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.
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Centro per lo Studio delle Malformazioni Congenite, Università di Cagliari, Italy.
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D000015:Abnormalities, Multiple; D003286:Contracture / Q000150:complications; D003398:Craniosynostoses / Q000150:complications; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome