title: Musculoskeletal manifestations of the Antley-Bixler syndrome.
abstract: The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. The most common skeletal deformities are radiohumeral synostosis, craniosynostosis, multiple joint contractures, and arachnodactyly. Other orthopedic manifestations that may occur are femoral bowing, ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, vertebral body anomalies, perinatal fractures, and advanced skeletal age. The inheritance pattern is thought to be autosomal recessive. A patient with this syndrome is described, which is the 18th of 24 reports published in the world literature. This case is compared with the other reported cases.
authors.affiliation: Department of Surgery, Children's Hospital of Eastern Ontario, University of Ottawa, Canada.
authors.forename: K M
authors.initials: KM
authors.lastname: Rumball
authors.forename: E
authors.initials: E
authors.lastname: Pang
authors.forename: R M
authors.initials: RM
authors.lastname: Letts
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D003025:Clubfoot / Q000175:diagnosis* / Q000235:genetics; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics