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Chapter 71. Malformations of The Appendicular Skeleton (the Limbs) - Review of Medical Embryology Book - LifeMap Discovery

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EMBRYONIC DEVELOPMENT & STEM CELL COMPENDIUM

71. Malformations of The Appendicular Skeleton (the Limbs)

Review of MEDICAL EMBRYOLOGY Book by BEN PANSKY, Ph.D, M.D.
70. Dermatome And Cutaneous Innervation Of The Limbs

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72. Development Of The Integumentary System: Ectoderma

I. Introduction: abnormalities of the extremities vary greatly, and minor defects

in development are relatively common. Major limb malformations are rare.
Most are of a hereditary nature, such as chromosomal abnormalities.
Environmental factors, such as drugs, have often caused an "epidemic" of
limb deformities, e.g., thalidomide, which had been used as a sedative and
antinauseant. Often, combinations of both environmental and hereditary
factors have been involved. In addition, mechanical factors such as reduced
amniotic fluid have been associated with limb deformities. In the extreme
form, one or both extremities are absent (amelia) or are represented only by
hands and feet which are attached to the trunk by small irregular bones
(meromelia). Sometimes all segments of the extremities are present but are
very short (micromelia)
II. Types of deficiencies
A. CLEFT HAND OR FOOT (lobster-claw deformities) are rare; 1 or more
central digital rays or digits are absent, resulting in a hand or foot
divided into 2 parts and opposing each other like a lobster claw. The
remaining digits are usually fused (syndactyly)
B. CLUB HAND OR CONGENITAL ABSENCE OF RADIUS: the radius is
partly or totally absent. The hand deviates to the radial side and the
ulna is bowed
C. CLUB FOOT OR TALIPES EQUINOVARUS: is common; seen in males
more frequently
1. The sole of the foot is turned inwards, and the foot is
adducted and plantar flexed at the midtarsal joint
D. BRACHYDACTYLY: not common; there is an abnormal shortness of
the fingers or toes due to size reduction of the phalanges. This is an
inherited dominant trait often associated with short stature
E. POLYDACTYLY OR SUPERNUMERARY DIGITS: extra fingers or toes
are seen; is a common occurrence and due to an inherited dominant
trait
1. The extra digit may be incompletely formed, lack muscle
fixation, and be useless
2. In the hand, it is usually found on the radial or ulnar side (not
central); in the foot, it is usually on the fibular side
F. SYNDACTYLY (FUSED OR WEBBED DIGITS): one of the most
common malformations. It is the result of failure of differentiation
between 2 or more digits. It is inherited as a simple dominant or
recessive trait
1. The webbing between the toes or fingers fails to break down
during development
2. In some cases, there is also fusion of bones
3. It is most frequently seen between fingers 3 and 4 and toes 2
and 3
G. CONGENITAL HIP DISLOCATION: the capsule of the hip joint is
abnormally relaxed at birth with underdevelopment of the acetabulum
of the hip and head of the femur
1. Dislocation usually takes place after birth
2. It is a relatively common phenomenon and is more frequently
seen in females

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Chapter 71. Malformations of The Appendicular Skeleton (the Limbs) - Review of Medical Embryology Book - LifeMap Discovery
3. It is associated with abnormal acetabulum development and
joint laxity
H. SYMPODIA OR SIRENOMELIA: in this condition, the lower limbs are
fused, a defect always associated with a disturbance in the formation
of the pelvis
1. The single lower extremity most commonly contains a single
femur, 2 or 3 bones below the knee, and 5 or 6 digits
attached to the foot
I. ARACHNODACTYLY (MARFAN'S SYNDROME): uncommon congenital
and usually hereditary condition seen in tall slender individuals
1. Characterized by thin fingers and toes with elongated
phalanges, metacarpals, and metatarsals ("spider" fingers and
toes)
2. Asymmetry of skull seen in 80% of cases
3. Marked atrophy and weakness of all muscles and laxity of
ligaments
4. 50% have eye deformities
5. May see barrel-shaped thorax with kyphosis and marked
pronation of feet

70. Dermatome And Cutaneous Innervation Of The Limbs

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72. Development Of The Integumentary System: Ectoderma

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