The Antley-Bixler syndrome: two new cases.
The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.
Hosalkar
H S
HS
Division of Paediatric Orthopaedics, The Valley Children's Hospital, UCSF, California, USA. hosalkarish@hotmail.com
Shah
H S
HS
Gujar
P S
PS
Shaw
B A
BA
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D003286:Contracture / Q000000981:diagnostic imaging / Q000235:genetics; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics