title: Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report.
abstract: We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported before as a manifestation of Antley-Bixler syndrome. Her mother was exposed to radiation during an intravenous urogram done in the first trimester of pregnancy. Exposure to radiation has not been implicated as a cause of Antley-Bixler syndrome.
authors.affiliation: Department of Orthopaedics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, Kelantan, Malaysia. abdrazak@kb.usm.my
authors.forename: A R
authors.initials: AR
authors.lastname: Sulaiman
authors.forename: H
authors.initials: H
authors.lastname: Nawaz
authors.forename: I
authors.initials: I
authors.lastname: Munajat
authors.forename: A Y
authors.initials: AY
authors.lastname: Sallehudin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000016:Abnormalities, Radiation-Induced; D002648:Child; D002972:Cleft Palate / Q000209:etiology; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D006811:Humerus; D011884:Radius; D013577:Syndrome; D013580:Synostosis / Q000175:diagnosis*; D014059:Tongue / Q000002:abnormalities