Antley-Bixler syndrome: case report and review of the literature.

The purpose of this report is to describe a patient with a pattern of malformations very similar to those described by Antley and Bixler. They include craniosynostosis, midface hypoplasia with proptosis, ear anomalies, choanal stenosis, long tapered fingers with a bulbous tip, elbow joint contracture due to radio-ulnar synostosis and talipes equinovarus. Necropsy revealed cardiac and renal malformations. The infant died a few days after birth, of respiratory failure. Unlike previously described cases the elbow joint contracture was due to radio-ulnar synostosis rather than radio-humeral synostosis, she did not have long bone fractures and the femora were not markedly bowed. Since the first report in 1975, at least 23 cases have been reported.