Antley-Bixler syndrome with radioulnar synostosis.
This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome.
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003398:Craniosynostoses / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging*; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging*; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging*