Figure 154.1.— Antley-Bixler syndrome. [A and B] Facial features: brachycephaly, prominent frontal bossing, dysplastic ears, midfacial hypoplasia, depressed nasal bridge, and proptosis.
Arthrogryposis involves the fingers, wrist, elbows , hips, and ankles. Arthrogryposis of the elbows is most common (Figure 154.2).
Figure 154.2.— Antley-Bixler syndrome. Arthrogryposis of the elbows.
Other associated anomalies may include spinal and distal limbs abnormalites (Figure 154.3).
Figure 153.3— Antley-Bixler syndrome. [A] sacral tag; [B] broad thumb; [C] broad toes.
The diagnosis is confirmed by conventional radiographs demonstrating bony abnormalities, especially in the presence of radiohumeral synostosis (Figure 154.4 A) and femoral bowing. Patients with Antley-Bixler syndrome may die during the neonatal period as a result of choanal atresia (Figure 154.3 B). Survivors have normal intelligence. Contractures improve with age. This syndrome is probably an autosomal recessive disorder.
Figure 154.4.— Antley-Bixler syndrome. [A] radiohumeral synostosis; [B] abnormal skull do to craniosinostosis leading to large orbits and bony abnormality that predisposes to choanal atresia.
Figure 154.5.— Diastrophic dysplasia. Arthrogryposis of both feet.