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Chapter 32. Congenital Malformations And Their Causes: Human Malformations - Review of Medical Embryology Book - LifeMap Discovery

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EMBRYONIC DEVELOPMENT & STEM CELL COMPENDIUM

32. Congenital Malformations And Their Causes: Human Malformations

Review of MEDICAL EMBRYOLOGY Book by BEN PANSKY, Ph.D, M.D.
31. Congenital Malformations And Their Causes

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I. Human malformations occur in 2-3% of births. Some examples of these are

A. SINGLE MONSTERS
1. Phocomelia: limb anomaly spontaneously create Seen in
1/100,000 births
a. A typical lesion of thalidomide: 10% of the women who
took the drug during the critical period had babies with
this anomaly
2. Coelosomy: a defect of closure of the abdominal wall whereby
the normally developed abdominal viscera are found in an
extra-abdominal position
3. Craniorrhachischisis: complete failure of the neural tube to
close
a. There are angiomatous degeneration of nervous tissue,
absence of the cranial vault, and absence of the
posterior arches of the vertebra
B. DOUBLE MONSTERS OR DOUBLE-TYPE MALFORMATIONS can be
considered as nonseparated twins with the degree and type of fusion
being variable
1. Janus-type (janiceps) cephalothoracopagus (pagus, meaning
something fastened)
2. Asymmetric thoracopagus
3. Acardia is one of a pair of monozygotic twins which has
degenerated after a failure of vascularization. Structures
already present regress, ending in the formation of what looks
like an amorphous mass with no organization
C. EXPERIMENTAL MALFORMATIONS: the mammalian embryo, despite its
apparent protection, is very sensitive to the influence of various
external teratogenic agents. Most of the malformations, seen in
humans clinically, have been reproduced experimentally
1. Classification of teratogenic factors: usually described in 5 major
groups
2. Physical factors: x-rays, radiation, et
3. Chemical factors: hypoglycemia, antitumor drugs,
neurepileptics, et
4. Nutritional factors: hyper- or hypovitaminosis, mineral excess, or
deficiencies, vitamin imbalance, et
5. Hormonal factors: use of androgens, synthetic progesterones,
cortisone, et
6. Infectious factors: toxoplasmosis, rickettsioses, Asian flue, and
viruses
7. Viruses: especially rubella or German measles, cytomegalovirus,
herpes simplex virus, measles, mumps, hepatits, poliomyelitis,
chickenpox, syphilis, ECHO virus, and Coxsackie virus. A number
have been implicated but not all cause malformations
Mode of action of teratogenic factors: the effect depends
predominantly on the stage of intervention of the agent
(chronologic factor) and the genetic constitution
(constitutional factor). Several types of sensitivity are listed
Time or stage of sensitivity

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1/19/2015

Chapter 32. Congenital Malformations And Their Causes: Human Malformations - Review of Medical Embryology Book - LifeMap Discovery
Before implantation: external agents, according to their
intensity, provoke either completely rreversible lesions or
definitive mortal lesions
After implantation and during the entire period of active
morphogenesis: this is the principle teratogenic period because
a primordium is most sensitive to teratogenic actions at the
time of its appearance
a) The same substance can produce different malformations if
given at different stages of morphogenesis
b) When more than 1 primordium develop simultaneously, the
same agent can result in multiple malformations
Species sensitivity: an agent teratogenic for 1 species may not
be so for another
Strain sensitivity: even in the same species, the percentage of
malformations seen with any substance can vary according to
strain and even the line
Individual sensitivity: even in the same animal litter subjected
to a teratogenic influence, certain individuals react differently
and may be free of any malformations. Even those malformed
are not so to the same degree necessarily. Different metabolic
peculiarities may explain these individual variations and also
those seen between strains

31. Congenital Malformations And Their Causes

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