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Antley-Bixler Syndrome
Antley-Bixler syndrome should be considered in a neonate with dysmorphic facial features (Figure 154.1) and arthrogryposis.

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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).

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Figure 154.2. Antley-Bixler syndrome. Arthrogryposis of the elbows.

Other associated anomalies may include spinal and distal limbs abnormalites (Figure 154.3).

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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.

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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.

Diastrophic dysplasia
Diastrophic means crooked. Neonates with diastrophic dysplasia are short and the limbs are crooked (Figure 154.5). Diastrophic dysplasia may be associated with respiratory obstruction due to laryngeal stenosis. Death may occur due to obstructive apnea.

Figure 154.5. Diastrophic dysplasia. Arthrogryposis of both feet.

 

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Jones, 1997