syndrome or cerebro-oculo-facio-skeletal syndrome is characterized by
the presence of a fixed facial expression, blepharophinosis, micrognathia,
and multiple joint contractures from birth (Figure 162.1).
Figure 162.1— Marden-Walker syndrome.
[A] Typical facial appearance and [B] dystal arthrogryposis.
and posterior fossa malformations are frequent. Dandy-Walker abnormality
and brainstem hypoplasia may occur. It is an autosomal recessive condition.
with amyoplasia congenita are fullterm and of average weight. They appear
healthy. They may have a round face, short upturned nostrils, and micrognathia
(Figure 162.2 [A]). A midface capillary hemangioma is often present. They
have multiple symmetrical fixed joints with typical positions and distribution.
The limbs are cylindrical and fingers are slender. The upper extremity
position is most characteristic. The shoulders are adducted and medially
rotated, elbows are extended or flexed, forearm is pronated, wrists are
flexed and have ulnar deviation, and the fingers are flexed. The upper
extremity posture, except in neonates with flexed elbows, resembles that
which occurs in patients with brachial plexus palsy involving the upper
trunk. The lower extremities are less frequently involved. When involved,
the lower extremities are flexed at the hips, knees are flexed or extended,
and the feet are in equinovarus or calcaneovalgus positions (Figure 162.2
Figure 162.2— Amyoplasia congenita. [A] Typical facial appearance.
[B] Abnormal position of the limbs.