-oesophageal fistula, duodenal obstruction and anal atresia
Thyroid function tests (TSH1 T4)
Haemoglobin, serum iron
Hearing evaluation
Eye examination for squint, refraction, cataract
Thyroid function test
Non-fasting lipids
Auditory assessment
Eye examination
Development assessment, physiotherapy and
if needed speech therapy
Fig. 33.1b(1): Trisomy-13 low hair line, overlapping fingers,

polydactyly, abnormal ears, mental retardation in survivors
Table 33.9: Recurrence risk for translocation Downs

syndrome
Type
of
translocation
Risk of recurrence
Carrier mother
Carrier father
14q;21q
21q;22q
21q;21q
15%
15%
100%
5%
5%
100%
Trisomy 13 (Patau syndrome) (Figs 33.1b1-8)

Trisomy 13 occurs 1 in 20,000 births. The clinical
features include midline cleft lip/palate, polydactyly,
narrow hyper convex finger nails, broad flat nose,
malformed ears, small head, abnormal brain
Fig. 33.1b(2): Trisomy 13. Note scalp defect
(holoprosencephaly like defects), Microphthalmia,

congenital heart diseases, genitourinary anomalies,
hemangiomas over forehead, and scalp defects. The
condition is lethal in first few months of life.
Fig. 33.1b(3): Trisomy 13. Note midline cleft palate

Fig. 33.1b(6): Trisomy 13. With midline cleft lip and
palate with genital abnormality cryptorchidism
Fig. 33.1b(4): Trisomy 13. Note polydactyly with

overlapping fingers
Fig. 33.1b(7): Trisomy 13. Narrow palpebral fissure,

long philtrum, thin upper lip
Fig. 33.1b(5): Trisomy 13. Note scalp defects
Fig. 33.1b(8): Trisomy 13. Narrow palpebral fissure, thin

upper lip, long philtrum
272
Trisomy 18 (Edwards syndrome) (Figs 33.1c1-6)

This occurs once in 8,000 births and is characterized
by growth retardation, prominent occiput, clenched
hands (overlapping of index finger over 3rd, and 5th
finger over 4th), small pelvis with limited abduction of
hips, rocker bottom feet, microcephaly, micrognathia,
short sternum, cardiac defects (PDA, VSD and PS),
renal malformations, severe mental retardation, and is
mostly lethal in first year of life.
Fig. 33.1c(3): Edwards syndrome. Prominent occiput,

low set ears, small chin
Fig. 33.1c(1): Edwards syndrome.

Note rocker bottom foot
Fig. 33.1c(4): Edwards syndrome. Note small chin, low

set ears, short palpebral fissure
Fig. 33.1c(2): Edwards syndrome. Small chin low set ears,

prominent occiput, short palpebral fissure, short sternum
narrow pelvis, overlapping fingers, baby had congenital heart
disease, note growth retardation, note contractures at
multiple joints especially at hips
Fig. 33.1c(5): Edwards syndrome. Showing characteristic

clenched hand with overlapping of ring finger by little finger
and middle finger by index finger
Fig. 33.1d(2): Turners syndrome. With fluid collection in

neck in fetus
Fig. 33.1c (6): Edwards syndrome. Small chin, low set ears,
short palpebral fissure, short-sternum overlapping fingers.
Other features include cardia, renal, cryptorchidism and
severe MR
Turners Syndrome (Figs 33.1d1-6)

This is a syndrome of short stature and gonadal
dysgenesis in a phenotypic female due to either absence
of one X-chromosome (50%) or due to structural
abnormality of one of the X-chromosomes (50%). The
Fig. 33.1d(3): Turners syndrome. With congenital
lymphedema, hypoplastic nails. Other features include short
stature, shield chest, COA, horse-shoe kidney, low hair line,
webbing of neck
Fig. 33.1d(1): Turners syndrome.

Note bilateral cystic hygromas in a fetus
Fig. 33.1d(4): Turners syndrome. Loose skin over neck

(webbing)
274
Fig. 33.1d(5): Turners syndrome. Short stature,

congenital lymphedema
Fig. 33.1e(1): Wilms tumor gross appearance
Fig. 33.1d(6): Another case of Turners syndrome,

congenital lymphedema of dorsum of feet
incidence is one in 2,000 live females. The presentation

in neonatal period include small size, lymphedema over
hands and feet, cystic hygroma or, lax skin at the neck
(web), short neck, posterior hair line, broad chest with
widely-placed nipples, prominent ears, horse-shoe
kidneys, cardiac defects (bicuspid aortic valve, COA) etc.
Congenital edema disappears in infancy.
Aniridia Wilms (WAGR syndrome) Wilms
Tumor, Aniridia, Genital Abnormalities,
Retardation Mental (Figs 33.1e1-5)
There is an association between aniridia and Wilms
tumor. About 80% of Wilms tumor will have aniridia
Fig. 33.1e(2): Wilms tumor. Soft tissue shadow on the

right pushing intestine to left
and 20% of children with aniridia will develop Wilms

tumor (Friedman 1980). Anterior cataract is common
in aniridia. All children with aniridia should have abdominal palpation by mother and ultrasound examination
frequently till 5 yrs of age and less frequently later.
Interstitial chromosomal deletion involving band 11 p
13 is responsible for this syndrome. WAGR syndrome
includes ambiguous genitalia and mental retardation in
addition to aniridia and Wilms tumor. The disorder is
due to microdeletion of chromosome 11 and the gene
involved is PAX6WT1. Other related syndromes are
listed in Table 33.10.

Table 33.10: Syndromes related to the WT1 and WT2 loci
Syndrome
Locus
Genetic lesion
Phenotype
Wilms tumor risk
WAGR
11p13
Deletion of WT1 gene
Aniridia, genitourinary anomalies,

delayed-onset renal failure
30%
Denys-Drash
11p13
Point mutation in zincfinger region of WT1 gene
Ambiguous genitalia, diffuse

mesangial sclerosis
90%
Fraser
11p13
Point mutation in WT1

intro 9 donor splice site
Ambiguous genitalia, streak gonads,

focal segmental glomerulosclerosis
Low, but several

cases reported
BeckwithWiedemann
11p15
Precise genetic lesion unclear;

loss of imprinting of several
genes including IGF2, H19m
and p57kip2 implicated
Organomegaly, large birth weight,

macroglossia, omphalocele,
hemihypertophy, ear pits and
creases, neonatal hypoglycemia
5%
Fig. 33.1e(4): Wilms tumor cut section hemorrhage necrosis

and fleshy appearance Wilms tumor can be associated with
hemihypertrophy and aniridia. In bilateral case there is a
strong genetic basis. Small deletions of the short arm of
chromosome level can produce WAGR (aniridia, Wilms
tumor, genital anomalies and mental retardation)
Fig. 33.1e(3): Wilms tumor child
Cat Cry Syndrome/Cri du Chat Syndrome

(Fig. 33.1f)
It is a syndrome that results from deletion of tip of the
short arm of chromosome 5. The characteristic features
include primordial growth deficiency, cat like cry in early
infancy, microcephaly, with round flat face. The
characteristic high-toned, weak cry is found in 100%
of cases, and is due to abnormal laryngeal development. The cat like cry becomes less evident with age.
Fig. 33.1e(5): Beckwith-Wiedemann syndrome. Examphalos

upper abdominal distention due to liver enlargement ear
grooves
276
Fig. 33.1f: Cat cry syndrome. Mental retardation, cats like cry evident in infancy disappears in older child.
Note round flat face, hypertelorism
Deletion 9P Syndrome (Figs 33.1g1 and 2)

This syndrome results due to deletion of the distal
portion of the short arm of chromosome 9. The
characteristic shape of head results from premature
closure of metopic suture causing trigonocephaly. Other
features include, upslanting of palpebral fissure,
epicanthal folds, prominent eyes, arched eyebrows,
midfacial hypoplasia, short nose with anteverted nares
and long philtrum.
Fig. 33.1g(2): Deletion 9P syndrome. Craniostenosis

involving metopic sutures lead to trigonocephaly this was a
case of 9 p minus syndrome. It can also be seen in 11q
minus and 13 q minus syndromes
Duplication 10 q Syndrome (Figs 33.1h,i)
Fig. 33.1g(1): Deletion 9P syndrome. Note Trigonocephaly

due to premature fusion of metopic suture
Ptosis and short palpebral fissures, camptodactyly and

severe mental retardation are the important features of
this syndrome. It results from Trisomy of distal segment
of the long arm of chromosome 10 (10q 24 q ter).
Fig. 33.1h: Duplication 10 q syndrome. Note ptosis and short

palpebral fissures. Other features include camptodactyly and
severe mental retardation
Fig. 33.2a: Brachmann-de Lange syndrome. Note hairy

forehead, hairy ears, micrognathia, short and anteverted
nostrils, long and thin upper lips
from proximally placed thumb to absence and

ectrodactyly. Inguinal and umbilical hernias and
diaphragmatic hernia are common.
Gastrointestinal, renal, and genitourinary malformations occur more frequently. Inheritance is uncertain
probable location is 3q 26; 17q 23. Prenatal diagnosis
is possible by ultrasound demonstration of micromelia
commonly associated with diaphragmatic hernia and
reduced levels of PAPA in mothers serum in second
trimester. Neonates may have puffy eyes that disappear
after 1 week and eye features become prominent in
early childhood.
Russell-Silver Syndromes (Fig. 33.2b)
Fig. 33.1i: Normal karyogram
GROWTH RESTRICTION
Brachmann-de Lange Syndrome (Fig. 33.2a)
The characteristic features of this syndrome include
mental retardation, low birth weight, microcephaly,
short stature, generalized hirsutism, resulting in
synophrys, microphthalmia, a hairy forehead, hairy
ears, marked hair whorls on posterior trunk and arm
and micrognathia. The nose is short, nostrils anteverted
and flares, philtrum is long and upper lip is thin with
a midline breach. Feeding difficulties, irritability, a deep
horse cry and increased tone in limbs are early
problems. Upper limb defects are common and vary
Typical facies, short stature at birth, and asymmetry of

the limbs are main features of this syndrome. Head is
relatively big (pseudohydrocephalus). Face is small and
triangular with frontal bossing. Mouth is small with thin
lips and down turned corners, Prominent ears, simian
crease, clinodactyly wide anterior fontanelle, caf au lait
spots and teeth anomalies are other features. Excessive
sweating, syndactyly between the second and third toe,
hypoglycemia, delayed bone age, genital abnormalities
are minor anomalies associated. In most cases
intelligence is normal. Most cases are sporadic: however,
autosomal dominant inheritance, chromosomal
anomalies and uniparental disomy have been
suggested.
278
Fig. 33.2c(1): Johnson-Blizzard syndrome.

Note multiple caf au lait spots
Fig. 33.2c(2): Johnson-Blizzard syndrome. Note mildmicrocephaly, hypoplastic alae nasi, scalp defect, sparse hair,
frontal upsweep. Other features include hypothyroidism
pancreatic insufficiency and deafness, inherited as AR trait
Fig. 33.2b: Russell-Silver syndrome. Relatively-large head,

frontal bossing, triangular face, thin upper lip, sharp corners
of mouth, simian crease and clinodactyly, growth restriction
at birth skeletal asymmetry, syndactyly of second and third toes
Johnson-Blizzard Syndrome (Figs 33.2c1-2)

The prominent features are short stature of prenatal
onset, microcephaly, hypoplastic alae nasi and mid-line
scalp defects. The hair growth is unusual and is often
spiky. Mental retardation is a usual feature but often

mild. Thyroid deficiency, sensorineural deafness and
exocrine pancreatic deficiency lead to physical and
mental slowness. Congenital heart defects and genitourinary abnormalities may be associated. Antimongoloid
slant and caf au lait spots are other abnormalities.
Hallermann-Streiff Syndrome (Fig. 33.2d)
Frontal prominence thin pointed nose, small chin are
suggestive of this syndrome especially in presence of
microphthalmia and cataract. Nose and chin problems
can cause respiratory and feeding problems in neonatal
Fig. 33.2e(2): Smith-Lemli-Optiz syndrome. Note Microcephaly

with narrow frontal area, broad nasal root, long philtrum, and
low set ears, beaky nose
Fig. 33.2d: Hallemann-Streiff syndrome
period. Sparse eyelashes, dental anomalies, hypotrichosis, skin atrophy, short stature and occasional
congenital heart disease are other features.
Poor ossification of skull with the wormian bones,
large fontanelle, thin ribs, long bones and metaphyseal
widening may be seen in neonatal period. Neonatal
teeth may be seen. Small penis, cryptorchidism are
other features. Inheritance is uncertain.
Smith-Lemli-Optiz (SLO) Syndrome Type I
(Figs 33.2e1-5)
Facial features include microcephaly, bitemporal
narrowing with ptosis, anteverted nostril, a broad nasal
Fig. 33.2e(3): Smith-Lemli-Optiz syndrome. Note male

genital abnormality-hypoplastic penis, and scrotum
Fig. 33.2e(1): Smith-Lemli-Optiz syndrome.

Note strabismus
Fig. 33.2e(4): Smith-Lemli-Optiz syndrome.

Note hypoplastic genitals
280
Fig. 33.2e(5): Smith-Lemli-Optiz syndrome. Note microcephaly, ptosis, beaky nose, clenched hand, undescended
testis and mild talipes, longish philtrum. Inheritance is
autosomal recessive
tip, and micrognathia. In the hands, index finger

overlaps middle finger and the thumb can be short with
a short first metacarpal. Dorsiflexed big toes, and
syndactyly between second and third toes are common.
In males micropenis and hypoplastic scrotum are seen.
Short thumb, hypotonia, brain defects, seizures and
EEG abnormalities may be evident in newborn.
Inheritance is autosomal recessive.
Prenatal diagnosis is possible by measuring
dehydrocholesterol in amniotic fluids and chorionic
villus sample. Mutation in 7-dehydrocholesterol
reductase gene that converts 7- dehydrocholesterol into
cholesterol is responsible for the defect. The levels of
7-dehydrocholesterol will be high and that of
cholesterol will be low in patients with SLO
syndrome,and in amniotic fluid and CVS of pregnancy
with SLO syndrome.
There is another SLO type which is lethal in
newborns with similar features. Ambiguous genitalia,
postaxial polydactyly in hands, valgus deformity of feet
with syndactyly of several toes is characteristic.
Fig. 33.2f(1): Robinows syndrome. Note frontal bossing

hypertelorism. Prominent eyes long philtrum, small upturned
nose, triangular mouth with down turned angles and
micrognathia. Note gingival hypertrophy
Robinows Syndrome (Figs 33.2f1-6)

Facial features resemble that of fetus with prominent
forehead, hypertelorism, wide mouth, small nose with
Fig. 33.2f(2): Robinows syndrome.

Note mesomelic shortening
Fig. 33.2f(5): Robinows syndrome.

Note hypoplastic nails in toes
Fig. 33.2f(3): Robinows syndrome. Mesomelic shortening
Fig. 33.2f(6): Robinows syndrome. Note gingival

hypertrophy, mesomelic shortening
Fig. 33.2f(4): Robinows syndrome. Note mesomelia of upper

limbs, short and stubby hand, broad thumbs, clinodactyly
anteverted nostril, small chin,and philtrum. They may

have gum hypertrophy, delayed closure of fontanelle.
Mesomelic shortening is usual.
Micropenis, cleft lip/palate, renal anomalies,
hemivertebrae, congenital heart disease, and finger toe
anomalies are the other anomalies commonly noted.
The gene ROPZ is located on long arm of chromosome
9 (9q 22). The inheritance is either autosomal recessive
or autosomal dominant.
282
Noonan Syndrome
It is also called Turner like syndrome. The incidence has
been estimated to be between 1 in 1000 and 1 in 2500
live birth. It is characterized by short stature, short neck
lymphedema of neck and feet, pulmonary stenosis,
ASD, micropenis, cryptorchidism, hemivertebra. A
peculiar chest deformity with pectus carinatum
superiorly and pectus excavatum inferiorly is present.
It has to be differentiated from intrauterine exposure
to primidone, fetal alcohol syndrome, Aarskog
syndrome, cardiofacio-cutaneous syndrome, Williams
syndrome, and Costello syndrome. Transmission is
sporadic in majority of cases and occasionally autosomal
dominant.
Seckels Syndrome (Fig. 33.2g)
It is an AR syndrome characterized by growth
deficiency of prenatal onset, microcephaly, receding
forehead, prominent nose, micrognathia, and low set

malformed ears. Males usually have cryptorchidism.
Though these patients survive into adulthood they
suffer from severe mental deficiency.
FETAL OVERGROWTH
Beckwith-Wiedemann Syndrome (Fig. 33.3a)
It is an autosomal dominant metabolic dysplasia
syndrome with variable degree of expression. The main
features are congenital and/or postnatal gigantism,
muscular macroglossia, visceromegaly. Peculiar facies
(mild exophthalmos with relatively small head,
protruding occiput and telangiectatic nevi over the
upper half), and grooved ears. Sometimes omphalocele
or simple umbilical hernia may be observed.
Hemihypertrophy of the body may also be seen in
some. These infants develop problems like
hypoglycemia, polycythemia, feeding and respiratory
problems in the immediate post-natal period. They are
more prone to develop neoplastic tumors later in life.
Development is normal if hypoglycemia is properly
managed in the neonatal period. Differential diagnosis
include IDM, hypothyroidism.
Ref: Wiedemann HR. In Wiedemann HR Kunzej (eds) Clinical
Syndromes, 3rd edn Mosby-Wolfe.
Fig. 33.2g: Seckels syndrome (Bird-headed dwarfism).

Note microcephaly, prominent nose
Fig. 33.3a: Beckwith-Wiedemann. Examphalos, upper

abdominal distention due to liver enlargement, ear grooves

Infant of Diabetic Mother (Figs 33.3b1-5)
Please see chapter 26.
Fig. 33.3b(3): Macrosomia
Fig. 33.3b(1): Macrosomia baby note peculiar facies
Fig. 33.3b(4): Hairy pinna
Fig. 33.3b(2) Infant of diabetic mother. Note macrosomia
Fig. 33.3b(5): Infant of diabetic mother. Note macrosomia.

Also note characteristic hairy pinna
284
PRIMARY BRAIN DEFECT

NEUROMUSCULAR
ABNORMALITY
Walker-Warburg Syndrome (Fig. 33.4a)
Menkes Syndrome (Fig. 33.4b)

It is an X-linked recessive neurodegenerative and
connective tissue disorder that results from systemic
copper deficiency as a result of traping of copper in
intestinal mucosa and kidneys. The incidence is
It is a lethal autosomal recessively inherited syndrome

of abnormal development of brain. It is characterized
by Hydrocephalus, Agyria, Retenial displasia. Fifty
percent of cases have associated occipital Encephalocele.
The early death is the rule. Prenatal diagnosis at
20 weeks of gestation can be made based on the
presence of hydrocephalus and encephalocele.
Fig. 33.4a: Walker-Warburg syndrome. Hydrocephalus, agyria

retinal dysplasia with encephalocele, also known HARD
+/- E syndrome acronym stands for Hydrocephalus, Agyria.
RD Retinal dysplasia, E encephalocele
Fig. 33.4b: Menkes syndrome. Sparse stubby (kinky) hair

other features include cerebral degeneration, seizures
tortousity of artery low serum copper, coarse trabeculation
and fragmentation of metaphysis, hairs appear twisted and
fragile when looked under microscope (see above 3
pictures)

estimated to be 1 in 90,000 to about 1 in 2.5 lakhs
live births. The condition presents in the newborn
period or in early infancy. The presentation includes
lethargy, poor feeding, failure to thrive, twitching,
myoclonic seizures and hypothermia. The hair is twisted
and fractured, giving it the name kinky hair disease.
Progressive neurodegeneration occurs in infancy and
death occurs usually by 3 years.
Pena-Shokeir Syndrome (Fig. 33.4c)
Like the term arthrogryposis, Pena-Shokeir syndrome
represents a number of conditions with same phenotype. Multiple ankylosis, pulmonary hypoplasia, facial
anomalies, and polyhydramnios are the common
features. Severe brain spinal cord and muscle abnormalities are noted in this syndrome. Pena-Shokeir with
multiple ankylosis and pulmonary hypoplasia is an
autosomal recessive disorder.
Microcephaly, low birth weight, short stature,
dysplastic ears, hypertelorism, high nasal bridge,
microphthalmia, short neck, kyphosis, camptodactyly,
limited movements at major joints, rocker bottom feet
and lung hypoplasia are usual features.
COFS (Cerebro-oculofacio-skeletal syndrome)

(Fig. 33.4d)
Microcephaly, cataract and joint contractures should
make one think of this syndrome. Many cases die early
and those who survive fail to thrive. Facial appearance
is characteristic, i.e. nasal root is prominent and
forehead slopes sharply backward. Both eyes and jaws
are small. The condition is probably heterogenous.
Intracranial calcification, camptodactyly, rocker bottom
feet, arthrogryposis, hypotonia, mental retardation are
other important features. Some cases of Cockayne
syndrome are wrongly labeled as COFS syndrome.
Fig. 33.4d: COFS (cerebro-oculofacio-skeletal syndrome)
XLRAqueductal Stenosis (Fig. 33.4e)

Fig. 33.4c: Pena-Shokeir syndrome
The features observed in this condition are aqueductal

stenosis, cerebellar abnormalities, absence or hypoplasia
286
exophthalmos and syndactyly with subcutaneous
oedema.
Prenatal growth deficiency, absence of corpus
callosum, hypoplastic cerebrum and cerebellum, sloping
forehead, ocular hypertelorism, absent eyelids, flat
nose, micrognathia, large ears and short neck, short
limbs, flexion contractures of limbs are other important
features.
Meckel-Gruber Syndrome (Figs 33.4g1-6)
Fig. 33.4e: XLR aqueductal stenosis. Large cranium, frontal

bossing note short thumb flexed over palms also known as
MASA syndrome (Mental retardation, Adducted thumb,
Shuffling gait and Aphasia)
of corpus callosum, hydrocephalus, Hirschsprungs

disease, absent or hypoplastic thumbs, adducted thumbs
(50%), mental retardation, developmental delay,
spasticity and brisk deep tendon reflexes. The gene has
been identified as L1CAM.
It is an autosomal recessive disorder lethal in neonatal

period characterised by occipital encephalocele associated with microcephaly, hydrocephaly or anencephaly,
anophthalmia or microphthalmia, polymicrogyria, cleft
lip/palate, polycystic kidneys, hepatic fibrosis and cysts,
ambiguous genitalia, congenital heart diseases and post
axial polydactyly. Hepatic and renal disorders are
consistent. Variability in clinical spectrum occurs.
Prenatal diagnosis is possible by ultrasound examination
and by raised serum AFP levels.
Reference: Salnen et al. J Med Genet 1998; 35: 497-501.
Neu-Laxova Syndrome (Fig. 33.4f)

It is an autosomal recessive lethal disorder characterized
by microcephaly, lissencephaly, canine facies with
Fig. 33.4f: Neu-Laxova syndrome
Fig. 33.4g(1): Meckel-Gruber syndrome.

Occipital encephalocele
Fig. 33.4g(4): Meckel-Gruber syndrome-radiograph
Fig. 33.4g(2): Meckel-Gruber syndrome.

Proboscis, cyclopia, abdominal distention
Fig. 33.4g(5): Meckel-Gruber syndrome. Occipital encephalocele with midline cleft, note polydactyly in right hand (pre
axial) other features include cystic kidneys, eye defects,
talipes and inherited as autosomal recessive
Fig. 33.4g(3): Meckel-Gruber syndrome. Note occipital

encephalocele polydactyly and cystic kidneys removed and
placed beside the still polydactyly born baby
Fig. 33.4g(6): Meckel-Gruber syndrome. Note polydactyly,

abdominal distention due to cystic kidneys, facial defects,
talipes (bilateral)
288
Zellweger (Cerebro-hepato-renal) Syndrome

(Figs 33.4h1-3)
Zellwegers syndrome is transmitted as an autosomal
recessive disorder. The typical facial features include
macrocephaly, flat occiput, flat face, high forehead with
Fig. 33.4h(3): Zellwegers syndrome. Note high forehead

expressionless face, micrognathia, shallow supraorbital
ridge other features include hypotonia, hepatomegaly, renal
cyst AR inheritance wide ant fontanel, note sometimes
syndrome mistaken for Downs syndrome
Fig. 33.4h(1): Zellwegers syndrome. Zellweger syndrome

high forehead, expressionless face, micrognathia shallow
supraorbital ridge, other features include hypotonia
hepatomegaly, renal cyst AR inheritance wide ant fontanel,
baby had PDA
large fontanelles, hypertelorism, epicanthal folds,

upward slanting of palpebral fissures, nystagmus,
posteriorly rotated ears with abnormal helices,
anteverted nares, protruding tongue, high arched
palate, and redundant skin folds of neck. Other
features include bell-shaped chest, hepatomegaly,
hydronephrosis, cryptorchidism, and hypospadiasis in
males, clitromegaly in females. Neurological
abnormalities often seen in this syndrome are mental
retardation, hypotonia, seizures and hyporeflexia or
areflexia. They may also have cardiovascular anomalies
like VSD and PDA. It has an apparent resemblance to
Downs syndrome and is often mistaken for it. Diagnosis
is confirmed by evidence of elevated levels of long
chain fatty acids and pipecolic acid in the blood.
Kulkarni ML. Zellweger syndrome. Indian Pediatrics 2003;
40: 682.
Schwartz-Jumpel Syndrome (Figs 33.4i1-3)
Fig. 33.4h(2): Zellwegers syndrome. Zellweger facial

features expressionless face, high forehead, shallow supraorbital ridge, micrognathia
Schwartz-Jumpel syndrome is a rare AR disorder

characterized by muscle stiffness, mild weakness and a
number of minor dysmorphic features. Though AR
pattern is seen in majority of cases, genetic heterogenity
Fig. 33.4i(1): Schwartz-Jumpel syndrome. Note low hair line,

sad face, pursed lips, and narrow palpebral fissures
Fig. 33.4i(3): Schwartz-Jumpel syndrome. Noteinguinal

hernias, bilateral equinovarus, micropenis
The characteristic features of the syndrome include

short stature, flat face with sad fixed appearance, full
cheeks, and low hair line. Eyes have narrow palpebral
fissure,blepharophimosis and long irregular eyelashes.
Mouth is small with pursed lips, short neck, pectus
carinatum, umbilical hernia, inguinal hernia, small testes
are other features.
Skeletal features are prominent and include small
mandible, spinal anomalies, hip contracture,
fragmenting of femoral epiphysis, widened metaphysis,
joint contractures, osteoporosis and delayed bone age.
Muscles have characteristic myotonic features with
weakness and wasting.
Freeman Sheldon Syndrome (whistling face
syndrome) (Fig. 33.4j)
Fig. 33.4i(2): Schwartz-Jumpel syndrome. Noteinguinal

hernias, bilateral equinovarus,micropenis and narrow
palpebral fissures
like AD inheritance, pseudodominance and uniparental

disomy have been suggested.
It is also called whistling face syndrome. Most of the

features are secondary to increased muscle tone. The
characteristic features include sloping forehead, small
nose, long philtrum, pursed lips (These features give
rise to whistling appearance), contractures at joints,
ulnar deviation of hand, flextion contractures of fingers
and kyphoscoliosis. Inheritance is AD.
290
Fig. 33.5a(1): Fraser syndrome. Showing cryptophthalmos,

genitourinary abnormalities, band of hair extending from
temporal area to eye and syndactyly
Fig. 33.4j: Whistling face syndrome (Freeman Sheldon

syndrome). Note characteristic whistling face and bilateral
talipes equinovarus (see both figures above)
Fig. 33.5a(2): Fraser syndrome. Note syndactyly
PRIMARY FACIAL ANOMALIES

Fraser Syndrome (Figs 33.5a1-2)
The main features include hidden eye (cryptophthalmos), syndactyly and abnormal genitalia. It is a
variable syndrome and even cryptophthalmos may not
be present. Cryptophthalmia may be unilateral,
bilateral or asymmetrical. Globe is usually present below
formed eyelids. Absence of eyebrows and eyelashes,
and eye covering skin can extend from the forehead
to the cheeks. A band of hair can extend from the

anterior hairline to the anterior margin of the orbit. The
nose is broad with flat bridge and may have groove
at tip or coloboma of nares. External ears are abnormal
and may have ear canal stenosis. Syndactyly involving
only skin, laryngeal stenosis, renal agenesis, genital
abnormalities are common. Mental retardation occurs
in majority of survivors.
Fig. 33.5b: Treacher Collins syndrome. Note

antimongoloid slant, micrognathia, microtia, beaky nose
Treacher Collins Syndrome (Fig. 33.5b)

It is a disorder of craniofacial development. The
features include antimongoloid slant of the eyes,
coloboma of the lid, micrognathia, microtia and other
deformities of the ears, hypoplastic zygomatic arches,
and macrosomia. Conductive hearing loss and cleft
palate are often present. It is an autosomal dominant
disorder with variable expression. It is caused by
mutation in the treacle gene (TCOF1) situated on the
long arm of chromosome 5. Treacher Collins syndrome
should not be confused with similar entities such as
oculoauriculo vertebral dysplasia, or Goldenhar
syndrome. Coloboma is present in lower eyelid in
Treacher Collins syndrome, whereas in upper eyelid in
Goldenhar syndrome.
Blepharophimosis (Fig. 33.5c)
This is an autosomal dominant disorder characterized
by inner canthal folds, lateral displacement of inner
canthi,short palpebral fissure, and ptosis.There are two
types:type1and 2. Type 1 is characterized by infertility,
menstrual irregularities, and amenorrhea; otherwise two
types are indistinguishable. Minor anomalies may be
associated.
Fig. 33.5c: Blepharophimosis. Inheritance

is autosomal dominant (see both pictures above)
Cleft Lip Sequence (Fig. 33.5d)

Lip is usually formed by 35 days of intrauterine life.
Failure of lip closure results in secondary failure of
closure of the palatal shelves, which close around 8-9
weeks. The other secondary anomalies include defects
of tooth development in the area of cleft lip, and
incomplete development of alae nasi on the side of the
cleft. There may be mild ocular hypertelorism.Tertiary
changes include poor speech, recurrent otitis and
conductive hearing loss. More severe ones, bilateral
292
Fig. 33.5d: Unilateral cleft lip and palate
ones, and familial cases have increased risk of

recurrence in subsequent pregnancy.
Goldenhar Syndrome (Oculoauriculovertebral
spectrum) (Figs 33.5e1-3)
This syndrome results from abnormal morphogenesis
of first and second branchial arches, sometimes
accompanied by vertebral and ocular anomalies. The
disorder occurs once in 3000 to 5000 births with male
predominance. The occurrence of epibulbar dermoid
and vertebral anomaly is called Goldenhar syndrome,
whereas predominantly unilateral occurrence is
designated as hemifacial microsomia. But these two are
different spectrum of same morphogenic abnormality.
The abnormalities include epibulbar dermoids in the
eyes, microtia, accessory ear tags or pits, middle ear
anomalies, macrostomia with cleft like extension at the
corners, hemivertebrae, hypoplasia of vertebrae mainly
in cervical region. Hypoplasia of malar, maxillary and
mandibular bones, facial muscles (especially depressor
anguli oris) occur in association. Cleft lip/palate, cardiac
anomalies, genitourinary abnormalities occasionally
occur.
Fig. 33.5e(1): Goldenhar syndrome (oculoauriculovertebral

spectrum). Note hemi facial atrophy on right Microphthalmia
on the left, cleft like extension of the corner of the mouth,
mostly sporadic. Also known as facio-oculo-auriculovertebral dysostosis (see both pictures above)
Van der Woude Syndrome (Fig. 33.5f)

This syndrome is characterized by lower lip pit (s), with
or without cleft. These pits occur in 80% of cases and
are found in the vermilion border of the lower lip about

spectrum. Note severe hyperplasia of ramus of mandible
Fig. 33.5f: van der Woude syndrome
cm from the mid line. The pits run through

orbicularis oris muscle and may contain heterotopic
salivary gland, which may produce watery mucoid
secretion. The condition is inherited in an autosomal
dominant fashion and the gene has been mapped to
the long arm of chromosome 1 at q 32-41.
Orofaciodigital Syndrome (OFD) (Figs 33.5g1-8)
It is a heterogeneous group of disorders characterized
by the association of facial anomalies, oral manifestations like high arched palate, cleft lip, cleft palate,
oral frenulae, cleft or lobulated tongue and finger anomalies like polydactyly, syndactyly, brachydactyly and

spectrum). Note microtia, macrostomia, cleft like extension
of corner of mouth. Malar hypoplasia
Fig. 33.5g(1): Orofaciodigital syndrome (OFD) Type 2

Polydactyly and multiple fatty tumors of tongue. Autosomal
recessive inheritance
294
Table 33.11: Clinical features of various types of OFDs
OFD-Clinical Features
II
III
IV
VI
VII
VIII
High arched palate

Cleft palate
Tongue cleft
Tongue nodule
Oral frenula
Dental anomalies
+
+
+
+
+
+
=
=
+
+
+
+
+
+
=
=
=
=
+
+
+
+
Hypertelorism
Medial cleft lip
Facial asymmetry
Nose anomalies
Micrognathia
Hand
Clinodactyly
Brachydactyly
Syndactyly
Polydactyly - Preaxial
- Postaxial
Foot polydactyly - Pre
- Post
Brain
Cerebral anomalies
Cerebellar anomalies
Porencephaly
Hypothalamic hematoma
Mental retardation
Minor feature- Nystagmus
Skeletal changes
Renal anomalies
Mode of inheritance
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
M
+
+
X-D
AR
S
+
+
AR
M
+
+
AR
AR
+
+
+
S
AR
AD/XD
+
+
XR
Oral
Face
M- Mild, S-Severe, N-Normal, XD-X-linked dominant, AR-Autosomal recessive, AD-Autosomal dominant
Fig. 33.5g(2): Orofaciodigital syndrome (OFD). Note

midline cleft, multiple fatty tumor of tongue
Fig. 33.5g(3): Orofaciodigital syndrome (OFD). Showing

multiple lobulation of tongue, facial dysmorphism and
polydactyly
Fig. 33.5g(4): Orofaciodigital syndrome (OFD).

Note polydactyly of hands and feet
Note polydactyly of hands

Note polydactyly of hands and feet

Note polydactyly of hands
clinodactyly OFDs are classified into eight types based

on phenotypic differences and mode of inheritance.
They are given in the Table 33.11.
Frontonasal Dysplasia (Figs 33.5h1-6)
Fig. 33.5g(6): Orofaciodigital syndrome (OFD)

Note polydactyly of feet
This is a disorder of unknown primary defect in midface

development with incomplete anterior apposition
alignment of eyes, broad notched nasal tip to bifid
nostrils, median cleft lip, broad nasal bridge,
telecanthus, ocular hypertelorism,and widows peak.
These midline deficits of frontal bones are the resultant
abnormalities of unknown midfacial primary defect. This
syndrome is also called the median cleft face syndrome.
296
Fig. 33.5h(1): Frontonasal dysplasia
Fig. 33.5h(2): Frontonasal dysplasia.

Note associated imperforate anus
Fig. 33.5h(5): Frontonasal dysplasia. Frontal cleft midline split

of the nose, cleft palate and lip, lax skin, low set ears
The main features are marked hypertelorism, sometimes

with narrowing of the palpebral fissure inconjunction
with broad nasal tip, which is frequently cleft. Notching
of alae nasi might be a feature. The occurrence of
widows peak and an occasional anterior encephalocele
indicates that it may be a midline defect. Intelligence
is normal in majority of cases.
Waardenburgs Syndrome (Figs 33.5i1-4)
White forelock, pigmentery abnormalities of iris

(heterochromia), sensory neural deafness, broad nasal
root, synophrys, and an important finding of lateral
Fig. 33.5h(6): Frontonasal dysplasia. Shown in this photograph are the mother and elder sib of the newborn shown
in previous picture (Figs 33.5h1-5)
Fig. 33.5i(2): Waardenburgs syndrome
Fig. 33.5i(1): Waardenburgs syndrome. Note white forelock of hair. Baby had total aganglionosis of intestine
Fig. 33.5i(3): Waardenburgs syndrome
298
greying of hair, true hypertelorism, cleft lip and palate,
Hirschsprungs disease and congenital heart disease, i.e.
VSD. Type II has no dystropia canthorum and other
features are similar and results from PAX 3 gene
mutation on chromosome 3q. Type III is also AD
disorder due to PAX 3 gene mutation. The features are
similar to type I but upper limb deformation of variable
degrees distinguish this from others. Facial abnormalities
are almost similar to Type I but Cupid bow shape of
upper lip and large nasal root and hypoplastic alae nasi
are more pronounced. Type IV is associated with
Hirschsprungs disease and may be AD or AR.
Reference: Kulkarni ML, et al. J Med Genet 1989; 26: 411-412.
Robin Sequence
Cataract
Median Cleft Face Syndrome
Microphthalmia/Anophthalmia
Fig. 33.5i(4): Waardenburgs syndrome. Note white forelock
and associated Ileal atresia. Long segment Hirschsprungs
disease is a common associated finding in this type of
Waardenburgs syndrome
displacement of inner canthi with short palpebral fissure.

Type I has lateral displacement of medial canthi
(dystopia canthorum) whereas type II has no such
finding. Type III has limb hypoplasia, flexion contractures
and syndactyly in addition to wind features of type I.
Waardenburg syndrome that is characterized by
ocular, auditory, and pigmentary abnormalities of
Type I.
Type I is due to PAX 3 gene mutation situated on
chromosome 2q and is inherited as AD disorder. The
characters include a white forelock, sometimes extensive
depigmentation of skin, sensory neural deafness,
dystopia canthorum, heterochromia irides, synophrys
and a high nasal bridge. Some patients have premature
FACIAL LIMB DEFECTS

OPD: Otopalato-digital Syndrome II (Figs 33.6a1-2)
An X-linked recessive disorder present at birth with
hypertelorism, anti-mongoloid eye slant, micrognathia,
posteriorly rotated ears, prominent forehead, microstomia and cleft palate, in the limbs, sometimes
dislocation of hips, flexed overlapping fingers,
syndactyly, notched or bifid terminal phalanges, post
axial polydactyly and short halluces and thumbs are
noted.
Langer-Giedion Syndrome (Fig. 33.6b)
An AD disorder due to microdeletion at chromosome
8q having a close similarity to trichorhinophalangeal
(TRP) syndrome. There is mild short stature, mild-
Fig. 33.6a(1): Otopalatodigital syndrome. Note antimongoloid

slant micrognathia, posteriorly rotated ears, prominent
forehead and microstomia
Fig. 33.6b: Langer-Giedion syndrome. Note Microcephaly,

bulbous nose, thickened and notched alae nasi and long
simple philtrum, absent hair, loose skin, prominent ears
Stickler Syndrome (Figs 33.6c1-13)

Stickler syndrome is an autosomal dominant connective
tissue disorder. The characteristic features include eye
manifestations like myopia, vitreoretinal degeneration,
cataracts and retinal detachment, facial features; midface
hypoplasia broad nasal bridge, Pierre Robin sequence,
and skeletal features like epiphyseal dysplasia and
premature degenerative joint diseases.
The disorder may have variability in expression.
Pierre Robin sequence, buphthalmos and arachnodactyly are usual presentation in the neonatal period.
20 to 30% of patients with Pierre Robin sequence have
Stickler syndrome.
Conditions associated with Pierre Robin sequence
include campomelic dysplasia, Marshall syndrome fetal
alcohol syndrome, trimethadone and hydantoin
Fig. 33.6a(2): Otopalatodigital syndrome.

Note notched and bifid toes
microcephaly, bulbous nose, thickened and notched

alae nasi long simple philtrum, sparse hair and
prominent ears. At birth the skin may be very loose
which regresses with age. Radiography reveals cone
shaped epiphysis and poor mineralisation at ends of
the phalanges and exostoses of the long bones. Mild
mental retardation may be present. Langer-Giedion
syndrome (TRP II) and TRP I result from different sized
deletion in 8q and thus may be considered a contiguous
gene syndrome.
Fig. 33.6c(1): Stickler syndrome. Note arachnodactyly
300
Fig. 33.6c(4): Stickler syndrome. Note prominence of

large joints, arachnodactyly
Fig. 33.6c(2): Stickler syndrome and parent. Father enucleated for retinal detachment. Note bilateral buphthalmos and
Pierre Robin sequence in the child
Fig. 33.6c(5): Stickler syndrome. Note small nose with

anteverted nostrils with flat facial profile
Fig. 33.6c(3): Stickler syndrome congenital buphthalmos with

Pierre-Robin sequence. Note flat face and prominent eyes
(see both pictures above)
Fig. 33.6c(6): Stickler syndrome. Note flat facies with depressed nasal bridge and short nose, also seen are prominent
eyes
Fig. 33.6c(7): Stickler syndrome.

Note hypospadiasis
Fig. 33.6c(10): Stickler syndrome. Note

bilateral talipes, prominence of knee joints.
Also seen is bilateral genu valgus
Fig. 33.6c(8): Stickler syndrome
Fig. 33.6c(9): Stickler syndrome.

Note hazy cornea
Fig. 33.6c(11): Stickler syndrome. Side view

showing flat face with short nose
302
Fig. 33.6c(12): Stickler syndrome
Fig. 33.6c(13): Stickler syndrome. Note camptodactylia
Fig. 33.7a(1): Grebe syndrome. Short limbs predominantlyinvolving lower limbs, severity of shortening progress from
proximal to distal limb resulting in grape like fingers and
toes, trunk and head normal, polydactyly may be a feature
syndromes, ABS, CHARGE association, velocardiofacial syndrome, femoral hypoplasia and unusual face
syndrome, Cerebrocostomandibular syndrome
Mobeius sequence, Nager acro-facial dysostosis and
Beckwith-Wiedemann syndrome.
Ref: Kulkarni et al, Annals of Dentistry 1993; 52 (2)
LIMB ABNORMALITIES
Grebe Syndrome (Figs 33.7a1-8)
Grebe syndrome is characterized by short limbs with
progressive shortening of limbs from proximal to distal
ends with predominant involvement of lower limbs with
grape like toes. Bones of the limbs are hypoplastic and
the small bones are usually absent. Postaxial polydactyly
is common. Heterozygotes may have polydactyly,
brachydactyly, hallux valgus, and delayed bone age.
Fig. 33.7a(2): Grebe syndrome in one of the

twins (right)
Fig. 33.7a(3): Grebe syndrome
Fig. 33.7a(6): Grebe syndrome. Severe micromelia

especially in the lower limbs
absent bones/hypoplastic in
the lower limb, shortening
progressively increases
distally. Head and trunk
normal
Fig. 33.7a(4): Bulbous fingers in Grebe syndrome

Fig. 33.7a(7): Grebe syndrome. With very
short lower limb and bulbous toes
Radiographic abnormalities include short long bones

of upper limbs; ulna much shorter than radius,
rudimentary or absent carpal bones and phalanges.
Lower limb long bones are short with short feet in
valgus position with rudimentary or often absent
phalanges.
The gene (CDMD-I) of Grebe syndrome has been
mapped to chromosome 20. Though the inheritance
of this disorder is considered to be autosomal recessive,
data suggests that the gene may have some effect in
the heterozygotes. About 90% of the cases reported are
from consanguineous union.
Fig. 33.7a(5): Grebe syndrome
Reference: Kulkarni ML, et al. Grebe syndrome. J Med

Genet 1995, 32 : 326-327.
304
Fig. 33.7b: Popliteal pterygium syndrome

Fig. 33.7a(8): Grebe syndrome a stillborn. Many patients are
stillborn or die in infancy, survivors are said to be of normal
intelligence, develop normal secondary sexual characteristics and walk without difficulty. Inheritance AR
Popliteal Pterygium Syndrome (Fig. 33.7b)

An AD disorder with wide variability in expression
characterized by popliteal web (90%), cleft palate (90%)
and lower lip pits (50%). Genital anomalies occur in
50% of cases and include hypoplastic labia majora,
scrotal dysplasia and cryptorchidism.
Femoral Hypoplasia, Unusual Facies
Syndrome (Figs 33.7c1-4)
A syndrome of unknown etiology often occurring
sporadically characterized by femoral hypoplasia, short
nose and cleft palate. Maternal diabetes is reported
frequently.
The face has short nose with hypoplastic alae nasi,
long philtrum, thin upper lip, micrognathia and cleft
palate, abnormal ears and upslant of eyes.
Limb shortening may be unilateral or bilateral and
of varying degree. Femora are hypoplastic to absent.
Fig. 33.7c(1): Femoral hypoplasia unusual facies syndrome

short-bowed femora (unilateral or bilateral), vertebral and
sacral anomalies, variable hypoplasia of humeri

Tibia, fibula may be involved in shortening along with
restricted elbow movement with radioulnar synostosis
and limited shoulder movement. Spinal, pelvic and
genitourinary anomalies are common.
Radial Dysplasia (Figs 33.7d1-4)
Radial dysplasias occur in Fanconis pancytopenia, HoltOram syndrome, Roberts-SC phocomelia, VATER
association, Beller Gerold syndrome, and Levy Hollister
syndrome. Rarely seen in trisomy 13 and 18, deLange
Fig. 33.7c(2): Femoral hypoplasia unusual facies
syndrome

posterior view showing short femora and short lower trunk
Fig. 33.7d(1): Radial dysplasia in TAR syndrome. Radial

aplasia, purpura other features congenital heart, defects of
lower limb, Inheritance AR
Fig. 33.7d(2) Radial dysplasia
306
Fig. 33.7d(3): Bilateral radial dysplasia

Fig. 33.7e(1): EEC syndrome-cleft lip palate
Fig. 33.7e(2): EEC syndrome-Ectodactyly
Fig. 33.7d(4): Holt-Oram syndrome.

Note radial dysplasia
syndrome, cat eye syndrome, Nager syndrome and

Seckel syndrome. Holt-Oram syndrome is characterised
by aplasia or hypoplasia of radial structures with ASD
and is inherited as a dominant syndrome. TAR
syndrome consists of thrombocytopenia with usually
bilateral absent radius. It is inherited as an AR disorder.
EEC Syndrome (Figs 33.7e1-5)
The ectrodactyly, ectodermal dysplasia, clefting
syndrome is a multiple congenital anomaly syndrome
Fig. 33.7e(3): EEC syndrome ectodactyly (split hand), missing

digit from middle ray of hand with partially-split palm giving
a lobster claw appearance, usually a AD disorder with
markedly reduced penetrance, occasionally part of
syndrome, e.g. EEC

the findings in some cases and urogenital anomaly is
another hallmark of the syndrome. The anomaly is
thought to be inherited as an autosomal dominant
pattern in some families. However, genetic heterogeneity is also known to exist.
Larsen Syndrome (Figs 33.7f1-14)
Characterized by joint hypermobility, multiple joint
dislocations, especially of knees and talipes equinovarus. The mid face is hypoplastic with depressed nasal
Fig. 33.7e(4): EEC syndrome. Bilateral cleft lip and

palate in a case of EEC syndrome
Fig. 33.7f(1): Larsen syndrome. Flat mid-face, depressed

nasal tip, dislocation of knee and hip, positional deformity
of feet, other features include prominent forehead,
hypertelorism cleftlip and palate, Inheritance AD or AR
Fig. 33.7e(5): EEC syndromeectodactyly, ectodermal

dysplasia and cleft palate
characterized by ectodermal dysplasia, distal limb

anomaly, cleft lip/palate and lacrimal duct anomalies.
Embryologically the EEC syndrome and related disorders represent disorders of ectodermal/mesodermal
interaction. Mental retardation is reported to be among
Fig. 33.7f(2): Larsen syndrome.

Hyperextensibility of knee
308
Fig. 33.7f(3): Larsen syndrome. Talipes equinovarus or valgus,

delayed coalescence of the two-calacaneal ossification
centers
Fig. 33.7f(6): Larsen syndrome

Talipes equinovarus

Multiple joint dislocations

Hip and knee dislocation
Fig. 33.7f(8): Larsen syndrome. Hypertelorism, prominent

forehead hypertelorism, depressed nasal tip and flat face

Fig. 33.7f(9): Larsen syndrome. Long non-tapering fingers
with spatulate thumbs, short nail. Short metacarpals and
multiple carpal ossification centers
Fig. 33.7f(12): Larsen syndrome. Note simian crease

micrognathia
310
(1)
Fig. 33.7f(14): Larsen syndrome. Typical posture note

hyperextensibility of knee
bridge. Cleft palate may be present. Radiography

reveals under mineralization and over tubulation of long
bones, a bifid calcaneum and advanced bone age in
carpal or extracarpal bones. Scoliosis and coronal clefts
of vertebrae and subluxation of the vertebrae may be
found. Subglottic stenosis, anal atresia, uterine
malformation, radioulnar synostosis, preaxial
polydactyly are reported in some cases. The disorder
is either autosome recessively or dominantly inherited.
Lethal Multiple Pterygium Syndrome
(Figs 33.7g1-2)
An AR disorder characterised by ankyloblepharon with
corneal ulceration in 50%, epicanthal folds, hyper-
(2)
Fig. 33.7g: (1) Multiple pterygium syndrome. (2) Pterygia
(web) at knees and elbows short neck, hypertelorism
epicanthic, folds flat nose, TEV and foot abnormalities
telorism, down turned eyes, hypoplastic malformed

nose, micrognathia, and cleft palate. Filiform strands
connect upper and lower lips.
Flexion contractures of elbow, shoulder, hips, knees,
ankles, hands and feet are common. Pterygium is
present in chin to sternum, cervical, auxillary, crural,
anticubital, popliteal and ankles. All patients are stillborn
or die in immediate neonatal period.
SKELETAL DYSPLASIAS
Achondrogenesis Types 1 and 2 (Figs 33.8a1-4)
Both are autosomal recessive lethal disorders
characterized by large head, low nasal bridge, very short
limbs, and incomplete ossification of lower spine.
Achondrogenesis type I and II (ParentFraccaro type
and Langer-Saldino type) cannot be distinguished
clinically. Both result in stillbirth and are characterized
by severe micromelia, a relatively large head, a short
neck, a short trunk and protuberant abdomen. Both
have flat nasal bridge, and short nose with short
anteverted nostrils. Radiologically, ossification of skull,
spine and pelvis is more deficient in type I than in type
II. The long bones are more severly micromelic in type
I and there are spiky metaphyseal spurs in both but
more so in type I. Type I has been subdivided into
two types: A (Houston- Harris type) and B (ParentFraccaro type). Type IA cases have multiple rib fractures
and almost complete lack of ossification of spine.
Encephalocele may occur occasionally. The gene
Fig. 33.8a(1): Achondrogenesis Type I. Note large head,

extreme micromelia, all 4 limbs and protuberant abdomen,
note relatively narrow chest
Fig. 33.8a(2): Achondrogenesis Type I. Deficient ossification

of vertebral bodies, pelvis and sacrum, multiple fracture and
under ossification of ribs and severely shortened long bones
with spur formation, AR inheritance
Fig. 33.8a(3): Achondrogenesis Type II. Severe micromelia

abdominal distention, large head, radiological features
differentiate from Type 1a and 1b
312
Fig. 33.8a(4): Achondrogenesis Type II. Note complete

absence of spine ossification with relatively normal skull a
differentiating feature from Type 1 achondrogenesis
involved in Type I is DTDST and in Type II, COL2A1and

both are inherited as autosomal recessive disorders.
Fig. 33.8b(1): Short rib polydactyly type I (Saldino Noonan

Type). SRP1 note hydropic appearance, short limbs, narrow
chest, hypoplastic penis, syndactyly, Note incidental cleft lip
Short Rib Polydactyly Types I and II (Saldino

Noonan type and Majewski type) (Figs 33.8b1-7)
Short stature, narrow thorax, short limbs, postaxial
polydactyly of hands and/or feet, short horizontal
ribs,and small iliac bones with horizontal acetabular roof
are characteristic features in both types. Abnormal
genitalia, imperforate anus, cardiac and renal defects
may occur.
Radiographs show short horizontal ribs, metaphyseal
irregularities of long bones with spurs extending from
medial and lateral segments, and triangular ossification
defects above lateral aspect of acetabulum.
Type II or Majewski type is characterized by
disproportionately short, abnormally shaped tibia in
addition to short limbs and short ribs, and postaxial
polydactyly. Cleft lip/palate, general abnormalities, and
renal cysts may occur in type II. Both types are
autosomal recessive disorders with lethality soon after
birth due to pulmonary hypoplasia.
Fig. 33.8b(2): Short rib polydactyly type I (Saldino Noonan

Type). Severely shortened ribs, small pelvis and very short
tubular bone with jagged appearance at the metaphysis,
other features polydactyly, hydrops, early death and aut.
dominant inheritance
Fig. 33.8b(3): Short rib polydactyly type II (Majewski type). Note

midline cleft, narrow thorax, short limbs, short flat nose with
median cleft lip, ambiguous genitalia, slight hydropic
appearance
Fig. 33.8b(6): Short rib polydactyly type II (Majewski type). Note

midline cleft, narrow thorax, short limbs, short flat nose with
median cleft lip, ambiguous genitalia, slight hydropic
appearance
Fig. 33.8b(4): Short rib polydactyly type II (Majewski type).

Narrow thorax, short limbs relatively narrow pelvis, short oval,
tibia polydactyly, short horizontal ribs, inheritance AR

Note polydactyly in all extremities, also seen is ambiguous
genitalia

Short horizontal ribs small iliac bones with horizontal acetabular roof, postaxial polydactyly, disproportionately short
oval shaped tibia, short rounded metacarpals and metatarsal
314
Thanatophoric Dysplasia (Figs 33.8c1-3)

An autosomal dominant disorder almost always due to
fresh gene mutation (FGFR3) characterized by short
limbs, flat vertebrae, and large cranium with low nasal
bridge. These patients usually die shortly after birth
(thanatophoric means death bringing) due to respiratory insufficiency as a result of narrow thorax.
Fig. 33.8c(1): Thanatophoric dysplasia. Note large head,

frontal bossing, depressed bridge of nose short bowed
limbs, small thorax, mid face hypoplasia with anteverted
nostrils
Fig. 33.8c(3): Thanatophoric dysplasia. Note wrinkled

skin and other features
All long bones are short with wide irregular cupped

metaphysis. Telephone receiver like femora, flat
vertebral bodies, small iliac bones, and a spur at medial
side of acetabulum are characteristic radiologic features.
Prenatal diagnosis by ultrasound is possible and there
is no recurrence in subsequent pregnancies as most
cases are fresh mutations. Type I has bent femora and
flat vertebral bodies, whereas Type II has straight femora
and taller vertebral bodies. Those with cloverleaf skull
always have Type II disease.
Camptomelic Dysplasia (Figs 33.8d1-3)
Fig. 33.8c(2): Thanatophoric dysplasia. Very short tubular

bones with metaphyseal flaring and cupping, short telephone
receiver femora with medial metaphyseal spur, flat vertebral
bodies giving inverted u or h shaped appearance in AP
projection, most cases are sporadic
This disorder is due to an autosomal dominant gene

that is usually lethal characterized by bowed tibia,
hypoplastic scapule, flat face, short and flat vertebrae,
bent bones, slender ribs, kyphoscoliosis, small iliac
wings. Absence of ossification centers of proximal tibial
and distal femoral epiphysis and talus are characteristic
radiologic finding.

Jeune Asphyxiating Thoracic Dystrophy
(Figs 33.8e1-3)
Fig. 33.8d(1): Camptomelic dwarfism. Note bowed legs

Hypertelorism micrognathia, ambiguous genitalia and talipes
An autosomal recessive disorder characterized by small

thorax, short limbs and hypoplastic iliac wings. Fifty
percent of cases have postaxial polydactyly. Face is
normal, limb shortening is rhizomelic. Ribs are short;
ilia are small with irregularity of acetabulum from which
medial bony projection is visible. Premature ossification
of capital femoral epiphysis is typically seen in the
newborn. Most infants die early in life due to hypoplastic
lungs. Those who survive develop renal failure due to
renal cysts nephropathy and cirrhosis due to hepatic
involvement. Biliary atresia, cardiac and renal
anomalies, hydrocephalus, and tracheal/laryngeal
abnormalities have been described. Ultrasound may
reveal renal cysts. Prenatal diagnosis is possible by
ultrasound at about 18-20 weeks by demonstrating
narrow thorax. Norms for thoracic circumference
abdominal ratios have been established which aid in
the diagnosis. Ribcage perimeter and AC (Abdominal/
chest) ratio has shown to be more reliable.
Fig. 33.8d(2): Camptomelic dwarfism: Note bowed femora

and tibia mimicking fracture hypoplastic fibulae, bell-shaped
narrow thorax. Other clinical feature are cleft palate, hypertelorism and occasional cardiac and genital anomalies
Fig. 33.8d(3): Camptomelic dwarfism. Mild bowing of femora,

short fibula, absent ossification center at knee joint
Fig. 33.8e(1): Jeunes thoracic dystrophy. Note narrow

chest with apparent abdominal distention
316
(2)
Fig. 33.8f(1): Achondroplasia. Large head with frontal bossing
mild rhizomelia in newborn period abnormal acetabular roof
in newborn period which is an important finding in newborn
period
(3)
Figs 33.8e(2-3): 2. Jeunes thoracic dystrophy. 3.
Note: bell-shaped thorax and hypoplastic lungs
Achondroplasia (Figs 33.8f1-4)

It is an autosomal dominant disorder due to mutation
in the gene encoding fibroblast growth factor receptor
3 (FGFR3) located on chromosome 4. Clinically it is
characterized by rhizomelic short limbs, frontal bossing,
low nasal bridge, mid facial hypoplasia, progressive
narrowing of lumbar interpedicular distance, lumbar
lordosis, short tubular bones with metaphyseal flare,and
small trident hand. When an achondroplasiac marries
another achondroplasiac, there is a 25% risk of
homozygous achondroplasia (which is lethal in neonatal
period) and 50% risk of heterozygous achondroplasia
compatible with almost normal life. Hydrocephalus and
spinal complications can be serious.
Achondroplasia should be diagnosed at birth; but
rhizomelic short limbs and broad prominent forehead
Fig. 33.8f(2): Achondroplasia. An older patient with achondroplasia showing decreasing interpeduncular distance from
thoracic to lumbar spine, short round iliac crest, narrow sacrosciatic notches, horizontal acetabular roof, oval translucency
of proximal femora, note also widened metaphysis of long
bone, AD disorder wherein 80% are new mutations
may not be striking at birth. But pelvis is always

abnormal; the iliac wings are small and squarish, and

acetabular roof is horizontal with narrowing of greater
sciatic notch. From the roof, there is a projecting medial
bony spike. Short long bones and metaphyseal slope
result in a translucent area at the proximal ends of the
femora in the neonatal period. The narrowing of
interpedicular distance becomes evident later. Abnormal
foramen magnum, hydrocephalus, spinal stenosis may
cause neurological problems. Prenatal diagnosis is
possible by combined use of US and molecular
methods (detecting mutation in FGFR3 gene).
Metatropic Dysplasia (Figs 33.8g1-3)
Fig. 33.8f(3): Achondroplasia. Short long bones particularly

proximal ones with widened metaphysis
This is an AR or sporadically inherited, short limbed,

skeletal dysplasia with dumbbell like configuration of
long bones (trumpet shaped metaphyses), a narrow but
normal length thorax and occasionally a coccygeal
appendage similar to a tail (a characteristic finding if
present).Metatrophic means changeable as in this
condition, the proportion of trunk to the limb changes
Fig. 33.8f(4): Achondroplasia. Made for each other. An

achondroplasiac has married an achondroplasiac. In such
a situation there is 50% chance for heterozygous achondroplasia as the baby shown in the figure, however there is 25%
risk of severe homozygous achondroplasia which is often
lethal in neonatal period, note large head, frontal bossing
depressed nasal bridge and mild rhizomelic shortening of
limbs in the baby
Fig. 33.8g(1): Metatrophic dwarfism. Trunk is

relatively long with short limbs
318
Ellis-van Creveld Syndrome
(chondroectodermal dysplasia) (Figs 33.8h1-5)
An AR disorder characterized by short distal extremities,
polydactyly and hypoplastic nails. Neonatal teeth,
alveolar ridges, atrial septal defects are often present.
It closely fesembles Jeune thoracic dystrophy; but it can
be differentiated from by the presence of cardiac rather
than renal defects which is seen in the latter condition.
Fig. 33.8g(2): Metatrophic Dwarfism. Short stature, short

limbs prominent joints, severe kyphoscoliosis, narrow chest
relatively long feet. Incidentally note postaxial polydactyly
(1)
Fig. 33.8g(3): Metatrophic Dwarfism. Extreme flaring of

metaphysis (Dumb bell-shaped long bones) in the neonatal
period with platyspondylia. A caudal appendage (tail) is
some times diagnostic
over time. Small thorax, thoracic kyphoscoliosis and

metaphyseal flaring are characteristic findings. There is
genetic heterogeneity in this disorder. The lethal
autosomal recessive form has severe mushrooming and
shortening of tubular bones and severe under
ossification of vertebral bodies. Nonlethal autosomal
dominant and autosomal recessive forms are also
described. Narrow thorax, short ribs, short limbs,
metaphyseal flaring, restricted mobility at joints, square
iliac wings are characteristic features.
(2)
Figs 33.8h(1-2). Ellis-van Creveld syndrome (1). Note short
distal extremities and post-axial polydactyly. Symmetric postaxial polydactyly in all the limbs is differentiating feature from
Jeune thoracic dystrophy (2)

Autosomal Recessive Chondrodysplasia
Punctata (Rhizomelic type) (Figs 33.8i1-2)
An autosomal recessive disorder due to loss of specific
peroxisomal functions characterized by short humeri,
femora, coronal cleft of vertebrae and punctate
epiphyseal mineralization. Mental retardation microcephaly, alopecia, flat feet, cataract, ichthyosis are other
features noted in this disorder. The life span is severely
shortened. An X-link dominant variety (ConradiHnermann) also exists.
Fig. 33.8h(3): Ellis-van Creveld syndrome.
Note Wormian bones
Fig. 33.8i(1): Chondrodysplasia punctata. In an older child

Note alopecia, rhizomelic shortening, low nasal bridge flat
facies, hypoplasia of malar eminence
Fig. 33.8h(4): Ellis-van Creveld syndrome. Trident appearance of acetabular roof, hypoplasia of the upper lateral tibia,
postaxial polydactyly, other feature are short limb, small chest
making trunk appear long and thin, oral frenulae, neonatal
teeth, hypoplastic nail and ASD. Inheritance AR. Note
cardiomegaly due to ASD
Fig. 33.8h(5): Ellis-van Creveld syndrome. Showing ASD in

echo a important differentiating feature from Jeune asphyxiating dystrophy
Fig. 33.8i(2): Chondrodysplasia punctata. Note short limbs

more severe in upper limbs flat mid face, dry skin with some
dimpling, inheritance AR, X-ray shows expanded metaphysis
and epiphysis and extra-cartilaginous stippling and coronal
cleft of lumbar vertebrae
320
Hypophosphatasia (Figs 33.8j1-2)
Cleidocranial Dysostosis (Figs 33.8k1-4)
An AR disorder characterized by poorly mineralized

cranium, short ribs, hypoplastic fragile bones and rickets
like changes at metaphysis. Moth eaten appearance of
metaphysis, spurs of ulna, fibula are other features.
Serum alkaline phosphatase is low and urinary
excretion of phosphoethanolamine is increased. Death
results in early infancy due to respiratory insufficiency.
Based on age of onset and clinical findings, there are
four types; perinatal lethal type, infantile type, juvenile
type and an adult type.
An autosomal dominant disorder with wide variability

in expression, characterized by defect of clavicle
(hypoplasia to absence), big head with wide anterior
fontanel and frontal bossing. Absent clavicle occurs in
10%. Narrow thorax, extra ribs, incompletely ossified
sternum, unossified pubic bones, hypoplastic iliac
bones, wide cranial sutures, wormian bones, and
enlarged foramen magnum are other features.
Absent or hypoplastic clavicles can occur in other
disorders like Sprengels deformity, Roberts syndrome,
Holt-Oram syndrome, TAR syndrome, achondrogenesis, osteogenesis imperfecta, and in certain
chromosomal and multiple anomaly syndromes.
Fig. 33.8j(1): Hypophosphatasia. Note features of rickets,

costochondral beading, widening of wrists
Fig. 33.8k(1): Cleidocranial dysostosis. Note absent
clavicles and narrow thorax
Fig. 33.8j(2): Hypophosphatasia. X-ray of the same child taken

later in infancy. Generalized osteoporosis, widened
metaphysis with moth eaten appearance, ricket like changes
at metaphysis
Fig. 33.8k(2): Cleidocranial dysostosis. Note wide sutures

wormian bones poorly mineralized skull, wide anterior
fontanel

and cleft palate are frequent. The disease is usually
recognized at birth. But milder cases are recognised
later. With time infants develop progressive kyphoscoliosis, respiratory compromise, twisted gait, and
inflammation of pinna causing cauliflower ear.
Radiologically there is marked shortening of first
metacarpal, irregular length of metacarpal and
irregularities of metaphyses and epiphysis.
Antenatal diagnosis is possible by ultrasound during
second trimester.
Fig. 33.8k(3): In an older child note widely separated
sutures and widely open anterior fontanel
Fig. 33.8k(4): Cleidocranial dysostosis. In skull and absent

clavicle and narrow thorax in chest X-ray and clinical photo
showing approximation of shoulders
Mesomelic Dysplasia Severe Dominant Form

(Fig. 33.8m)
It is an autosomal dominant disorder with gross
shortening of distal limb bones with partial absence of
fibula. Fore arm and legs show abnormalities fibulae
are partially or completely absent causing disruption at
ankle joint, the ulna is shorter than radius, which is
bowed and radial head is malformed and dislocated.
Note incidental fracture of femora due to breech
delivery.
Diastrophic Dysplasia (Fig. 33.8l)

An AR disorder due to DTDST gene on chromosome
5q characterised by micromelia (mainly rhizomelic) club
foot, hand deformities, short and widely placed fingers
with thumbs in hitchhiker position, multiple joint
contractures and scoliosis. The term diastrophic means
twisted. The head and skull are normal. Micrognathia
Fig. 33.8m: Mesomelic dysplasia (severe dominant form). It
is an autosomal dominant disorder with gross shortening
of distal limb bones with partial absence of fibula. Forearm
and legs show abnormalities, fibulae are partially or
completely absent causing disruption at ankle joint, the ulna
is shorter than radius, which is bowed and radial head is
malformed and dislocated. Note incidental fracture of femora
due to breech delivery
Fibrochondrogenesis (Fig. 33.8n)
Fig. 33.8l: Diastrophic dwarf. Note abducted thumb and

rhizomelic shortening, short stature and joint contractures
A rare autosomal recessive lethal rhizomelic chondrodysplasia which is characterized by distinctive fibrosis of
growth plate cartilage. The clinical characters include
relatively large head with wide anterior fontanelle,
322
Fig. 33.8n: Fibrochondrogenesis. Note relatively large head, short neck and rhizomelic short limbs.
X-rays show dumb-bell shaped long bones, irregular acetabulum, ovoid short fibula
bulging eyes with large cornea, hypoplastic nose, long

philtrum, cleft palate, short neck and low set ears.
Vertebrae are flat, ribs are thin with cupping at both
ends. Limbs are rhizomelically short, long bones are
short, dumb-bell shape with irregular metaphysis,
fibulae are short and ovoid, ilia are irregularly flat and
spiky acetabulum are other features.
Skeletal dysplasia also occur in mammals other than
humans (Fig. 33.8o).
CRANIOSYNOSTOSIS
Craniosynostosis is an abnormal shape or dimension of
skull caused by premature fusion of one or more skull
sutures. It includes scaphocephaly, brachycephaly,
oxycephaly, plagiocephaly, trigonocephaly, turricephaly,
and cloverleaf skull. Craniosynostosis may be an isolated
entity or may be part of other syndromes such as
chromosomal (mainly structural anomalies), metabolic
(idiopathic, hypercalcemia, rickets, hypophosphatasia,
hyperthyroidism, MPS, mucolipidosis), inherited
Mendelian disorder (Apert, Bellar Gerold, Carpenter,
Crouzon, Escobar, Bixler, Lowry, Pfeiffer), teratogenic
(e.g. aminopterin, infection). See also chapter 32.
Aperts Syndrome (Acrocephalosyndactyly)
(Figs 33.9a1-2)
Fig. 33.8o: Skeletal dysplasia in dogs
An autosomal dominant craniosynostosis, occurring

sporadically due to mutation in FGFR 2 gene on
chromosome 10. Most of the cases are due to fresh
mutations. Acrocephaly, brachycephaly, cerebral
atrophy, delayed closure of fontanel, hypertelorism,
proptosis, down slanting of eyes small nose, flat face,
hypoplastic maxilla,cutaneous or osseus syndactyly
(Mitten hand or baseball glove appearance of hand)
Fig. 33.9b: Carpenter syndrome. Note abnormal shape

of skull (craniosynostosis) and polydactyly
Carpenter Syndrome (Fig. 33.9b)

Fig. 33.9a(1): Aperts syndrome. Note high full
forehead, mid-facial hypoplasia, small nose
It is characterized by acrocephaly, polydactyly and

syndactyly of feet, lateral displacement of inner canthi,
CVS anomalies in 50%, genital abnormalities and
variable mental development.
Clover Leaf Skull Deformity (Fig. 33.9c)
Clover leaf skull syndrome is characterized by the
association of premature closure of the coronal,
lambdoid, and sagittal sutures and hydrocephalus. As
Fig. 33.9a(2): Apert syndrome
and other skeletal anomalies are other features.

Deafness, optic atrophy,hydrocephalus, crowding of
teeth develop in later life. PND is possible by US and
molecular means.
At birth all cranial sutures are abnormal apart from
lambdoid and head is tower-shaped, flat from front to
back with prominent forehead.
Fig. 33.9c: Clover leaf skull deformity. Clinical and

radiological findings
324
a result of this a grotesque shaped skull is found, that

shows bulging of 3 bones the temporal, occipital, and
frontal. The term clover leaf refers to these three
leaves. It can occur as an isolated condition or may
be associated with conditions like thanatophoric
dysplasia and campomelic dysplasia.
PRIMARY SOFT TISSUE/

CONNECTIVE TISSUE ANOMALIES
Klippel Trenaunay-Weber Syndrome
(Figs 33.10a1-2)
The cardinal features of this syndrome are capillary or
cavernus cutaneous hemangiomas, vericose veins and
hypertrophy involving one side of the body or a single
limb. Hemangiomas commonly occur in limbs or trunk.
Vericosities may be evident in the newborn period.
Most cases are sporadic.
Fig. 33.10a(1): Klippel-Trenaunay-Weber syndrome.

Asymmetrical hypertrophy of limb associated with vascular
nevi other features include venous malformations of internal
organs, syndactyly or polydactyly, vascular lesions of skin
may be remote from the hypertrophied limb, usually sporadic
Fig. 33.10a(2): Klippel-Trenaunay-Weber syndrome.

Note hypertrophy of the second toe and hemangioma
Osteogenesis Imperfecta Type II Perinatal

Lethal (Figs 33.10b1-8)
These infants are either stillborn or die in infancy. There
are multiple intrauterine fractures of long bones and
ribs. Long bones are bent and rib cage is small causing
respiratory insufficiency. Skull is large and fontanelle are
wide. Sclera is blue.
Fig. 33.10b(1): Osteogenesis imperfecta type I

(Perinatal lethal type)
Fig. 33.10b(2): Osteogenesis imperfecta type II (perinatal

lethal type). Multiple long bone fracture appear bend. Note
rib fracture
Fig. 33.10b(5): Osteogenesis imperfecta type II

(perinatal lethal type)
Fig. 33.10b(6): Osteogenesis imperfecta type II (perinatal

lethal type). Perinatal lethal type showing multiple deformities due to fracture

Fig. 33.10b(7): Osteogenesis imperfecta type II (Perinatal

lethal type). Multiple fractures of long bones with crumpled
appearance, multiple fractures of ribs appreciated as beading
326
Fig. 33.10b(8): Osteogenesis imperfecta type II (Perinatal

lethal type). Multiple fractures of long bones and ribs resulting
in shortening of limbs
Osteogenesis Imperfecta Type III

(progressive deforming) (Figs 33.10c1-3)
Fig. 33.10c(2): OI Type III mild bowing of femora due to

fracture of femoral. Note bowing of legs due to fracture
Babies display shortened, bowed extremities, thoracic

defects and relative macrodactyly intrauterine fractures
are common and postnatal fractures go on occurring
Fig. 33.10c(3): Note blue sclera
with minor trauma and heal with excessive callus and

cause deformities. Sclera may be blue.
Marfans Syndrome (Figs 33.10d1-3)
Fig. 33.10c(1): Osteogenesis imperfecta type III (progressive
deforming type).Note blue sclera mild bowing of femora due
to fracture of note bowing of legs due to fracture
This condition is caused by a mutation of the Fibrillin1 gene (FBN-1) on chromosome 15 and is inherited
as an AD disorder. This disorder is characterized by
Fig. 33.10d(1): Marfans syndrome. Marfan baby with his

mother. Note tall stature of the mother
dolichostenomelia (long tapering limbs), arachnodactyly, pectus deformities of chest, mitral and aortic
regurgitations, upward ectopia lentis, myopia, high
palate, and mild joint laxity. Other connective tissue
features include scoliosis,and skin striae. A dilated aortic
root may be demonstrated even in some neonates and
aneurysm and dissection of aorta is an important cause
for mortality. Dural ectasia is demonstrated in some
cases. Long fingers, thumb sign (flexed and abducted
thumb crosses palm) are other features.
A severe neonatal variety has been described where
in marked Marfanoid features are associated with severe
cardiac valve insufficiency, aortic root dilatation and
early death. Many infants have congenital contractures
of the large joints, hypermobility of the fingers,
micrognathia and anterior chest deformity. The defect
is due to FBN-1 gene and can occur as AD or sporadic
case.
Ehlers-Danlos Syndrome (Fig. 33.10e)
Ehlers-Danlos syndrome is a heterogenous group of
connective tissue disorder characterised by abnormalities of skin, joints and other connective tissues due
to defective synthesis of fibrillar collagen in the
connective tissue. Collagen forms more than half of the
white fibres in the connective tissue including skin,
ligaments, tendons, blood vessels, viscera, bones and
Fig. 33.10d(2): Marfans syndrome. Marfans syndrome in new

born, mother of this child also had Marfans syndrome note
arachnodactyly. Echocardiogram showed aortic root dilatation
Fig. 33.10d(3): Marfans syndrome. Marfans syndrome in the

mother showing arachnodactyly, mother had aortic root
dilatation, MVP and was on beta blockers, she successfully
went through two pregnancies and deliveries
Fig. 33.10e: Ehlers-Danlos syndrome. Note hyperextensible skin. Note long fingers
328
Table 33.12: Classification, clinical features, mode of inheritance and biochemical defects in Ehlers-Danlos syndrome
Old
Classification
Revised
I Gravis
Classical
Soft, velvety
Large++
Hyperextensible+++ Small+++
Scoliosis+
Bruising++
Abnormal
scars
II Mitis
Classical
Soft, velvety
Hyperextensible+
Bruising+
Abnormal scars++
Large++
Small+++
Scoliosis++
III Familial
Hypermobility
Hypermobile
Soft
Hyperextensible+
Large+++
Small++
IV Arterial
Vascular
Thin transparent
Bruising
Large +
Small+
Pinched face, thin nose AD

Arterial/bowel/uterine
Rupture
Thin extremities
Short stature
CQL3A1
Mutations
V X-linked
Removed to
other
category
Soft, velvety
Hyperextensible+
Bruising+
Abnormal scars
Large++
Small++
Intra-muscular
hemorrhage
XLR
Not known
VI Ocular
Ocularscoliotic Soft, velvety

Hyperextensible+
Bruising+
Abnormal scars++
Large++
Small++
Scoliosis++
Dislocation+
Ocular fragility
Vascular fragility
Myopia
Hernia
Brittle cornea
Blue sclera
AR
Lysyl
hydroxylase
deficiency
VII A/B
Arthrochalasis
multiplex
Congenita
mutations
Arthrochalasis
Soft, velvety
Hyperextensible+
Bruising+
Large+++
Small+++
Dislocation
+++
Short stature
AD
COL1A1/
COL1A2
VII C Dermatospraxis
Dermatospraxis
Soft, velvety
Bruising++
Fragility+++
Hernia
Blue sclera
Vascular fragility
Osteopenia
AR
pNPI
Mutations
VIII
Periodontal
Removed to
other
category
Soft, velvety
Hyperextensible++
Bruising++
Abnormal scars++
Large ++
Small++
Periodontitis juvenalis
AD
Not known
IX
X linked cutis
laxa
Removed
from EDS
phenotypes
Soft
Lax
Hyperextensible
Limited
pronation/
supination
Bladder diverticula
Broad clavicles
Occipital horns
XLR
ATP7A
Mutations
X
Fibronectin
defect
Removed to
other
category
Hyperextensible++
Bruising++
Abnormal scars++
Large+
Small++
Petechiae
Striae distensae
AR
Defect in
fibronectin
Skin
Clinical features
Joint
Other connective tissue
hypermobility
Inheritance
Molecular
defect
Premature rupture of
fetal membrane,
varicose veins, hernia,
Abnormal valves
AD
COL5A1,
COL5A2,
COL1A1
Mutations
Varicose veins,
Abnormal valves
AD
COL5A1,
COL5A2,
Mutations
COL1A1
Null alleles
AD
Not known

cartilage. They have distinguishing gene structure,
amino acid sequence, tissue distribution and cells of
origin. Fibrillar collagens are a subset of five (I, II, III,
V and XI) of the nineteen known types of collagen
encoded by nine distinct genes. The ten identified types
of Ehlers-Danlos syndrome result from alterations in
fibrillar collagen structure, expression or posttranslational
processing. Therefore different forms of Ehlers-Danlos
syndrome present with phenotypic variations depending
on the tissue involvement, genetic defects and mode
of inheritance.
The classification of Ehlers-Danlos syndrome
depends on tissue involved, mode of inheritance and
biochemical defect. Of the ten types identified, types
I, II & III, that have autosomal dominant inheritance
accounts for 90% of the cases. New mutations with lack
of family history are reported in more than 50% (Table
33.12).
Prenatal diagnosis is possible by ultrasound

examination, which shows O shaped mouth and
restricted movements, polyhydramnios, etc.
Beals Contractural Arachnodactyly (Figs 33.10g1-3)
The disorder results from mutation of FBN-2 gene on
chromosome 15 and is inherited as an AD disorder. The
Restrictive Dermopathy (Fig. 33.10f)

It is an AR disorder that presents in neonatal period
with aplasia cutis or rigid skin, characteristic face (open
round mouth, hypertelorism, a small nose and mouth,
micrognathia and low set ears, absence of eyelashes and
eyebrows) and multiple joint contractures, death results
from respiratory failure because of rigid thorax, thin,
dysplastic clavicles, ribbon like ribs, poorly mineralized
skull are some of the radiologic features.
Fig. 33.10f: Restrictive dermopathy. Note downward slant of

eyes, hypertelorism, pinched nose, blepharophimosis,
microstomia with trismus, low set ears, micrognathia, and
skin erosion, transparent skin with easily visible blood vessel,
rigid skin, long nails
Fig. 33.10g(1): Beals contractural arachnodactyly.

Note cotractures at ankle joints
Fig. 33.10g(2): Beals contractural arachnodactyly.

Note arachnodactyly
330
Fig. 33.10g(3): Cutis laxa. Loose folds of skin, sagging jowls,

long upper lips. It may be inherited as AR, AD or XLR trait.
This condition has to be differentiated from Ehlers-Danlos
syndrome
disorder is often confused with Marfan syndrome, but

is a separate entity. Joint contractures present at birth
involving fingers, knees, hips and elbows to varying
extent and crumpled helix are characteristic features.
The most serious complication is scoliosis. The
contractures in this syndrome improve with age. Eye
and cardiac manifestations are rarely reported.
A severe congenital variety is reported which, often
as cardiac malformation, restrictive lung disease and
duodenal atresia in addition to the usual features of
arachnodactyly, contractures and crumpled helix.
Fig. 33.11a(1): Incontinentia pigmenti
Harlequin Syndrome
TUMORS AND HAMARTOMAS

Incontinentia Pigmenti (Figs 33.11a1-3)
Between birth and 6 weeks of age a linear vesicular
eruption appears on the trunk followed within a week
by warty eruption, which might persist up to 1 year of
age. The most serious abnormality is mental retardation
and seizures. Other anomalies are eye anomalies
(anophthalmia, cataract, optic atrophy, detached
retina), vertebral anomalies, and teeth abnormalities.
X-linked dominant inheritance with intrauterine lethality
in males is seen.
Fig. 33.11a(2): Incontinentia pigmenti. multiple small

pigmented bullae, whorled skin pigmentation other features
include seziures, microphthalmia inherited as X linked
dominant. Lethal in male hence only female are born
Sturge-Weber Syndrome
Consists of constellation of symptoms and signs including
a facial nevus (Portwine stain), seizures, hemiparesis,
intracranial calcification and in many cases mental
retardation. The incidence is one in 50,000 births.
Fig. 33.11a(3): Incontinentia pigmenti. Note linear skin

pigmentation in young infant
The facial nevus is present at birth and tends to be

usually unilateral and always involves upper face and
eyelid. Nevus may be seen in other areas as well.
Buphthalmos of the ipsilateral eye can occur. Seizures
develop in the first year and typical railroad calcification
of cerebral vessels is seen along with cortical atrophy
at around 10 years of age.
Neurocutaneous Melanosis Sequence
(Fig. 33.11b)
Neurocutaneous melanosis (NCM) is a sporadic unusual
congenital neurocutaneous syndrome characterized by
the presence of gaint or multiple nevi and extensive
proliferation of melanotic cells in the central nervous
system occurring once in 20,000 live births. Gaint
pigmented nevi are usually seen in bathing trunk area,
less frequently in the occipital region or upper back.
Fig. 33.11b: Melanosis sequence
Some times, small or medium sized congenital

melanocytic nevi are seen on the scalp, face, or neck
in association with the large lesions. The essential
pathologic characteristic of the central nervous system
in NCM is overpopulation of melanotic cells in the
leptomeninges. Central nervous system function may
be normal initially, but seizures and mental deterioration
may begin before 1year of age, apparently related to
progression of the melanoblastic involvement of the
pia-arachnoid, leading to increased intracranial pressure,
spinal cord compression and to diffuse or localized
malignancy that occurs in greater than 50% of patients.
The neurologic complications include, chronic basal
meningitis, seizures, hydrocephalus and rarely subdural
and intracranial hemorrhage. Majority of patients die
before 2years of age and only 10% of the patients are
known to have survived past the age of 25 years.
The syndrome seems to be morphogenesis error of
the embryonic neuroectoderm. The genetic mechanism
underlying these complex birth defects has been
hypothesized to result from the action of lethal
autosomal dominant genes surviving by mosaicism.
Hypomelanosis of Ito (Fig. 33.11c)
An etiologically heterogeneous (chromosomal or genetic
mosaicism) condition characterized by characteristic skin
Fig. 33.11c: Hypomelanosis of Ito in an older child
332
lesions showing streaked, whorled, or mottled areas of

hypopigmentation on limbs and trunk usually evident
in infancy.
Mental retardation, seizures and cerebral atrophy are
common associations.
Tuberous Sclerosis (TS) (Fig. 33.11d)
It is inherited as an AD trait, occurring once in 6000
births. TS gene is located on chromosome 9q (TSC1)
and 16p (TSC2)
Fifty per cent cases occur as inherited cases and
remaining as sporadic cases. The classic triad of TS
includes adenoma sebacium (malar angiofibromas),
mental retardation, and convulsions. But in neonatal
period the manifestation include hypopigmented patches
(ash leaf spots), forehead fibromas, myoclonic jerks.
Investigation may reveal renal cysts (angioleiomyoma),
cardiac rhabdomyoma. Hypopigmented patches are
better seen with Woods lamp. CT features of calcified
tubers in periventricular area develop after 3-4 years.
Shagreen patches develope around 2 years of age and
adenoma sebaceum at around 4 years of age.
Fig. 33.11e(1): Neurofibromatosis Type 1 AD disorder. Note

caf au lait spots over the babies trunk and neurofibromata
over mothers abdomen and right forearm
Fig. 33.11e(2): Neurofibromatosis Type 1 AD. Newborn with

caf au lait spots on mothers forearm and neurofibroma
Fig. 33.11d: Calcification in a case of tuberous sclerosis
Neurofibromatosis (NF) (Figs 33.11e1-2)

An AD disorder that exists in two forms: I and II. NFI occurs once in 400 births and is diagnosed by any
two of the following signs:
1. Six or more caf-au-lait spots over 5mm in prepubertal individuals and over 15mm in post pubertal
individuals. Caf-au-lait spots are present in 100%
cases of NF. They are present at birth but increase
in number and depth of pigmentation with age.
2. Axillary or inguinal freckling
3. Two or more iris Lisch nodules: Hamartomas
located within the iris and seen by slit lamp. They
are present in 75% cases of NF-I but not in NF-II.
They start appearing after 3 years and increase in
number and size with advancing age.
4. Two or more neurofibromas or one plexiform
neurofibroma

5. A distinctive osseous lesion such as sphenoidal
dysplasia (causing pulsations, exophthalmos) or
cortical thinning of long bones with or without
pseudoarthrosis.
6. Optic glioma occurs in 15% of NF-I
7. A first degree relative with NF-I
NF-II accounts for 10% of all cases of NF with an
incidence of 1 in 50,000. It usually presents late in life.
It is diagnosed by:
1. Bilateral VIII nerve masses (acoustic neuroma)
2. A parent, sib or child with NF-II
Hemangiomas (Figs 33.11f1-3)
These lesions result from developmental malformation
of blood vessels of the skin and subcutaneous tissue and
occasionally affecting internal organs like liver, kidney,
meninges, etc.The incidence of hemangiomas in term
infants is 1-2.6%. However 10-12% of children develop
hemangiomas and most of them are noticed at about
1 month of age. There are three types of hemangiomas:
1. Capillary hemangioma: It consists of a number of
inter communicating blood spaces of the size of
capillaries. It may present clinically as strawberry
nevus or as a port-wine stain as in Sturge-Weber
syndrome. Strawberry nevi appear few weeks after
birth and may grow slowly up to three years, but
eventually regress spontaneously around 7-8 years
of age. They rarely need treatment unless they are
in vital areas or rapidly growing, which are treated
by cortisone or laser therapy. Port-wine stain is
Fig. 33.11f(2): Hemangioma. Note hemangioma

over scalp and shoulder
Fig. 33.11f(3): Hemangioma. Nasal hemangiomas may

cause nasal obstruction. Oral steroids may help
Fig. 33.11f(1): Hemangioma. Note periorbital hemangiomas.

Same child after 4 weeks of steroid therapy
reddish discoloration of skin, the size of which may

vary. It is present at birth and remains throughout
life. Facial distribution is associated with vascular
malformation of the cerebral cortex and the
meninges (Sturge-Weber syndrome) and they may
cause seizures, mental retardation and motor deficits.
334
These cerebral vascular malformations may calcify

after 10-12 years and may cause rail road pattern
of calcification seen on skull X-ray.
2. Cavernous hemangioms: When the deeper
vasculature is involved the hemangioma is called
cavernous, which can extend into subcutaneous
tissue and even deeper into the muscles In these
hemangiomas the blood spaces called sinuses are
larger than capillaries and they inter communicate.
3. Plexiform hemangiomas: In these feeding vessels are
arterioles and cause pulsations. They are also called
as cersoid aneurysms.
Hemangiomas have a well-defined course consisting
of an early rapid growth phase, followed by slow
involution in most cases. Most of them regress by 57 years with most of this process occurring in first few
years of life. About 10% develop problems like
ulceration, infection, Kasabach-Merritt syndrome, and
disfigurement from rapid growth, occlusion or
compression of a vital structure or orifice and high
output failure.
Eyelid hemangiomas may cause amblyopia,
astigmatism, strabismus, ptosis, proptosis, exposure
keratitis, etc. The commonly used methods of treatment
include, surgical resection injection of intralesional
steroids, oral steroids, and laser therapy.
Fig. 33.11g(1): Proteus syndrome in a newborn
Fig. 33.11g(2): Proteus syndrome in an older child
Neuroblastoma
Teratoma
characteristic features are hemihypertrophy and

macrodactyly.
TERATOGENS
Cystic Hygroma
Congenital Rubella Syndrome
Congenital Rubella can involve many organs. Common

manifestations include IUGR, cataract, microphthalmia,
myocarditis, PDA, pulmonary artery branch stenosis,
blue berry Muffins skin lesions, sensory neural hearing
loss and meningoencephalitis.
Persistent infection leads to pneumonia, hepatitis,
bone lucencies, thrombocytopenic purpura and later
developmental delay. The triad of cataract, PDA and
sensory neural deafness is referred to as Congenital
Rubella syndrome.
Proteus Syndrome (Figs 33.11g1-2)

Proteus syndrome is a syndrome of unknown etiology
characterized by hemihypertrophy, subcutaneous
tumors and macrodactyly. Overgrowth may be seen all
over the body or may be part of the body, head is
usually big. Hyperpigmented areas (epidermal nevi),
Lipoma, lymphangioma, and hemangioma occur
over thorax and upper abdomen. The most

Specific IgM in neonatal serum or viral culture from
neonatesnasopharynx, or urine or tissues confirm the
diagnosis. Prenatal diagnosis of fetal Rubella can be
made by either isolating the virus from amniotic
fluid or by identification of rubella specific IgM in cord
blood.
First trimester infection causes rubella syndrome in
70% of cases. It is 90% if infection occurs before 11
weeks of pregnancy and is 10-20% by end of first
trimester. See also chapter 20.
Congenital Varicella Syndrome
When pregnant women contracts chicken pox about
25% of the fetus become infected. Two percent of
fetuses whose mother had varicella between 8-20
weeks of gestation show varicella embryopathy; most
features are due to virus induced damage to CNS.
VZV fetopathy includes cicatricial skin lesions
hypopigmentation, microphthalmia, chorioretinitis, optic
atrophy, cataract, microcephaly, hydrocephaly, cerebral
calcification, hypoplasia of an extremity, Horners
syndrome and urinary sphincter disturbances and
absent tendon reflexes.
Viral DNA can be detected in tissue sample by PCR.
See also chapter 20.
Fig. 33.12a(1): Jarcho Levin syndrome. Multiple vertebral

defects consists of hemi-vertebrae abnormal and crowdedribs are the radiological features. Anteverted nostrils, broad
forehead and upslanting eyes, short neck, broad chest are
some of the clinical features condition is inherited as
autosomal recessive trait. See X-ray
CMV
Toxoplasmosis
Fig. 33.12a(2): Jarcho Levin syndrome. Multiple vertebral

defects: hemi-vertebrae abnormal and crowded-ribs other
features include anteverted nostril, broad forehead, upslanting eyes, short neck, note abdominal distention. Autosomal
recessive inheritance
Syphilis
MISCELLANEOUS SYNDROMES
Jarcho Levin Syndrome (Figs 33.12a1-3)
It is an autosomal recessive syndrome characterized by
short neck, costovertebral dysostosis, crab like flaring
of chest or absence of ribs, protuberant abdomen and
abnormal thorax. These infants die early due to
pulmonary complications due to small thorax.
Fig. 33.12a(3): Jarcho

Levin syndrome. Showing
costovertebral dysostosis
crab-like flaring of ribs.
Note short neck, various
spinal abnormalities and
abdominal distention
336
Fig. 33.12b: Leprechaunism. Emaciated appearance

hirsutism, thick lips, wide nostrils, large clitoris, inheritance
AR. Other features include prominent eyes, mental
retardation, low birth weight, hyperinsulinism
Fig. 33.12c: Lipodystrophy. Hirsutism with lipoatrophy

later develop insulin resistance, diabetes mellitus
Leprechaunism (Donohues Syndrome)

(Fig. 33.12b)
An autosomal recessive disorder due to mutation in
INSR (insulin receptor) gene, characterized by growth
retardation, severe failure to thrive, generalized
lipodystrophy, hirsutism, protuberant abdomen,
umbilical and inguinal hernias, large penis or clitoris,
aged face, microcephaly, large low set ears, hypertelorism, large mouth, gum hypertrophy, breast
engorgement, prominent eyes, depressed nasal bridge,
broad nasal tip, thick lips and micrognathia. Relatively
large hands and feet, acanthosis nigricans, hyperplasia
of pancreatic islets and cryptic gonadal changes are seen
at autopsy. The syndrome is characterized by insulin
resistance and prenatal diagnosis is reported by
molecular analysis of the insulin receptor gene.
Fig. 33.12d: Milroys disease
Lipodystrophy (Fig. 33.12c)
Milroys Disease (Fig. 33.12d)
It is a hereditary disorder of generalized deficiency of

adipose tissue which can sometimes present at birth
with hirsutism, coarse skin with hyperpigmentation,
abundant curly scalp hair, generalized lipoatrophy,
macrosomia with increased length.
A disorder with congenital lymphedema.

Infantile Polycystic Kidney
SEQUENCES AND ASSOCIATIONS

Amniotic Rupture Sequence (ABS)
(Figs 33.13a1-15)
Early rupture of the amnion results in mesodermic
bands that emanate from the chorionic side of the
amnion and insert in the fetal body, leading to
amputation, constriction and postural deformities
secondary to immobilization.The abnormalities may
sometimes simulate genetic dysmorphic syndromes.But
careful examination of defects and examination of
placenta can aid in making a diagnosis.This is extremely
important in counseling the parents.
Fig. 33.13a(1): Amniotic band sequence. Note constricting

band almost touching bone over right limb
Fig. 33.13a(2) Amniotic band sequence. Note amniotic band

(arrow) placenta ( pl ). Antenatal diagnosis of amniotic band
Fig. 33.13a(3): Amniotic band sequence.

Note amputations of fingers
Fig. 33.13a(4): Amniotic band sequence. Note constricting band

with distal limb edema right foot and left toe amputations
Fig. 33.13a(5): Amniotic band sequence. Note amputations

of left forearm and deformity of lower limbs
338
Fig. 33.13a(6): Amniotic band sequence. Note syndactyly,

brachydactyly due to amniotic bands
Fig. 33.13a(9): Amniotic band sequence. Note constriction
band with talipes and brachysyndactyly

Note constriction left leg

Note amputation of fingers
Fig. 33.13a(10): Amniotic band sequence. Note amputation

of digits and incidental staphylococcal scalded skin
syndrome
Fig. 33.13a(11): Amniotic band sequence. Amniotic band

causing encephalocele, facial disruption and limb body wall
complex. Note band being lifted
Fig. 33.13a(14): ABS causing transverse limb defect

Fig. 33.13a(12): Amniotic band. Note facial disfigurement
due to amniotic band sequence
Fig. 33.13a(15): Amniotic band sequence

transverse limb defect
Abnormalities include;
Limb defects: Multiple, asymmetric, constriction rings
of limbs and digits, amputation of limb or digits.
Pseudosyndactyly, abnormal dermal ridge pattern,
simian crease and club feet.
Craniofacial defects: Encephalocele, multiple and
asymmetrical anencephaly, facial clefting lip/palate
severe nasal deformities, asymmetrical microphthalmia,
incomplete or absent cranial calcification.
Visceral defects: Gastroschisis, omphalocele
Fig. 33.13a(13): Amniotic band sequence. Occipital
encephalocele due to amniotic bands
Ref. Am J Obstet Gynecol 91; 65, 1965, J Pediatr 95: 544,

1979, Am J Obstet Gynecol 144; 243: 1982.
340
Limb Body Wall Sequence (Figs 33.13b1-7)

Limb body wall complex is a variable set of disruptive
anomalies, including lateral body wall defect involving
thorax, abdomen or both, skeletal abnormalities of the
spine, lower or upper limb reduction anomalies and
failure of umbilical cord development. The incidence
is 1:50,000 births. The defects observed in the limb
body wall complex are incompatible with extrauterine
life. Most infants are stillborn, or succumb in the early
neonatal period due to respiratory insufficiency.
The diagnosis of this entity is based on two of the
three following characteristics.
1. Exencephaly/encephalocele and facial clefts
2. Thoraco and/or abdominoschisis and
3. Limb defects
Associated malformations include central nervous
system lesions (64%), like exencephaly, encephalocele,
Fig. 33.13b(3): Limb body wall complex

ectopia cordis, sternal cleft, cardiac defects and an upper

midline omphalocele (pentalogy of Cantrell). Failure of
closure of the caudal body fold results in exstrophy of
the bladder, imperforate anus, partial colonic agenesis
and agenesis of one umbilical artery together with
hypogastric omphalocele. Aplasia or hypoplasia of the
paraspinous or thoracolumbar musculature is
responsible for severe scoliosis. Insufficiency in both
cephalic and caudal body folding leads to a combination
of the above mentioned features. Differential diagnoses
of limb body wall complex include early amnion
rupture, extra amniotic pregnancy, omphalocele,
pentalogy of Cantrell and gastroschisis.
Prenatal diagnosis of limb-body wall complex is
done by ultrasonography. Ultrasonographic detection
of abdominoschisis, scoliosis, abnormalities of the lower
extremities, a single umbilical artery and a short
umbilical cord is important for the prenatal diagnosis.
Association with very high maternal serum and amniotic
fluid alpha-fetoprotein has been reported.
Sirenomelia (Figs 33.13c1-4)
Fig. 33.13b(7): Limb body wall complex. Note anencephaly,

thoracoabdominal evisceration and limb defects
meningomyelocele and hydrocephalus, midfacial

(defects (40%), absent diaphragm (74%), cardiac
defects (43%), gastrointestinal malformations (100%)
(malrotation, intestinal atresia, anal atresia), renal
abnormalities (65%), genital abnormalities (56%),
amniotic bands (40%) and placental abnormalities.
The body stalk malformation results from a defect
in the germinal disc, leading to an abnormal body
folding, an abnormal amniotic cavity formation and a
failure to obliterate the extraembryonic coelom. This
accounts for the short or absent umbilical cord and the
broad insertion of the amnio-peritoneal membrane
onto the placental chorionic plate. Cephalic body fold
defects lead to an anterior diaphragmatic hernia,
Sirenomelia, is an anomalous development of the

caudal region of the body, with varying degrees of
fusion of lower limbs. It is an exceptionally rare
congenital malformation characterized by a single fused
lower limb. Incidence of this rare anomaly is
approximately 1/1,00,000 births. Various anomalies like
vertebral defects, renal agenesis, imperforate anus,
neural tube defects, etc. occur associated with sirenomelia.
Normally, the umbilical cord contains two arteries
originating from the iliac arteries which return the blood
to the placenta. In many sirenomelia cases, a single
umbilical artery is found originating from the abdominal
aorta. The aorta distal to the origin of this major vessel
is always subordinate and gives no tributaries, especially
renal or inferior mesenteric arteries, before it bifurcates
into iliac arteries. This vascular alteration leads to a
Vitelline artery steal in which blood is diverted from
the caudal structures of the embryo to the placenta.
This is considered responsible for fused limbs, sacral
dysgenesis, vertebral defects, imperforate anus and
absence of rectum, absence of genitalia, and absence
342
Fig. 33.13c(2): Sirenomelia

Fig. 33.13c(4): Sirenomelia (Radiological spectrum)

of bladder that occurs in sirenomelia. Association of
omphalocele, exomphalos, pentalogy of Cantrell and
limb bodywall complex in sirenomelia cases suggests a
common etiology similar to vascular steal leading to
ventral developmental defects in these conditions.
Caudal regression syndrome comprises developmental anomalies of the caudal vertebrae, neural tube,
urogenital and digestive organs and hind limbs; the
precursors of all of which are derived from the caudal
eminence. This anomaly is encountered in babies of
diabetic mothers. The overlapping of associations in
caudal regression syndrome and sirenomelia, made
researchers consider sirenomelia as a severe manifestation of caudal regressions syndrome.
Association of cranial defects like hydrocephalus,
cebocephaly, holoprosencephaly, anencephaly etc. in
many reported cases of sirenomelia could not be
explained by caudal regression or vascular steal alone.
So also the association of radial dysplasia (a component
of VACTERL anomaly) with sirenomelia is inexplainable
with the above hypothesis. These heterotopic defects
in multiple congenital anomalies can be better understood by the recent concept of primary developmental
defect during blastogenesis. Blastogenesis is the period
in embryonal development extending from time of
fecundation to the end of gastrulation (4th week). It
is during this period that the undifferentiated regions
of embryo (primary field) get differentiated to areas of
specific morphogenetic fates (progenitor fields). A single
hit during this period may produce defects in different
progenitor fields producing polytopic manifestations.
The heterogeneity depends on the timing and intensity
of this hit.
Fig. 33.13d(1): Oligohydramnios sequence. Potters facies
Oligohydramnios Sequence (Figs 33.13d1-4)

Oligohydramnios or decreased amniotic fluid seen in
about 0.5% of pregnancy. Oligohydramnios may be a
direct manifestation of an underlying anomaly like renal
agenesis. The presence of oligohydramnios will have
secondary effects on fetus due to fetal compression and
pulmonary hypoplasia. The typical face is characterized
by flat face, big nose with flat nasal tip, low set ears,
receding chin and prominent skin folds along the cheeks
(Potters face).
344
Table 33.13: Summary of effects of oligohydramnios
Renal agenesis, urethral atresia

Renal dysplasia
IUGR
Postmaturity
Obstructive uropathy
Potters syndrome
Fetal limb defects
Fetal facial defects
Amnion nodosum
Prune belly syndrome
Club foot
Intestinal pseudoobstruction
Umbilical cord compression during delivery
Fig. 33.13e(1): Early urethral obstruction sequence.

Note huge dilated abdomen
In prolonged pregnancy, chronic amniotic fluid leak

or diminished uterine height should lead to the
suspicion of oligohydramnios. Several ultrasonographs
should be done to monitor fetal growth and amniotic
volumes.
Other adverse effects of oligohydramnios on the
fetus are depicted in Table 33.13.
Early Urethral Obstruction Sequence
(Figs 33.13e 1-3)
Urethral valve, urethral atresia, a bladder neck obstruction or distal urethral obstruction early in embryogenesis
results in bladder distention. It occurs predominantly
in males with male to female ratio of 20:1. The bladder
valve distention causes hydroureter and renal dysplasia
or may cause severe abdominal distention leading to
Fig. 33.13e(2): Early urethral obstruction sequence.

Note hypertrophied bladder and open abdomen
abdominal muscle deficiency and excessive abdominal

skin. Early bladder distention can also lead to persistent
Fig. 33.13e(3): Early urethral obstruction sequence
urethral valves, colonic malrotation, iliac vessel

compression which causes lower limb deficiency and
cryptorchidism. The bladder may rupture. Most babies
die in mid or late pregnancy. The condition can also
occur as a component of VATER association. See prune
belly syndrome in chapter 32.
Exstrophy of the Bladder or Ectopia Vesicae
(Fig. 33.13f)
This anomaly occurs once in 30,000 births. Exstrophic
anomalies include bladder exstrophy, epispadiasis and
cloacal exstrophy. These conditions result from a
premature breakdown of the infraumbilical membrane
(mesoderm) to varying degrees. Normally, this
membrane invades the entire cloacal membrane except
at the urogenital floor, where the genital tubercles fuse.
Failure of the infraumbilical membrane to invade the
cloacal membrane results in vesicle exstrophy alone,
representing an intermediate spectral deficiency in its
lining. If it occurs before the formation of the urorectal
septum, the more severe cloacal exstrophy results. If
it occurs still later epispadiasis results.
The anatomic defects include an absent umbilicus,
protrusion of an exposed posterior bladder wall
mucosal surface with its striking cherri red colour, the
Fig. 33.13f: Exstrophy of baldder (Ectopia vesicae)
ureteral orifices spurting urinary effluxes and sharp

demarcation between the exposed bladder mucosa and
the surrounding skin. There is gap in pelvic symphysis,
dorsally tethered incomplete penis, ventrally incomplete
prepuce, broadly splayed glans, short urethral mucosal
strip between the bladder and the glans, but a normally
descended testis and an underdeveloped scrotum. In
females, divergent labia and mons, bifid clitoris and large
external urinary meatus occurs.
Caudal Dysplasia Sequence (syndrome)
(Fig. 33.13g)
The structural abnormalities include varying degrees of
incomplete development of sacrum, to a less extent,
lumbar vertebrae. Absence of sacrum leads to flat
buttocks, short interglutial cleft, dimpling of buttocks,
346
Fig. 33.13h: Klippel-Feil sequence
Fig. 33.13g: Caudal dysplasia sequence
disruption of distal spinal cord leading to incontinence

of urine and stool.
Severely affected infants have flexion and abduction
of hips, popliteal webs and TEV. Renal agenesis,
imperforate anus, cleft lip/palate, microcephaly, and
meningomyelocele occasionally occur. Maternal
diabetes is associated with this syndrome in 16% of
cases.
Fig. 33.13i(1): VATER association. Note anal atresia
Klippel-Feil Sequence (Fig. 33.13h)

This sequence is characterized by fusion of cervical
vertebrae and short neck, which can cause webbing of
neck and torticollis. It is more common in females and
the incidence is estimated to 1 in 42,000 births. This
sequence can be a part of iniencephaly, cervical
meningomyelocele. Syringomyelia or syringobulbia.
Deafness is found in 30% of cases.
VATER Association (Figs 33.13i1-2)
This association is an acronym for vertebral defects, anal
atresia, tracheoesophageal fistula with esophageal atresia
and radial and renal dysplasia. Single umbilical artery
Fig. 33.13i(2): VATER association. Note genital abnormality,

anal atresia, radial dysplasia, Vertebral anomalies, anal
atresia, cardiac defects tracheoesophageal fistula, radial/
renal, limb defects

and cardiac defects are also associate, and some times,
the association is also called VATERS to include
ventricular septal defect and single umbilical artery. The
exact etiology is unknown; it is sporadic in occurrence.
Arthrogryposis
Holoprosencephaly Sequence
Renal Agenesis
Fig. 33.13j(2): CHARGE association.

Note ear anomalies
Spinal Dysraphism Sequence

Twin: Conjoined and Acardia
Hypothyroid Sequence
CHARGE Association (Figs 33.13j1-9)
CHARGE acronym consists of Coloboma, Heart
disease, Atresia choane, Retarded growth and
development, and or CNS anomalies, Genital
anomalies, and or hypogonadism and, Ear anomalies
and or Deafness.
Fig. 33.13j(1): CHARGE association. Note genital

abnormality
Fig. 33.13j(3): CHARGE association.

Note genital abnormality
Fig. 33.13j(4): CHARGE association
348
Fig. 33.13j(5): CHARGE association. CHARGE acronym

consists of Coloboma, heart disease, atresia choane,
retarded growth and development, and or CNS anomalies
genital anomalies, and or hypogonadism and, ear
anomalies and or deafness
Fig. 33.13j(8): CHARGE association
Fig. 33.13j(6): CHARGE association. Note bony atresia

posterior choane bilateral (arrow)
Fig. 33.13j(9): CHARGE association. MCU showing

vesicoureteric reflux with cystitis
BIBLIOGRAPHY
Fig. 33.13j(7): CHARGE association. Note hydronephrosis
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APPENDICES
APPENDIX-1
Salient Features of Selected Neonatal Syndromes
For diagnosis of multiple malformation syndromes, developing

a mental picture is of paramount importance. Reading
exhaustive literature may not help in developing one. A brief
and concise synopsis of various syndromes listed below will
help the reader to conceive and comprehend to develop the
most needed mental picture of a syndrome. For better
delineation, the synopsis includes the most glaring and
important features.
SYNDROMES WITH DISORDERED GROWTH
Cornelia de Lange
Growth retardation
Microbrachycephaly
Micrognathia
Bushy eyebrows, synophrys
Micromelia, syndactyly, oligodactyly
Cardiac defects
Genital defect
Russell-Silver Syndrome
Severe growth restriction at birth

Asymmetry
Prominent head large AF
Triangular face thin upper lip, large ears
Clinodactyly, syndactyly of II and III toes
Seckel Syndrome
IUGR
Microcephaly
Micrognathia
Clenched hands syndactyly II III
Valgus feet, polydactyly
Micropenis
Genital abnormality
Renal abnormality
Beckwith-Wiedemann Syndrome
Omphalocele
Macroglossia
Organ hypertrophy especially kidneys
Infant of Diabetic Mother
Macrosomia
Caudal regression syndrome
Congenital heart diseases
Noonan Syndrome
Short stature
Short neck
Lymphedema neck, feet
Pulmonary stenosis ASD
Micropenis
Cryptorchidism
Hemi vertebrae
Johnson-Blizzard Syndrome
Hypoplastic alae nasi

Midline scalp defects
Frontal up sweep
Hypothyroidism
Deafness
Pancreatic insufficiency
Hallermann-Streiff Syndrome
Microphthalmia
Small pinched nose
Hypotrichosis
Neonatal teeth
Cataracts
Robinow Syndrome
Flat face
Frontal bossing
Prominent, down slant eyes
Small upturned nose
Triangular mouth
Micrognathia alveolar ridge
Short forearm
Small hands
Hypogenitalism
Wide anterior fontanel
352
SYNDROMES WITH MAJOR FACIAL DEFECTS

Fraser Syndrome
Cryptophthalmos
Ear and nose anomaly
Syndactyly
Genitourinary abnormality
Laryngeal stenosis
Inner canthal fold

Lateral displacement of inner canthi
Waardenburg Syndrome
White forelock
Dystopia canthorum
Deafness
Hirschsprungs disease
Goldenhar Syndrome
Hemifacial atrophy
Ear anomaly with tags
Hypoplastic mandible
Macrostomia
Vertebral anomalies
Oro-Facial-Digital Syndrome
Facial clefts
Broad nasal bridge
Bifid nasal bridge
Bifid nasal tip
Micrognathia
Multiple clefts of tongue
Polysyndactyly, bifid hallux
Clinodactyly of fifth finger
Pierre Robin Syndrome
Micrognathia
Glossoptosis
U-shaped cleft palate
Treacher Collins Syndrome
Micrognathia
Antimongoloid eye slant
Notch in lower eyelid
Abnormal auricles, skin tags
Cleft palate
Medium Cleft Face (Frontonasal Dysplasia)
Hypertelorism
Median cleft lip
Split nose
Van der Woude Syndrome
Lip pit-cleft lip

Lower lip pit (s)
Cleft lip
Blepharophimosis Syndrome
Ptosis
SYNDROMES WITH PRIMARY BRAIN/NEUROMUSCULAR

ABNORMALITY
Meckel Gruber Syndrome
Encephalocele
Polydactyly
Cystic kidneys
Microcephaly
Microphthalmia
Cleft palate
Cryptorchidism
Heart defects
Various brain abnormalities
Neu-Laxova Syndrome
Microcephaly
Hypertelorism
Protruding eyes
Absent lids
Cataract
Microphthalmia
Syndactyly
Ichthyosis
Various brain abnormalities
Walker Warburg Syndrome (Hard E)
Hydrocephalus
Agyria
Retinal dysplasia
With or without encephalocele
X-linked Hydrocephalus
Males
Aqueductal stenosis
Adducted thumbs flexed over palms
Zellweger Syndrome
Hypotonia
High forehead
Flat face
Hepatorenomegaly
Appendices
Menkes Kinky Hair Disease
Twisted fractured hair

Seizures
Progressive CNS deterioration
XLR inheritance
Schwartz Jumpel Syndrome
Myotonia
Blepharophimosis
Joint movement limitation
353
Radial dysplasia
Ulnar and humeral abnormality
ASD /VSD
Larsen Syndrome
Hyperextension of knees
Dislocated elbow, knee, hip
Club feet
Depressed bridge of nose
Cleft palate
Hypertelorism
COFS Syndrome
Neurogenic arthrogryposis
Microcephaly
Micrognathia
Microphthalmia
Cataract
Blepharophimosis
Large ears
Rocker bottom feet
Multiple Pterygium Syndrome (Lethal)
Flexion contractures and pterygia at chin, axilla, elbow,

popliteal, ankle joints
Neck edema (cystic hygroma)
Micrognathia
Cleft palate
Hypertelorism.
Roberts Syndrome
SYNDROMES WITH LIMB ANOMALIES
EEC Syndrome
Cleft lip with or without cleft palate

Ectrodactyly, syndactyly
Various genitourinary abnormalities
Femoral Hypoplasia Unusual Face Syndrome
Cleft palate, micrognathia, large ears

Short, bowed, femora (uni or bilateral)
Vertebral sacral anomaly
Variable hypoplasia of humeri
Urinary tract abnormalities
Severe hypomelia of limbs (mainly upper limb)

Contractures at joint
Oligosyndactyly
Microcephaly
Micrognathia
Hypertelorism
Cleft lip.
TAR Syndrome
Bilateral absence of radius with ulnar hypoplasia

Abnormal humeri
Thumb always present
Abnormal lower extremities
Thrombocytopenia.
Freeman Sheldon Syndrome (Whistling Face Syndrome)
Sloping forehead
Small nose
Long philtrum
Pursed lips
Contractures at joints
Ulnar deviation of hands
Flexion contractures of fingers
Kyphoscoliosis
Holt Oram Syndrome
Phocomelia
Grebe Syndrome
Marked distal limb reduction

Shortening progressing from proximal to distal
Upper limbs more severely involved, grape like fingers
Polydactyly
Normal trunk, face and intelligence.
Popliteal Pterygium Syndrome
Popliteal web
Cleft palate
Lower lip pits
354
SYNDROMES WITH FACIAL LIMB MALFORMATION

Otopalatodigital Syndrome II
Prominent forehead
Hypertelorism
Antimongoloid slant
Flat nasal bridge
Micrognathia
Cleft palate
Clenched fingers
Low set and malformed ears
Short trident hand with short fingers

Abnormal acetabular roof in newborn
Exaggerated lumbar lordosis.
Campomelic Dysplasia
Marked bowing of femur and tibia (mimicking fractures)

Hypoplastic fibulae
Bell-shaped narrow thorax
Cleft palate
Hypertelorism.
Occasional cardiac, renal, genital abnormalities.
Stickler Syndrome
Pierre-Robin sequence
Flat face
Buphthalmos
Myopia
Arachnodactyly
Hypotonia.
Langer Giedion Syndrome
Bulbous nose
Loose skin
Multiple exostosis.
Trichorhinophalangeal Syndrome
Bulbous nose
Sparse hair
Epiphyseal coning
Short metacarpals and metatarsals (IV and V).
SYNDROMES OF SKELETAL DYSPLASIAS
Chondrodysplasia Punctata
Rhizomelic shortening
Stippled calcification of epiphysis
Brachycephaly
Hypertelorism
Cataract.
Cleidocranial Dysostosis
Big head
Wide fontanel and sutures
Short or absent clavicle
Hypoplastic iliac bones.
Diastrophic Dysplasia
All bones are very short

Club feet
Kyphoscoliosis
Hitch hiker thumb
Micrognathia
Cleft lip.
Achondrogenesis I and II
Type I
Lethal skeletal dysplasia
Large and poorly ossified skull
Micrognathia, severe shortening of limbs
Narrow chest, short ribs
Poorly ossified iliac bones and spine.
Type II
Relatively normal skull ossification
More variable shortening of limbs
Complete absence of spine, ossification differentiate it from
type one
Ellis-van Creveld Syndrome
Short long bones

Polydactyly
Narrow thorax
Short ribs
Heart defects (ASD).
Hypophosphatasia (Lethal type)
Marked demineralization of skull

Short-bowed and demineralized bones with fractures
Decreased serum alkaline phosphatase
Increased excretion of ethanolaminic acid in urine.
Achondroplasia (Hetero)
Large head with frontal bossing

Depressed nasal bridge
Mild rhizomelia in newborn
Jeune Thoracic Dystrophy
Short long bones

Narrow chest and short ribs causing asphyxia
Appendices
Polydactyly
Renal cysts.
Short Rib Polydactyly II (Majewaski)
Shortening of all bones

Pre/post axial polydactyly of hands/feet.
Short narrow thorax
Cleft palate.
Metatrophic Dysplasia
Big head
Short limbs with relatively big hands/feet
Short femora
Metaphyseal flaring
Narrow long thorax
Platyspondyly
Kyphoscoliosis
Sacral tail (characteristic if present).
Short Rib Polydactyly [Saldinonoonan (I) and Naumoff

(III)]: Two Spectrums
Severe micromelia
Very short ribs
Poorly mineralized vertebrae
Polydactyly
Narrow thorax
Heart defects
Imperforate anus
Intestinal atresia
Hypoplastic/polycystic kidneys
Ambiguous genitalia.
Thanatophoric Dysplasia
Telephone receiver femora

Fibula shorter than tibia
Narrow chest
Flat vertebrae
Big head, frontal bossing
II Clover leaf skull with features of type I
Vertebrae are bigger
Femora are straighter
Fibrochondrogenesis
Wide fontanel and sutures

Large eyes and cornea
Short nose
Long philtrum
Cleft palate
355
Rhizomelic short limbs

Long bones: Dumbbell-shaped with irregular metaphysis
Hypoplastic ilia
AR mostly lethal
SYNDROMES WITH CRANIOSYNOSTOSIS

Apert Syndrome
Acrobrachycephaly
Flat face
Hypertelorism
Syndactyly (osseous and cutaneous) of II, III, IV fingers
Broad hallux and thumb.
Carpenter Syndrome
Brachyacrocephaly
Micrognathia
Clinodactyly, syn/polydactyly
Heart defects
Omphalocele
Hypogonadism.
MISCELLANEOUS SYNDROMES
Jarcho-Levin Syndrome
Short neck
Costovertebral dysostosis
Crab like flaring or absence of ribs, thoracic abnormality
Protuberant abnormality
Occasional genital and renal abnormalities.
Infantile Polycystic Kidney
Enlarged echogenic kidney with lack of architecture

Micrognathia
Hepatic cysts
Congenital hip dislocation.
Leprechaunism
Prenatal adipose deficiency

Wrinkled loose skin
Full lips
Abdominal distention
Islet cell hyperplasia
Large phallus
Hirsutism
Large hands and feet
Insulin resistance.
Milroys Syndrome
Congenital lymphedema mainly of lower limbs.
356
Incontinentia Pigmenti
Caudal Regression Sequence
Irregular pigmented linear skin lesions over limbs and trunk.

Only females are affected
CNS and eye, hair, nail, bone abnormalities.
Hypomelanosis of Ito
Streaked, whorled or mottled areas of hypopigmentation on

limb/ trunk in infancy
Mental retardation, seizures
Macrocephaly
Hypertrichosis
Skeletal anomalies
Flexion contractures of lower limbs

Femoral hypoplasia
Talipes equinovarus
Sacral agenesis
Pelvic deformities
CHARGE Association
Neurocutaneous Melanosis
Holoprosencephaly Sequence
Melanosis of skin and Pia-arachnoid

CNS deterioration
Sturge-Weber Syndrome
Flat facial hemangiomata

Meningeal hemangiomata with seizures.
Lipodystrophy
Lipoatrophy
Phallic hypertrophy
Hepatomegaly
Hyperlipemia
Diabetes mellitus.
SEQUENCES AND ASSOCIATIONS

Amniotic Band Sequence
Encephalocele
Asymmetric anencephaly
Micrognathia
Facial cleft
Constriction and amputation of limbs
Limb body wall complex
Gastroschisis
Syndactyly
Clenched hands
Fixed extremities
Arms flexed
Hyperextended knees
Clubbed feet
Clenched hands
Varying degree of incomplete separation of cerebral

hemispheres (Alobar, semilobar)
Alobar
Absent inner-hemisphere fissure

Single central ventricle
Fused thalami
Absent third-ventricle
Absent olfactory bulb
Cyclopia
Cebocephaly
Median cleft lip/palate
Hypotelorism
Maxillary hypoplasia
Lobar
Some fusion of lateral ventricles and singulate gyrus

Absent cavum septum pellucidum
Separate lateral ventricles except for frontal horns
Semilobar
Arthrogryposis
Choanal atresia
Heart defects
Atresia Ani/esophagus
Retarded growth
Genital abnormality
Ear anomaly
Partially-separated posterior cerebral hemispheres with single

ventricle
Klippel-Feil Sequence
Short neck
Fusion of multiple cervical vertebrae
Low set ears
Appendices
Pena-Shokeir Syndrome
357
Hypothyroid Sequence
Multiple contractures of limbs

Ulnar deviation of hands
Talipes equinovarus
Clenched hand
Hypoplastic lungs
Cryptorchidism
Micrognathia
Hypertelorism
TRAP Sequence
Pentalogy of Cantrell
Five components include
Ectopia cordis
Omphalocele
Disruption of distal sternum
Anterior diaphragm
Diaphragmatic pericardium
Prune-belly Syndrome
Prune belly
Distended bladder, ureter
Megalourethra
Cryptorchidism
Conjoined Twins
Absent kidney
Narrow chest
Sirenomelia
Flat squashed face
Vertebral anomalies, VSD

Anal atresia
Tracheoesophageal atresia
Radial or and renal abnormalities
Sirenomelia
Fusion and severe deformities of lower limbs

Bilateral renal agenesis
Absent genitals
Imperforate anus
Abdominal wall defects
Potter face
Heart and lung defects
Oligohydramnios
Bladder distention abdominal distention hydroureter
renal dysplasia
Persistent urachus, colon malrotation, iliac vessel
compression, lower limb deficiency, cryptorchidism
Spinal Dysraphism Sequence
VATER Association
Craniopagus
Thoracopagus
Ischiopagus
Omphalopagus
Partial heteropagus
Early Urethral Obstruction Sequence
Renal Agenesis, Potters Sequence
Variably missing head, heart, upper limbs, lungs, pancreas,

upper intestine in recipient twin.
Defect in closure of neural tube

Defect in closure of anterior neural tube anencephaly
Defect in closure of posterior neural tube
Meningomyelocele hydrocephalus
Spina bifida
Club foot
Exstrophy of Bladder Sequence
Breakdown of cloacal membrane, exposing posterior wall

of bladder
Incomplete fusion of genital tubercles epispadiasis
Separated pubic rami
Oligohydramnios Sequences
Renal agenesis
Amnion nodosum
Pulmonary hypoplasia and death
Fetal compression Potters face, breach, abnormal position
of hands and feet.
358
TERATOGENS
Thalidomide
Phocomelia
Heart defect
Microtia
Duodenal atresia
Spinal abnormalities
Cytomegalovirus
Microcephaly
Brain atrophy
Hydrocephalus
Cardiomegaly
IUGR
Hepatosplenomegaly
Thrombocytopenia
Rubella Syndrome
Microcephaly
Cataract
PDA, pulmonary artery branch stenosis
Deafness
Hepatosplenomegaly
IUGR
Syphilis
Osteochondritis
Hepatosplenomegaly
Skin rashes
Mucocutaneous lesions
Toxoplasmosis
Cataract
Microcephaly
Ventriculomegaly
Hepatosplenomegaly
IUGR
Varicella Syndrome
Cicatrizing skin lesions

Club feet
Abnormal position of hands
CHROMOSOMAL ABNORMALITIES
Trisomy 13
Microcephaly
Holoprosencephaly
Midline cleft
Hypotelorism
Cyclopia
Camptodactyly
Polydactyly
Renal anomalies
Cardiac defects
Trisomy 18
Micrognathia
Microphthalmia
Hypertelorism
Clenched hands (with overlapping index finger)
Rocker bottom foot
CHD
Short sternum
Renal/GIT defects
IUGR
Trisomy 21
Microbrachycephaly
Upslant of eyes
Nuchal thickening
Small ears
Clinodactyly
Micropenis
CHD-endocardial cushion defects
Duodenal, anal atresia
Turner Syndrome
Short, webbed neck

Cystic hygroma
Wide chest
Coarctation of aorta
Horse shoe kidney
Lymphatic edema of limbs
FURTHER READING
1. Benacerraf BR (ed). Ultrasound of Fetal Syndrome, ed I
1998, Churchill Livingstone, New York.
2. Jones KL (ed) Smiths Recognizable Patterns of Human
Malformation. 5th edn 1997, WB Saunders Philadelphia.
3. Remero R, Pilu G, Jeanty P, Ghidini A, Hobbing JC (eds).
Prenatal Diagnosis of Congenital Anomalies. Appleton
and Lange, California.
4. Rumack CM, Wilson SR Charboneau JW (Eds). Diagnostic
Ultrasound 2nd edition 1998, Mosby, St. Louis.
Appendices
359
APPENDIX-2
General Information About Medical Genetics in India
Table 1: Genetic centers in India
Center for Genetic Disorders, Department of Human Genetics, Guru Nanak Dev University Amritsar
Department of Human Genetics and Anatomy, St. Johns Medical College
Bangalore
Department of Pediatrics and Hematology, Postgraduate Institute of Medical Education and Research
Chandigarh
Department of Genetics, Institute of Child Health and Institute of Obstetrics Gynecology
Chennai
Department of Genetics, Ramakrishna Mission Hospital
Kolkata
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences
Lucknow
Department of Pediatrics, KEM Hospital
Mumbai
ICMR Immunohaematology Center, KEM Hospital
Mumbai
ICMR Genetic Research Center, Indian Council of Medical Research, Wadia Hospital for Children
Mumbai
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences
New Delhi
Department of Genetic Medicine, Sir Ganga Ram Hospital
New Delhi
Genetics Center, Department of Pediatrics, BJ Medical College
Pune
Department of Zoology, Banaras Hindu University
Varanasi
Department of Pediatrics, JJM Medical College
Davangere
Table 2: Empiric risk of recurrence of isolated malformation
Malformation
Frequency per 1000 births
Anencephaly/Spina bifida
Cardiac malformation
Cleft lip and cleft palate
Cleft palate alone
Pyloric stenosis
Talipes equinovarus
Dislocation of hip
Hirschsprung disease
4-5
6-8
2
0.5
2-3
3-4
3-4
0.1
Recurrence for normal parents of one affected child

5%
3-4%
4-5%
2-6%
3%
2-8%
3-4%
6%
Table 3: Surveillance for early detection of problems in Down syndrome children

At birth
Within first year
Every year
Clinical examination and if necessary investigations for tracheoesophageal fistula, duodenal obstruction
and anal atresia.
Eye examination for cataract.
Chromosomal analysis
If translocation trisomy 21 is found, chromosome analysis of parents.
Thyroid stimulating hormone
Echocardiogram (within first week) clinical examination and if necessary, investigations for tracheoesophageal fistula, duodenal obstruction and anal atresia
Thyroid function tests (TSH1 T4)
Hearing evaluation
Eye examination for squint, refraction, cataract
Thyroid function test
Non-fasting lipids
Auditory assessment
Eye examination
Development assessment, physiotherapy and if needed speech therapy
360
Table 4: Causes of perinatal deaths
Genetic
Non-genetic
1. ChromosomalTrisomies, triploidy, tetraploidy, monosomy X, deletion, duplications.

2. Skeletal dysplasiasAchondrogenesis, short rib polydactyly syndromes, thanatophoric dysplasia,
osteogenesis imperfectatype II, etc.
3. Recognizable syndromes: Smith-Lemli-Opitz syndrome, Meckel Gruber syndrome, Walker Warburg
syndrome etc.
4. Alpha thalassemia and some metabolic errors.
5. Congenital malformations
Neural tube defects
Central nervous system abnormalities like holoprosencephaly, hydrocephalus
Renal abnormalitiesAgenesis, cystic and obstructive diseases of kidney.
Cardiac defectsTransposition of great vessels, Hypoplastic left heart
Laryngeal and tracheoesophageal abnormalities
Abdominal wall defects : Omphalocele and gastroschisis
Multiple malformations of unknown etiology
1. Placental
2. Infection
3. Cord problems
4. Obstetric problems
5. Early amnion rupture sequence
6. Maternal illness
7. Twins
List of Books Related to Medical Genetics

Practical Genetic Counseling 5th edition
Peter S. Harper
Butterworth Heinemann
Oxford : Butter Worth 1998, 1999
575.1 Acc No. 15104
Atlas of Skeletal Dysplasias
Wynne Davies
Churchill Livingstone, Edinburgh
1985
Clinical Genetics/Radiology
616.710757 Dav. Acc No. 781
Syndromes of the Head and Neck - 3rd edition
RJ Gorlin,
New York
Oxford University Press
199-977 p.
Clinical Genetics
4757, 617.5 GOK, N90
Birth Defects Encyclopedia
Mary Lovise Boyse, USA
Blackwell Sciences 1990
Clinical Genetics
5657 Acc No. 616.043
Multiple Congenital Anomalies: A Diagnostic Compendium

Robin M. Winter, London
Chapman and Hall, 1991
Clinical Genetics
4173 Acc No. 618 9243
A Color Atlas of Clinical Genetics
Michail Baraitser, Robin Winter
Wolfe Medical Publication, 1983
Clinical Genetics
575.1
Radiology of Syndromes, Metabolic Disorders and
Skeletal Dysplasias 3rd edition
Taybi H, Lachman RS
Chicago, Yearbook Medical Pub. 1990, 933 p.
Mosby
1996
Clinical Genetics/Radiology
616. 07572 Acc No. 12105
Emerys Elements of Medical Genetics 11th edition
Robert F Mueller, Ian D Young
Churchill Livingstone
Edinburgh, 2001
Clinical Genetics
575. 1 MVE Acc No. 16850
Appendices
The Genetics of Neurological Disorders
Michael Baraitser
Oxford Med. Publishers
1997
Clinical Genetics
616. 42 Bar
Smiths Recognizable Pattern of Human Deformations
Smith DW
Philadelphia
WB Saunders
1988-183p.
Clinical Genetics
616. 043 3222
ISBN 07216-2338-7
Ultrasound of Fetal Syndromes
Benacerraff
Churchill Livingstone
Fetal USG
1998
616.07543 Acc No. 14072
Ultrasonography in Obs. & Gyne
Peter W. Callen
W.B. Saunders
1993
USG Obstetrics
Prenatal Diagnosis of Congenital Anomalies
Roberto Romero
Appleton and Lange
1990
USG Fetal
618.22/PRE Acc No. 1637
Pediatric Neurology Principles and Practice - 3rd edition
Swaiman KF, Vol. I and II
CV Mosby
1990
Pediatrics/Neurology
618.92/2635 Acc No. 15378
Catalog of Teratogenic Agents
TS Shepard
John Hopkins University Press
1995
Pharmacology/Teratology
616. 043 SHE
361
List of Journals Related to Medical Genetics

1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
26.
27.
28.
29.
30.
31.
Acta Cytologica
Acta Oncologica
Acta Pediatrics
American Journal of Hematology
American Journal of Human Genetics
American Journal of Medical Genetics
Annals of Hematology
Blood
British Journal of Hematology
Cell
Clinical Dysmorphology
Clinical Genetics
Cytogenetics and Cell Genetics
Gene
Genetic Testing
Genomics
Human Gene Therapy
Human Genetics
Human Molecular Genetics
Journal of Medical Genetics
Lancet
Nature Genetics
Nuclear Acid Research
Prenatal Diagnosis
Science
Seminars in Perinatology
Trends in Genetics
Transfusion
Tissue Antigens
Bone marrow Transplantation
Proceeding of the National Academy of Sciences of the
United States of America
32. Trends in Biochemical Sciences
33. Genome Human
34. Reviews in Immunogenetics
Clinical Genetic Computer Resources
A. Online Mendelian inheritance in Man (OMIM)
http://www3.ncbi.nlm.nih.gov/Omim/-human genes and genetic
disorders authored and edited by Dr. Victor A. McKusick and
colleagues.
John Hopkins University. Entries include general description,
phenotype, clinical features, biochemistry, and genotype, mode
of inheritance, diagnosis, management, molecular genetics,
references, clinical synopsis, pictures, and date edited.
www3.ncbi.nlm.nih.gov/Omim/ http://www3.ncbi.nlm.nih.gov/
Omim/.
362
Available on CD-ROM, PC-GDB for MS Windown- Ray Duncan,

Cedars-Sinai Medical Center, Los Angeles, CA, distributed by
GDB.
3) Human cytogenetics databases http://www.oup.co.uk/>,

developed by Albert Schinzel, clinical and cytogenetic data
related to 1,200 chromosome aneuploidies, references.
1) London Dysmorphology Database

http://www.oup.co.uk/ep/prodsupp/medical/ldd> (LDDB) ver
2.2, >3,320 nonchromosomal, multiple congenital anomaly
syndromes with references.
4) Dysmorphology Photo Library

http://www.oup.co.uk/ep/prodsupp/medical/omd2_2/> ver 2.2
CD-ROM used with London Dysmorphology database or London
Neurogenetics database. 11,230 clinical photographs illustrate
syndromes in dysmorphology/neurogenetics databases.
2) London Neurogenetics Database

http://www.oup.co.uk/ep/prodsupp/medical/omd2_2/>, >2,950
syndromes involving central and peripheral nervous system,
references. Clinical neurological features, neuroradiology,
neurophysiology, and neuropathology including nerve and
muscle biopsy findings.
C. Possum : http://www.pssum.net.au/> (Pictures of standard

syndromes and undiagnosed malformations) version 5.1, Dr.
Agnes Bankier and John Marquet -$1000, The Murdoch Institute
for Research into Birth Defects, P.O. Box 1100 Parkville 3052
Melbourne, Victoria AUSTRALIA Voice : (613) 8341 6201 Fax:
(613) 348-1391 ACN: (006) 566-972 www.pssum.net.au/
http://www.pssum.net.au/>.
Appendices
APPENDIX-3
Fetal Autopsy Proforma
(ABORTIONS/STILLBIRTHS/NEONATAL DEATH WITH OR WITHOUT CONGENITAL MALFORMATIONS)
1. Name of Mother
______________________________________________________________________
2. Age of Mother
______________________________________________________________________
3. Name of Father
______________________________________________________________________
4. Age of Father
______________________________________________________________________
5. Present Address
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
Permanent Address
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
6. C.R. Number
______________________________________________________________________
7. Abortion/Delivery date & time
______________________________________________________________________
8. Date and Time of receipt of fetus :
______________________________________________________________________
9. LMP
______________________________________________________________________
10. Gestational age
______________________________________________________________________
11. Mode of Abortion /Delivery
______________________________________________________________________
12. Name and Address of

referring doctor
______________________________________________________________________
13. Referral Diagnosis
______________________________________________________________________
14. Reason for Referring
______________________________________________________________________
15. Pedigree Chart
______________________________________________________________________
16. OBSTETRIC HISTORY
______________________________________________________________________
Present 0/11
Single/Multiple Pregnancy
H/O Drug Intake
H/O Viral Fever
H/O Radiation
Loss of Fetal Movement (date)
Obstetric U/S Report
363
364
Past H/O
Socio-economic History
Medical History
Surgical History
INVESTIGATIONS
AMNION
Intact/Ruptured/Meconium Staining
Amniotic Fluid
Others
CHORION
1. Membrane
2. Villous
3. Weight
4. Meconium Staining
5. Others
UMBILICAL CORD
1. Length
2. Diameter
3. Normal/Abnormal
a) False Knot/True Knot/Thromeoset/Twisted/Constricted/Cystic Dilatat
b) Long/Short
c) Insertion Central/Paracentral/Marginal/Velamentous
d) Number of Vessels
e) Meconium Staining
f) Hemorrhage
PLACENTA
1. Shape
2. Infarcts
3. Meconium Staining
4. Hemorrhage
Placenta Previa/Accidental HGE (Retroplacental Clot) Subchorionic/Intervillous/Decidual)
5. Type Singleton/Twin/Placenta (Monochorionic Monoamniotic Diamniotic/Dichorionic Diamniotic)
6. Weight
7. Amniotic Bands
8. Intervillous Fibrin Deposition
Appendices
365
FETUS/EMBRYO
A. Fresh/Fixed
B. Autolysed None/Slight/Severe
General Appearance
C. Measurements
a) Length
1. CRL
2. CHL
3. Elbow Wrist Length
4. Hand Length
5. Knee Ankle Length
6. Foot Length
b) Circumference
1. H C
2. C C
3. A C
c) Cranial Distances
1. Inner canthal
2. Outer canthal
d) Nose Tip to Lip Distance
e) Bridge (Nose) Lip Distance
f) Right Ear Length
D. Weight
E. Developmental Age (Wks)
F. Sex
G. Description External Examination
a) General
Habitus - Normal /Thin/Fatty/Hydrops/Dwarf/Asymmetric/Skin-Normal/Ichthyosis/ Loose/Hyper-pigmented/Petechiae/Evidence
of Trauma/Constriction
b) Craniofacial
1. Skull Normal/Abnormal Microcephaly/Macrocephaly/Hydrocephaly/Anencephaly/Encephalocele/Cyclops/
Cebocephaly
2. Face Normal/Large/Small/Midface Hypoplasia
3. Hair Normal/Abnormal/Hypertrichosis/Low Hair Line/Eye Brows Normal/ Not developed
4. Eye Palpebral fissure/Normal/Mongoloid Slant/Antimongoloid
Distance Normal/Hypertelorism/Hypotelorism
Size Normal/Microphthalmos/Anophthalmos Epicanthal Fold
5. Ear Normal/Abnormal Small/Abnormal Shape/Position
6. Nose Bridge Normal/Depressed/Elevated
Length Normal/Short/Long
Nostril Normal/Single
7. Philtrum Prominent/Flat/Absent
8. Lips Normal/Prominent/Cleft
9. Mouth Normal/Large/Small
10. Palate Normal/Cleft/High Arched
11. Tongue Normal/Protruding/Small
12. Upper Jaw Normal/Hypoplastic
13. Lower Jaw Normal/Micrognathia/Retrognathia
14. Neck Normal/Short/Cystic Hygroma/Webbing
366
c) Thorax
1. Chest Normal/Shield/Narrow/Short/Pectus Excavatum/Pectus Carinatum
2. Nipples Normal/Abnormal/Supernumerary
3. Breast Normal/Abnormal/Enlarged
4. Ribs Normal/Abnormal/Missing
5. Vertebrae Normal/Abnormal Hemivertebra/Scoliosis/Kyphosis/Spina Bifida/Bifida Total/Cervical/Thoracic/
Lumbar/Sacral/Meningocele/Myelocele/Cranioschisis
d) Upper Limb
1. Normal/Short/Amputated/Joint Dysplasia/Abnormal Position/Lobster Claw
2. Hand Normal/Short/Long
3. Fingers Normal/Long/Short/Syndactyly/Polydactyly/Amputated/Broad Thumb/Clinodactyly/Brachydactyly
4. Palmer Crease Normal/Abnormal/Simian Crease/Sydney Crease
5. Nails Normal/Hypoplastic
e) Lower Limb
1. Length - Normal/Long/Short/Amputated
2. Position Normal/Talipes Varus Valgus/Genu Varum Valgum
Recurvatum/Jt. Dysplasia Dislocation.
3. Nails Normal/Hypoplastic
4. Toe Syndactyly/Polydactyly/Amputated/Broad Toe/2nd Toe Bigger Than 1st Toe/1st & 2nd Toe Deviated.
5. Foot Normal/Short/Long/Abnormal Crease/Rocker bottom Foot
f) Abdomen
Normal/Short/Narrow
Hepatomegaly/Splenomegaly
Ascites/Prune belly/Omphalocele
Umbilicus Normal/Low Set/High Set/Hernia
g) External Genitalia
Normal Female/Normal Male/Ambiguous/Ambi. Male/Ambi. Female
Penis Normal/Short/Long
Clitoris - Normal/Short/Long
Urethra Normal Hypospadius/Epispadius/Exstrophy
Testis Normal/Undescended Location/Agenesis
h) Anus
Normal Patent/Imperforate
H. Description Internal Examination
a) Thorax
1. Thymus Normal/Enlarged/Small/Absent/Petechiae/SI ; Weight (Size = in all internal organs : Aorta, Big versel,
Pulm. Tr., IVC, SVC)
2. Heart Location Normal/Abnormal
Enlarged Rt. Side/Enlarged Lt. Side
TGV/Coarctation/Stenotic
Petechiae
Pericardial Effusion
Rt. Atrium
Rt. Ventricle
Lt. Atrium
Lt. Ventricle Normal/Hypoplastic
Pulm. Valve cusps Normal/Bicuspid/Dysplastic
Aortic valve cusps Normal Bicuspid/Dysplastic/ASD/VSD/Memb./Muscular
Tricuspid Atresia/Mitral Atresia/Endocardial/Fibroclastosis/Gis/Weight
3. Lungs Normal/Abnormal
(Rt- Lt) Hypoplastic/Congestion/Petechiae/Effusion Trachea Normal/Abnormal/T E Fistula/Weight
Appendices
367
4. Diaphragm
Normal/Abnormal
Hernia/Eventration
5. Esophagus Normal/Abnormal
Stenosis/Atresia/T-E Fistula
b) Abdomen
1. Liver - Normal/Abnormal
Weight
Situs Inversus
Rupture/Necrosis/Cirrhosis
2. Gall Bladder Normal/Abnormal/Atresia
3. Gut Normal/Abnormal/Malrotated/Atresia/Stenosis/Meckels Diverticulum/Volvulous/Megacolon
4. Apendix Location/Normal/Abnormal
5. Spleen Location/Asplenia/Polysplenia/Normal Weight
6. Adrenal Size/Normal/Abnormal/Hypoplastic Weight (RT Lt)
7. Kidney (Rt-Lt) Size/Normal/Abnormal Horse Shoe Shape/Pelvic/Polycystic/Agenesis/Weight
Ureter Normal/Abnormal/Hydroureter/Duplication
Bladder Normal/Abnormal
8. Pancreas Normal/Abnormal/Weight
9. Stomach Location/Normal/Abnormal
10. Gonads (Rt Lt) Ovaries Normal/Abnormal/Streak/Agenesis/Cystic
Uterus Shape/Normal/Abnormal/Bicornuate/Septate
Tube (Rt Lt) Normal/Abnormal
Vagina - Normal/Abnormal
11. Nervous System
1. Brain - Normal/Abnormal/Large/Small
Hemorrhage Subdural/Subarachnoid/Intraventricular Hydranencephaly/Porencephaly/Hydrocephaly/
Holoprosencephaly
2. Weight
3. Spinal Cord Normal/Abnormal
4. Eyes Normal/Abnormal/Large/Small
Lens/Sclera/Iris
(Summary of internal findings)
I.
Sections for H/ P Examination/Naked Eye Exam.
1. Placenta
2. Cord
3. Thymus
4. Heart
5. Lungs
6. Liver
7. Kidney
8. Adrenal
9. Ureter
10. Spleen
11. Pancreas
12. Ileum
13. Colon
14. Gonads
15. Stomach
16. Uterus/Vagina
17. Skin
18. Others
J. Radiological Examination
a) X- rays
Whole Body
AP
Lat.
Skull
AP
Lat.
b) C.T. Head
Sagittal Whole Body
Serology
Toxoplasma/VDRL/Rubella/CMV/Herpes/Parvovirus B
368
K. Microbiology
Chlamydia/Listeria/Mycoplasma/Others
L. Cytogenetics
Karyotype/Tissue Culture/Placenta Culture
M. Photography
N. Others
Sl. No.
Weights
Ratios
I. Organs
a) Brain
b) Thymus
c) Heart
d) Lungs
e) Liver
f) Kidney
g) Adrenal
h) Spleen
i) Pancreas
II. Ratios
Normal Range
a) Lungs/Heart
2/1 to 4/1
b) Brain/Liver
2/1 to 4/1
c) Liver/Heart
4/1 to 7/1
d) Thymus/Spleen/Adrenal 1/1/1
FINAL DIAGNOSIS
SUMMARY
COUNSELING
Sulphate transporter
DTDST
CCA, FBN2
Beal syndrome
EVC
FOP, BMP2A
GBA1
GLB1
TBD, HEXA
GM2 II
MPSIH, IDUA
-L-iduronidase
FGFR3
TNS, ALP
COL2A1
Fibrodysplasia ossificans progressive
Gaucher disease
GM1 gangliosidosis
GM2 gangliosidosis I
GM2 gangliosidosis II
Homocystinuria
Hurler syndrome
Hurler-Scheie syndrome MPSIS, IDUA
Hypochondroplasia
Infantile hypophosphatasia
Kniest dysplasia
5q23 - q31
Type II collagen
12q13 - q14
1p34 - p36.1
21q22.3
4p16.3
MPS Type I S
4p16.3
Cystathionine synthetase
-L-iduronidase
4p16.3
FGFR3
Alkaline phosphatase, liver/bone/kidney
20p12
1q21
3p21.33
15q22-q25
15q13
Bone morphogenic protein 2A
4q12.21
At least 3 foci
5q32 - q33.1
Xp
6p21
17q24 - 17q25
Acid glucocerebrosidase 1
galactosidase
Hexosaminidase A, polypeptide
Hexosaminidase B, polypeptide
4p16
Short stature homeo box gene
DG11
EXT 1, 2, 3
DTDST
SHOX
Dentinogenesis imperfecta
Diaphyseal aclasis
Diastrophic dysplasia
Dyschondrosteosis
Ellis-van-Creveld
HMG-box 9 protein, SRY-related

Xq28
Xp22.32
Peroxisomal abnormality
OBFA1
Campomelic dysplasia
CMD1, SOX9
Chondrodysplasia punctata X-linked dom.
CDPX2
Chondrodysplasia punctata X-linked rec.
CDPX1
Chondrodysplasia punctata (rhizomelic type) CDPR, PEX7
Craniocleidodysostosis
CCD, CBFA1
5q32 - q33.1
12q13 - q14
5q32 - q33.1
4p16.3
Collagen II, -1 polypeptide

Fibroblast growth factor receptor 3
COL2A1
DTDST
ACH. FGFR3
Achondrogenesis and hypochondrogenesis

Achondrogenesis type IB
Achondroplasia
Acrodysostosis
Atelosteogenesis type II
Fibrillin-2
Chromosome location
Defective gene product
Symbol
Disease
Also spondylo-epiphyseal dysplasia congenita

contd...
Impaired mineralisation
Also achondroplasia
Ectopia lentis
MPS Type I H
Also Morquio
Tay Sachs
Sandhoff
Hereditary brown teeth

Genetic heterogeneity
Also achondrogenesis 1B, atelosteogenesis II
Ambiguous genitalia/sex reversal in 46XY patients

Happle, Conradi-Hnermann
Congenital arachnodactyly
Also diastrophic dysplasia

Also hypochondroplasia
Clinical similarities to pseudohypoparathyroidism
Also diastrophic dysplasia
Notes
Gene Locations of the Skeletal Dysplasias (alphabetical order)
Appendices
369
Symbol
LESD
MANB
MFS1, FBN1
GNS, G6S
GUSB
MPS II
ARSB
GNPTA
COMP, COL9A2
NPS1
NF1, VRNF
NF2, ACN
NPD, SMPD1
COL2A2, COL1A1
CALL, CALL
COL2A1
COMP
AHO, GNAS1
PDDR, VDD1
CTSK
ASC 3, SCS
See Hurler-Scheie
NEU
COL2A1
SEDT
COL2A1
TD, FGFR3
TRPS1
TRPS2, LGS
Disease
Letterer-Siwe disease
Mannosidosis
Marfan syndrome
McCune-Albright syndrome
MPS IIID
MPS VII
MPS II
MPS VI
Mucolipidosis II and III
Multiple epiphyseal dysplasia
Nail-patella syndrome
Neurofibromatosis I
Neurofibromatosis II
Niemann-Pick disease
Osteogenesis imperfecta
Osteopetrosis
Polyostotic fibrous dysplasia

Precocious osteoarthritis
Pseudoachondroplasia
Pseudohypoparathyroidism
Pseudo-vitamin D dependency rickets
Pyknodysostosis
Saethre-Chotzen syndrome
Scheie syndrome
Sialidosis
Spondylo-epiphyseal dysplasia congenita
Spondylo-epiphyseal dysplasia tarda
Stickler syndrome
Trichorhinophalangeal syndrome 1
Trichorhinophalangeal syndrome 2
contd...
Defective gene product
Collagen 1, -2 polypeptides
12q13 - q14
Xp22
8q24, 12
4p 16.3
6p21
12q13 - q14
neuraminidase
Collagen II,-1 polypeptide
FGFR 3
8q24.11 - q24.1
Deletion of EXT and TRP 1
7p21
12q13 - q14
19p13.1
20q
12q14
1q21
TWIST
Cathepsin K

Cartilage, oligomenic matrix protein
GS *a protein
8q22, 1p21
7p22.1, 17q21.31 - q22
Sphingomyelinase
Carbonic anhydrase II
9q34
17q11.2
22q12.2
11p15.4 - p15.1
Neurofibromin
12q14
7q21.11
Xq27 - q28
5q13
4q21 - q23
19p12 - p13.1, 1p32.2 - p33
19p13.2-q12
15q21.1
Chromosome location
N-acetylglucosamine-6-sulfatase
glucuronidase
iduronidase 2 sulfatase
Arylsulfatase B
N-acetylaglucosaminic-1 phosphotransferase
COMP, Type IX collagen
mannosidase
Fibrillin-1
13q14-q31
Notes
Langer-Giedion
Progressive myoclonus and visual loss

Also Kniest
X-linked type
Cartilage collagen
Mosaic phenotype
Collagen of skin, tendon and bone, mutations

cause
sub-types I-IV
Bilateral acoustic neuromata

Sphingomyelin lipidosis
Glomerulonephritis may occur
Hunters syndrome
Maroteaux-Lamy syndrome
I-cell disease (II). pseudo-Hurler (III)
Genetic heterogeneity
polyostotic fibrous dysplasia with precocious

puberty
Sanfilippo D syndrome
Disseminated histiocytosis X
370
Spondylo-Epiphyseal Dysplasias - Congenita - Classical type, others with distal

involvement e.g. brachydactyly
Tarda - autosomal dominant and recessive; X linked recessive
Predominantly Metaphyseal Dysplasias: Metaphyseal Chondrodysplasias (M.C.D)

Types: Schmid, McKusick, Jansen, Pena, with malabsorption and neutropenia, others.
(See also hypophosphatasia, rickets, included with metabolic bone disease (ix).
Spondylo-Metaphyseal Dysplasias - Types Kozlowski, Sutcliffe
Short Limbs/Normal Trunk - Achondroplasia, hypochondroplasia, dyschondrosteosis

Robinow, Werner, acromesomelia, acrodysostosis, others
Short Limbs and Trunk (may or may not be disproportionate) - Pseudoachondroplasia,

diastrophic dysplasia, metatropic dwarfism, kniest, Ellis-van Creveld, Jeune, others.
(See Also storage disorders (viii))
Lethal Forms of Short-Limbed Dwarfism - Thanatophoric, achondrogenesis,

short rib / polydactyly syndromes, campomelic dwarfism, others
(See Also hypophosphatasia (ix) and osteogenesis imperfecta (x))
Increased Limb Length - Marfan, congenital contractural arachnodactyly, homocystinuria
Storage Disorders - Mucopolysaccharide disorders, mucolipidoses,

mannosidosis, sialidoses
Metabolic Bone Disease - Hypo-and hyperphosphatasia, hypophosphataemic rickets,

pseudohypoparathyroidism, others
(See Also metaphyseal disorders, (iii))
Decreased Bone Density - Osteogenesis imperfecta group, idiopathic juvenile osteoporosis,

Hajdu Cheney (osteolysis), others
also membrane bone disorder - cleidocranial dysostosis
Cleidocranial
Increased Bone Density (Sclerosing Bone Dysplasias) - Osteopetrosis, pyknodysostosis,

Pyles craniometaphyseal dysplasia, fronto-metaphyseal dysplasia, osteodysplasty (Melnick-Needles),
Angelmanns, craniodiaphyseal dysplasia, osteopathia striata and osteopoikilosis
Tumour-Like Disorders (Bony Or Fibrous) - Diaphyseal aclasis, Olliers, Maffuccis,

dysplasia epiphysealis hemimelica, myositis ossificans progressive,
polyostotic fibrous dysplasia (including Albright), melorheostosis, neurofibromatosis
(ii)
(iii)
(iv)
(v)
(vi)
(vii)
(viii)
(ix)
(x)
(xi)
(xii)
Skeletal Dysplasia Group- Diagnostic Course April 1998

Increase Specialist scanning required to establish correct diagnosis
* G ** - genetic testing not available except for known familial mutations
Predominantly Epiphyseal Dysplasias Multiple epiphyseal dysplasia, hereditary arthroophthalmopathy. (Stickler), chondrodysplasia punctata (Conradi), severe rhizomelic, milder forms
(i)
Clinical Diagnostic Groups
Achondroplasia G
MCD Jansen
MCD with
neutropenia
SED cong. G**
Conradi B
Stickler G**
Clinical
By Genetic/
Biochemical Testing*
Period/Early
Infancy
Osteopetrosis (20+ weeks)

Pyknodysostosis (20+ weeks)
O.I. type II A, B, C (16+ weeks)

O.I. type III (24+ weeks)
Hypophosphatasia (16+ weeks)
Thanatophoric (16+ weeks)

Achondrogenesis (16+ weeks)
Campomelic (16+ weeks)
Short rib syndromes (16+ weeks)
Neurofibromatosis G**
Osteopetrosis (carbonic anhydrase

deficiency type only)
B, G**
O.I.G**
Hypophosphatasia B.G**
MPS. MLS B
Marfan G**
Homocystinuria B
Thanatophoric G
Achondrogenesis G**
Campomelic G**
Pseudoachon: (20+ weeks)

Pseudoachon: G**
Diastrophic: (16+ weeks)
Diastrophic G**
Kniest: (18+ weeks)
Kniest G**
Metatropic: (18+ weeks)
Ellis-van Creveld: (Jeune) (20+ weeks)
Achondroplasia (20+ weeks)

Acromesomelia
MCD with neutropenia G**

MCD Schmid G**
MCD Jansen G**
SED cong. (18+ weeks)
Conradi (rhizo:) have

stippled epiphyses (18+ weeks)
Pre-Natal Diagnosis
By Ultrasound
Examination+
(G; B.)
Age of Diagnosis and Method of Prenatal Diagnosis

Diagnosis
2 Years+
Mild ost. imp.

Juv. osteoporosis
Hajdu-Cheney
Cleidocranial
Hypophos rickets
Pseudohypo-para:
MPS
Marfan
Homocystinuria
Pseudoaction:
Hypochondroplasia
Dyschondrosteosis
Acrodysostosis
SED tarda
Myositis oss.
Poly. fib. dys.
Melorheostosis
Neurofibromatosis
All others
Severe osteopetrosis All others

Pyknodysostosis
Severe cranio-meta:
Cranio dia:
Severe Melnick Needles
Ost. imp.
Hypophosphatasia
MLS
Marfan (neonatal)
Cong. contractural
arachnodactyly
All
E. van C., Jeune

Diastrophic
Metatropic
Kniest
Achondroplasia
All other MCD

and SMP
SED cong.
Conradi (rhizomelic), Conradi (mild)

Stickler
Stickler (mild)
Clinical
Diagnosis In
Neonatal
Appendices
371
372
Appendices
373
374
APPENDIX-4
Pedigree Symbols
Appendices
Degrees of relationship
Proportion of genes shared
First degree
Sibs
Dizygotic twins
Parents
Children
Second degree
Half sibs
Uncles, aunts
Nephews, nieces
Third degree
First cousins
Half uncles, aunts
Half nephews, nieces
1/2
1/4
1/8
375
376
Patterns of Relationships
(Contd...)
Appendices
(Contd...)
Reference: Practical Genetic Counseling by Peter Harper
377
378
APPENDIX-5
Neonatal Case Record
Chigateri District Hospital, Davangere - 577 004.
Neonatal Case Sheet, Department of Paediatrics
Name B/o
Age
Sex
Address
:
:
:
:
Sl. No
Hospital No
D.O.Birth
D.O. Admission
Father
Street
Town/Village
District
State
:
:
:
:
MATERNAL HISTORY:
I.
Medical History:
Age
Gravida
Parity
Living children
Blood group & Rh.
Consanguinity
- Uncle Niece
- First cousin
- BFC
Pedigree
II. Hypertension
Diabetes
Heart disease
Tuberculosis
Asthma
Epilepsy
Thyroid disease
UTI
Others Smoking
Alcoholic
Narcotics
III. Obstetrics performance:

Pregnancy
Outcome
Date of
delivery
Gestational
age
Sex
B.Wt. N
Abortion/Stillbirth
Neonatal death
I
II
III
IV
V
Present pregnancy
1. LMP
2. EDD
3. ANC
4. USG abdomen
5. X-ray chest
6. NST / OCT
7. Hb%
8. P. smear
9. VDRL
10. HBsAg
a)
b)
c)
d)
e)
f)
g)
h)
i)
j)
Hypertension/PHE/Eclampsia
Anaemia
Diabetes - stage
Jaundice - type
Oligo/polyhydramnios
Vaginal bleeding
Heart disease
PROM
Seizure
Placental insufficiency
Appendices
11.
12.
13.
14.
HIV
TORCH
Urine
Others
Labour events:
1) Spontaneous / Induced
2) Drugs- Oxytocin
Pethidine
Tocolytic agents
3) Duration:
1st stage......hrs
2nd stage........hrs
4) PROM
5) MSAF
Delivery events:
I) Type - Normal vaginal
Instrumental
Caesarean section
II) Presentation
-Vertex
-Breech
-Others
Indication:
Drugs Gen anesthesia
Spinal / Epidural
Others
III) Place
-Hospital
-Home
-PHC
-Other Hospital
Postnatal events:
* Resuscitation methods used
* Drugs used for NALS
* APGAR
1
5
10
Physical examination:
I) -Single/Twin : 1st twin/2nd twin
-Gestational age.......wks (Table-1)
-Sex
-Cry
-Colour
-Activity
-B weight.......kgs (Table-2)
-Length.........cms
-H.C.............cms
-M.A.C........cms
GENERAL PHYSICAL EXAMINATION:

Skin
Craniofacial
CNS
Neonatal Reflexes -Moros reflex
Rooting reflex
Sucking reflex
Grasp reflex
II) -Vital signs
-Plantar
-HR
RR
BP
379
380
Palmar
Neck
Chest
CVS
Lungs
Abdomen
Genitalia
Extremity
External cong. anomalies
IMPRESSION
Course in hospital
Treatment given
Discharge plan
Follow-up
Dysmorphic child
Appendices
(Abortion / Stillbirth / Neonatal death with or without congenital malformation)
Name of Mother ....................................................... Age ...............................................................................................
Name of Father ......................................................... Age ...............................................................................................
Date and time of receiving the neonate / foetus ...........................................................................................................
Pedigree:
Obstetrics:
- Single / Multiple pregnancy
- History of drug intake/Viral Fever/Radiation/Lymphadenopathy/Rashes
- Obstetric USG report
- Medical history
PHYSICAL EXAMINATION:
1) General appearance:
Habits : N/Thin/Fatty/Dwarf/Hydrops/Asymmetrical
Skin : N/lchthyosis/Loose/Hyperpigmented/Petechiae
Evidence of trauma/Constriction
Measurements :
1. Length- Crown rump length

Crown heel length
Elbow wrist L
Hand L
Knee ankle L
Foot L
2. Circumference
- HC....cms
CC.....cms
AC.....cms
3. Distances
- Inner canthal distance
Outer canthal distance
4. Nose tip to lip distances
2) Craniofacial:
Skull
Face
Hair
Eyebrows
Eyes
:
:
:
:
Ear
Nose
Philtrum
Lips
Mouth
Palate
Tongue
Upper jaw
:
:
:
:
:
:
:
:
N/Abnormal / Microcephaly / Macrocephaly / Anencephaly

Encephalocele / Cyclops / Cebocephaly
L / Large / Small / Midface hypoplasia
N / Hypertrichosis / Low hair line
N / Not Delivered
Palpebral fissure - N / Mongoloid / antimongoloid slant
Distance - N / Hypertelorism / Hypotelorism
Size - N / Microphthalmos / Anophthalmos / Epicanthal fold
N / Abnormal - shape, size, position
Bridge - N / Depressed / Elevated
Prominent / Absent
N / Prominent / Absent
N / Large / Small
N / Cleft / High arched
N / Small / Protruded
N / Hypoplastic
381
382
Lower jaw
Neck
3) Thorax:
Chest
Nipple
Breast
Ribs
Vertebrae
:
:
N / Micrognathia / Retrognathia
N / Short / Webbing / Cystic hygroma
:
:
:
:
:
4) Upper limb
Hand
Fingers
:
:
:
Palmar crease
Nails
5) Lower limb:
Length
Position
:
:
N / Narrow / Short / P. excavatum / P. carinatum

N / Supernumerary
N / Enlarged
N / Missing
N / Hemivertebrae / Scoliosis / Kyphosis / Spina bifida
bifida total / Meningocele / Myelocele
N / Short / Amputated / Abnormal position / Long joint dysplasia
N / Short / Long
N / Short / Long / Syndactyly / Polydactyly / Clinodactyly
Brachydactyly / Amputated / Broad thumb
N / Abnormal / Simean / Sydney C
N / Hypoplastic
:
:
Nails
Foots
Toe
:
:
:
6) Abdomen
7) Umbilicus
N / Short / Amputated / Long

N / Talipes - valgus / Varus / Genu varum - Valgum
Recurvant / Jt. Dysplasias / Dislocation
N / Hypoplastic
N / Short / Long / Rocker bottom / Abnormal / Crease
Syndactyly / Polydactyly / Amputated / Broad
2nd toe bigger than 1st toe / deviation of 1st and 2nd toe
N / Short / Narrow / Distended
Organomegaly / Ascitis / Prune belly
Omphalocele / N / Low set / High set
Cord - Length
diameter
Knots
Insertion
No. of vessels
8) External genitalia:
N: Female / N male Ambiguous - Male / Female
Penis
: N / Short / Long
Clitoris
: N / Short / Long
Urethra
: N / Hypospadias / epispadias
Testes
: N / Undescended / Agenesis
9) Anus
: N / Patent / Imperforate
Systemic Examination:
CNS
CVS
RS
PA
Radiological investigations
Microbiological tests
Cytogenetics
Serology
Photography
Signature of Doctor.
Appendices
383
Weight in pounds
Weight in Kgs
384
INDEX
A
Abnormal abdominal masses 38
Abnormal baby 13
Abnormal heart size 177
Abortion 1
Air bronchogram 172
Ambiguous genitalia 244
Anatomy of the breast 90
Anomalies of extremities
polydactyly 255
syndactyly 256
Anomalies of the face region 221
body stalk anomaly 235
cleft lip and palate 222
congenital hypertrophic pyloric stenosis 239
cystic hygroma 229
diaphragmatic hernia 230
duodenal atresia 238
Eagle Barrett syndrome 235
ectopia cordis 234
ectopia vesicae 236
epignathus 224
esophageal atresia 237
external ear malformations 228
eye anomalies
anophthalmos 225
cryptophthalmos 225
microphthalmos 225
gastroschisis 234
Hirschsprungs disease 242
ileojejunal atresias 240
imperforate anus 242
median cleft lip 222
neonatal cataracts 226
neonatal corenal opacities 227
omphalocele 233
Pierre Robin sequence 221
Prune belly syndrome 235
umbilical hernia 233
Antenatal fetal distress 9
Anthropometry 32, 67
birth weight 67
head circumferences 70
length 69
mid-arm circumference 71
special morphometry 71
ears 73
eyes 71
foot length 78
head 71
internipple distance 77
large ears (macrotia) 75
long ears 75
middle finger length 77

mouth width 76
palm length and palm breadth 76
penile length 77
philtrum 76
small ears 74
total hand length 77
Antiretroviral therapy (ART)
counseling 143
group 143
post-test 143
postexposure prophylaxis 144
universal work precautions 144
Apgar score 6
Apgars evaluation of newborn 7
Artificial feeding 97
Assignment of sex 246
B
Battered baby syndrome 123
Beckwith-Wiedemann syndrome 275
Biliary atresia 112
Birth injuries 114
caput succedaneum 115
cephal hematoma 115
scalp injuries 115
skin and superficial injuries 114
subcutaneous fat necrosis 114
subgaleal hemorrhage 117
vacuum extraction injuries 117
Birth weight groups 1
Bleeding neonate
approach to a bleeding neonate 160
clinical presentation 160
etiology 160
vit K deficiency bleeding 162
Bone fractures 118
brachial plexus injuries 120
breech deformation 123
Erbs palsy 121
facial nerve palsy 121
fracture of clavicle 120
internal organ injury 122
Klumpkes palsy 121
long bone fracture 120
scrotal injury 122
Breastfeeding
benefits 89
benefit to the nation 89
benefits to family 89
benefits to the baby 89
benefits to the mother 89
guidelines for successful breastfeeding 92
types 90
Breastfeeding and HIV 145
C
CANS
signs 84
abdomen 88
arms 84
back 85
buttocks 85
cheeks 84
chest 85
hair 84
legs 85
neck and chin 84
Caudal regression syndrome 164
Causes of perinatal death 2
Cephal hematoma 167
Chlorhexidine 32
Choledochal cyst 113
Chromosomal abnormality 268
cat cry syndrome/cri du chat syndrome
275
deletion 9P
syndrome 276
duplication 10 q syndrome 276
trisomy 13 (Patau syndrome) 270
trisomy 18 (Edwards syndrome) 272
trisomy 21 (Downs syndrome) 268
Turners syndrome 273
WAGR syndrome 274
Chronic cholestasis 111
Classification of newborns 80
based on birth weight for gestational age 81
based on gestational age 80
based on weight 80
classification based on weight for
gestational age 82
CNS malformations 204
abnormal shapes of head 220
anencephaly 209
Arnold-Chiari malformations 220
congenital scalp defect 217
Dandy Walker malformation 216
encephaloceles 211
external cerebral formation 204
holoprosencephaly 206
hydrocephalus 215
iniencephaly 209
internal cerebral formation 204
meningoceles 213
meningomyeloceles 213
microcephaly 218
neural tube defects 205
otocephaly 220
overview of brain development 204
porencephalic cysts 221
spina bifida occulta 212
X-linked hydrocephalus spectrum 216
386
Cold chain 25
Common minor malformations 201
Common neonatal infections 128
bullous impetigo 132
common bacteria in neonatal infection
group B Streptococcus 128
Haemophilus influenzae 128
Listeria monocytogenes 128
Staphylococcus epidermidis 128
Streptococcus pneumoniae 128
iatrogenic thrombophlebitis 134
meningitis 129
omphalitis 130
ophthalmia neonatorum 129
oral thrush 132
scabies 132
septic arthritis 133
staphylococcal scalded skin syndrome 131
tetanus 130
Complications of perinatal asphyxia 148
Congenital absence of ribs 264
Congenital CML 168
Congenital diaphragmatic hernia 13
Congenital heart diseases 176
abnormal heart shapes 177
congenital heart disease and chromosomal
abnormalities 179
congenital heart disease and systemic
malformation 179
cyanosis 176
globular heart 178
globular-Ebsteins anomaly 178
myocardial disorders 179
syndromes associated with congenital heart
disease 179
TOF 178
transposition of great vessels 178
Congenital hypothyroidism 264
Congenital malformations 200
causes 202
incidence 200
terminology 200
Congenital pneumonia 175
Congenital talipes equinovarus 256
Congenital vaginal occlusion 246
Craniosynostosis
acrocephalosyndactyly 322
Apert syndrome 322
Carpenter syndrome 323
clover leaf skull deformity 323
D
Diabetic embryopathy 164
Diabetic fetopathy 163
Dysmorphic child 266
E
Epidermolysis bullosa 264
Examination of placenta
importance 191
significance 198
Exchange transfusion 107
Extended neonatal mortality rate 2

Extended perinatal mortality rate 2
F
Facial limb defects
Langer Giedion syndrome 298
otopalatodigital syndrome II 298
Stickler syndrome 299
Features of placenta 192
abnormal placentation 193
abnormalities of placental membranes
amnion nodosum 195
chorioamnionitis 195
meconium stain 195
placenta in amniotic band syndrome
195
abnormalities of placental weight 192
circumvallate palcenata 194
cord abnormalities 196
hematoma of the umbilical cord 197
placentas of multiple gestation 198
single umbilical artery 196
true knots of the umbilical cord 197
umbilical cord length abnormalities 196
velamentous insertion 197
fenestrated placenta 194
Feeding problems 92
breast abscess 96
engorgement of breast 95
inverted/flat nipple 92
sore nipple 95
Female pseudohermaphroditism 245
Fetal death
early 1
intermediate 1
late 1
Fetal injury 83
Fetal overgrowth
Beckwith-Wiedemann syndrome 282
FM 84
plantar surface 61
skin 59
Gestational age group
adequate-for-gestational age 2
large-for-gestational age 2
small-for-gestational age 2
Gestational groups 1
Growth restriction
Brachmann-de Lange syndrome 277
Hallermann Streiff syndrome 278
Johnson Blizzard syndrome 278
Robinows syndrome 280
Russell-Silver syndromes 277
Seckels syndrome 282
Smith-Lemli-Optiz (SLO) syndrome 279
H
Hamartomus nevi 263
Hammer toe 258
albinism 260
arthrogryposis multiplexa congenita 258
Collodion baby 262
developmental dysplasia of hip 258
Harlequin syndrome 261
Milroy disease 262
Handles for syndrome identification 267
Heat loss 9
Hemangioma 168
Hemorrhagic disease of the newborn 162
HIV status code 146
HIV-positive pregnant women 142
Hyaline membrane disease 172
Hydrocele 244
Hydronephrosis 252
Hydrops fetalis 109
Hyperbilirubinemia 105
Hypospadiasis 246
Hypothyroidism 263
Hypoxic ischemic encephalopathy
clinical features 148
Hypsarrhythmia 159
G
Gavage-feeding 99, 100
Gene locations of the skeletal dysplasias
369
Genetic syndromes 266
Gestational age 1
Gestational age assessment 59
neurological parameters 64
arm recoil 65
heel to ear 66
popliteal angle 65
posture 64
scarf sign 66
square window 64
physical parameters 59
breast 62
ear 62
eye 62
genitals-female 63
genitals-male 63
lanugo 60
I
Infant mortality rate 3
Infantometer 69
Information about medical genetics in India
359
Intramammary reflexes 92
Intrauterine infections
clinical manifestations 135
cytomegalovirus 137
herpes 137
rubella 137
syphilis 137
toxoplasmosis 137
IUGR 84
IUGR babies 82
J
Jaundiced neonate 104
Index
K
Kernicterus 105
L
Labor room procedures
steps 4
Life-threatening congenital anomalies 31
Limb abnormalities 302
EEC syndrome 306
femoral hypoplasia 304
Grebe syndrome 302
Larsen syndrome 307
lethal multiple pterygium syndrome 310
popliteal pterygium syndrome 304
radial dysplasia 305
unusual facies syndrome 304
Live birth 1
Lobar holoprosencephaly 158
Low birth weight babies 82
M
Macrosomia 165
Male pseudohermaphroditism 245
Malformation syndromes 266
Maternal hormones 48
Meconium aspiration syndrome 173
Meconium stained amniotic fluid 13
Meconium stained newborn 13
Microcephaly 138
Minolta transcutaneous bilirubinometer 103
Miscellaneous abdominal tumor 255
Miscellaneous anomalies of external genitalia
247
Miscellaneous syndromes 335
infantile polycystic kidney 336
Jarcho Levin syndrome 335
leprechaunism (Donohues syndrome) 336
lipodystrophy 336
Milroys disease 336
N
NALS 8
medications used 13
Neonatal anemia
causes 166
clinical evaluation 170
Neonatal case record 378
Neonatal cold injury 151
Neonatal convulsions
mimics of convulsions 155
subtle convulsions 155
Neonatal hepatitis syndrome 111, 112
Neonatal immunization
BCG vaccine 22
adenitis 24
complications 24
hepatitis B vaccine 24
immunization of babies born to HIVpositive mothers 25
oral polio vaccine 24
preterm immunization 25
Neonatal jaundice 102

classification
conjugated 111
pathologic 103
physiologic 103
evaluation 104
method of detecting jaundice in newborns
102
Neonatal mortality rate 2
Neonatal period 1, 2
Neonatal presentation of congenital heart
disease 176
Neonatal reflexes 54
Gallants reflex 57
Moros reflex 54
palmar grasp 55
placing reflex 56
plantar grasp 56
rooting reflex 55
stepping 57
suckling reflexes 55
swallowing reflex 55
tonic neck reflex 57
Neonatal sepsis
clinical features 125
common etiologic agents
Escherichia coli 125
group B streptococci 125
Klebsiella pneumoniae 125
Staphylococcus aureus 125
laboratory studies 125
Neuroblastoma 254
Neurofibromatosis 158
Newborn maturity rating and classification
383
Newborn Screening Programme 20
Nonshivering thermogenesis 149
Normal variants 43
apparent phimosis in newborn 47
cutis marmorata 46
epstein pearls (palatal cyst) 45
erythema toxicum 44
frontal baldness 51
gynecomastia 48
Harlequin color change 45
hemangiomas of skin 50
hydrocele 49
hymenal tags 49
milia 44
mongolian spots 43
neonatal teeth 46
normal variants in newborn 43
peeling of skin 48
prominent xiphisternum 50
subconjunctival hemorrhage 48
sucking blisters 45
supernumerary nipples 50
transient pustular melanosis 47
O
Oxygen 11
Oxytocin 91
387
P
Paladay and cup spoon-feeding 98
Pallor 166
Pedigree symbols 374
PEP recommendation 147
Perinatal HIV infection
diagnosis of HIV infection in neonatal
period 140
in utero transmission 140
intrapartum transmission 140
postpartum transmission through
breastfeeding 140
timing and mechanism of transmission 140
Perinatal mortality rate 2
Perinatal period 1, 2
Phototherapy 106
Physical examination of the newborn 31
general examination 32
head to foot examination 32
ophthalmoscopic examination 36
washing hands 32
Physical recognition of syndrome 267
Physiology of lactation 90
Porencephaly 158
Prevention of hypothermia in newborn 152
Primary brain defect 284
COFS (cerebrooculofacio-skeletal
syndrome) 285
Freeman Sheldon syndrome 289
Meckel-Gruber syndrome 286
Menkes syndrome 284
Neu-Laxova syndrome 286
Pena-Shokeir syndrome 285
Schwartz-Jumpel syndrome 288
Walker Warburg syndrome 284
XLR-aqueductal stenosis 285
Zellweger (cerebro-hepato-renal) syndrome
288
Primary facial anomalies 290
anophthalmia 298
blepharophimosis 291
cataract 298
cleft lip sequence 291
Fraser syndrome 290
frontonasal dysplasia 295
Goldenhar syndrome 292
median cleft face syndrome 298
microphthalmia 298
orofaciodigital syndrome 293
Robin sequence 298
Treacher Collins syndrome 291
Van der Woude syndrome 292
Waardenburgs syndrome 296
Primary soft tissue/connective tissue anomalies
324
beals contractural arachnodactyly 329
Ehlers-Danlos syndrome 327
Harlequin syndrome 330
Klippel-Trenaunay-Weber syndrome 324
Marfans syndrome 326
osteogenesis imperfecta type II perinatal
lethal 324
osteogenesis imperfecta type III 326
restrictive dermopathy 329
388
Problems of infants of diabetic mothers 163

Problems of temperature regulation
modes of loosing heat 149
conductive loss 149
convective loss 149
evaporative loss 149
radiation loss 149
Pulse oximeter 177
Putative teratogens 164
R
Rectovesical fistula 246
Relactation 96
Renal cystic diseases 250
Respiratory distress 171
assessment of respiratory distress 172
causes
anatomic problems compromising
respiratory system 171
pulmonary disorders 171
systemic disorders 171
clinical evaluation 173
predisposing and protective factors 173
Respiratory distress syndrome 172
Resuscitation 8
Rh-incompatibility 109
Rocker bottom foot 258
Routine care of the newborn
bathing 16
cold care 17
eye care 17
prevention of hypothermia 16
recording daily weight 17
screening for congenital disorders 19
watching for danger signs 17
S
Scrotal hematoma 168
Selected neonatal syndromes 351
miscellaneous syndromes 355
syndromes of skeletal dysplasias 354
syndromes with disordered growth 351
syndromes with facial limb malformation
354
syndromes with limb anomalies 353
syndromes with major facial defects 352
syndromes with primary brain/
neuromuscular abnormality 352
Septic arthritis 134
Septicemia baby 126
Sequence and associations
amniotic rupture sequence 337
arthrogryposis 347
caudal dysplasia sequence 345
CHARGE association 347

exstrophy of the bladder or ectopia vesicae
345
holoprosencephaly sequence 347
hypothyroid sequence 347
Klippel-Feil sequence 346
limb body wall sequence 340
oligohydramnios sequence 343
renal agenesis 347
sirenomelia 341
spinal dysraphism sequence 347
twin: conjoined and acardia 374
urethral obstruction sequence 344
VATER association 346
SGA 84
Skeletal dysplasias
achondrogenesis types 1 and 2 311
achondroplasia 316
autosomal recessive chondrodysplasia
punctata 319
campomelic dysplasia 314
cleidocranial dysostosis 320
diastrophic dysplasia 321
Ellis-van Creveld syndrome 318
fibrochondrogenesis 321
hypophosphatasia 320
intracranial hemorrhage 118
Jeune asphyxiating thoracic dystrophy 315
mesomelic dysplasia severe dominant form
321
metatropic dysplasia 317
other injuries in head 118
short rib polydactyly types I and II 312
Skull fractures 117
sternomastoid tumor 118
thanatophoric dysplasia 314
Smith-Lemli-Opitz syndrome 158
Stool cycle in newborn
meconium stool 52
milk stool 53
stool in artificially-fed babies 53
transitional stool 52
T
Tachyarrhythmias 14
Tactile stimulation 11
Teratogens 202, 334
CMV 335
congenital rubella syndrome 334
congenital varicella syndrome 335
syphilis 335
toxoplasmosis 335
Teratomas
sacrococcygeal teratoma 247
Term infants 128
Thermoneutral temperature 149

Traditional practices
beneficial 27
harmful 27
indifferent 29
Transient tachypnea of the newborn 174
Tumors and hamartomas 330
cystic hygroma 334
hemangiomas 333
hypomelanosis of ito 331
incontinentia pigmenti 330
neuroblastoma 334
neurocutaneous melanosis sequence
331
neurofibromatosis 332
Proteus syndrome 334
Sturge-Weber syndrome 330
teratoma 334
tuberous sclerosis 332
Twins
causes of twin perinatal loss 182
classification 188
acardia 189
fetus papyraceous 189
vanishing twin syndrome 189
conjoined twins 187
feeding of twins 183
incidence of twins 182
problems associated with twins 182
Siamese twins 182
twin reversed arterial perfusion sequence
184
twin-to-twin transfusion syndrome 184
zygosity of twinning 183
Types of breast milk
colostrum 100
fore milk 101
hind milk 101
mature milk 101
preterm milk 101
transitional milk 101
Types of seizures 155
causes of seizures 157
classification of seizures 156
V
Vaccine carriers 26
W
Wilms tumor 252
Z
Zellweger syndrome 158

Atlas Neonatology

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Atlas Neonatology

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An Atlas of

Professor and Head

Typeset at JPBMP typesetting unit

23. Problems of Temperature Regulation ............................................................................... 150

Index .................................................................................................................................................... 385

Understanding of proper, and uniform nomenclature

the 7th day after birthWHO. Other additional

Birth Weight/Gestational Age Group

Table 1.2: Categories of causes of perinatal death

Prematurity Birth injuries

Large-for-gestational age (LGA)Babies with a

Infections including tetanus

Adequate-for-gestational age (AGA)Babies with

Source: Ministry of Health and Family Welfare, Govt. of India,

Extended Perinatal Mortality Rate

Neonatal Mortality Rate (NMR)

Extended Neonatal Mortality Rate

birth per 1000 live born infants weighing 500 g or

Infant Mortality Rate (IMR)

Fig. 1.1: Graphical representation of neonatal terminologies

Labor Room Procedures

Transition from fetal physiology to a neonatal one is

Fig. 2.1a: Head delivery in vertex presentation

Labor Room Procedures 5

Fig. 2.2: Suctioning of the mouth after delivery

2. Suctioning: To minimize the risk of aspiration of

Fig. 2.4: Drying the baby under 200 watt bulb

4. Initial steps of resuscitation: Immediately after

Fig. 2.8: Weighing the baby

10. Rooming in: As soon as mothers condition

Fig. 2.6: Tying the identity

Fig. 2.9: Administration of vitamin K. Note injection being

Fig. 2.7: Wiping of the eye

This scoring system was introduced by the anesthetist

Labor Room Procedures 7

Fig. 2.10: Bedding in

score indicates possible prognosis. However, the

1. Apgar scores have no utility in deciding steps of

Table 2.1: Apgars evaluation of newborn

Body pink, blue extremities

Immediately after birth the transition from fetal to

listed inside the inverted pyramid to emphasize that the

BEING PREPARED FOR RESUSCITATION

Fig. 3.1: Steps in neonatal advanced life-support inverted pyramid concept

5. IUGR (intrauterine growth retardation).

Abnormal variations in fetal heart rate or rhythm.

Equipment (Table 3.2)

PREVENTION OF HEAT LOSS (Fig. 3.3)

POSITIONING (Fig. 3.4)

Intubation, lung expansion

Fig. 3.2b: Laryngoscope with straight blades

Modified and adapted from the American Heart Association/

Fig. 3.2c: Endotracheal tubes

SUCTIONING THE AIRWAY (Figs 3.5a and b)

Fig. 3.2a: Bag and mask equipment

under the shoulders in sniffing position Avoid hyperextension and hyperflexion.

Clear the airway off any secretion by suctioning mouth

Fig. 3.5a: Suctioning the mouth first

Fig. 3.3: Drying the baby

Fig. 3.4: Positioning the baby with neck in slight extension

TACTILE STIMULATION (Fig. 3.6)

Fig. 3.5b: Suctioning the nose next

positioning, suctioning, and giving tactile stimulation

BAG AND MASK VENTILATION (Fig. 3.7)