Marden-Walker Syndrome
Marden-Walker 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.

Brain and posterior fossa malformations are frequent. Dandy-Walker abnormality and brainstem hypoplasia may occur. It is an autosomal recessive condition.

Amyoplasia Congenita
Neonates 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 [B]).

Figure 162.2— Amyoplasia congenita. [A] Typical facial appearance. [B] Abnormal position of the limbs.