title: Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?
abstract: We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.
authors.affiliation: Secció de Genética, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Antich
authors.forename: M
authors.initials: M
authors.lastname: Iriondo
authors.forename: I
authors.initials: I
authors.lastname: Lizarraga
authors.forename: R
authors.initials: R
authors.lastname: Manzanares
authors.forename: V
authors.initials: V
authors.lastname: Cusi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001006:Anus, Imperforate / Q000175:diagnosis*; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005269:Femur / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging