The Antley-Bixler syndrome.
Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D003286:Contracture / Q000151:congenital / Q000473:pathology; D003398:Craniosynostoses / Q000000981:diagnostic imaging; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging; D011859:Radiography; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging