title: [Alagille's syndrome associated with proximal radio-ulnar synostosis: Clinical case and a literature review].
abstract: Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The association of Alagille's syndrome with radio-ulnar synostosis is extremely rare. There is only one case described in the indexed literature. A case is presented of Alagille's syndrome with bilateral proximal radioulnar synostosis. To the best of our knowledge this is the second reported case of this association.
authors.affiliation: Unidad de Mano, Servicio de Ortopedia y Traumatología, Hospital POVISA, Vigo, España. Electronic address: couceirox@gmail.com.
authors.forename: J
authors.initials: J
authors.lastname: Couceiro
authors.affiliation: Servicio de Cirugía Plástica y Reparadora, Hospital POVISA, Vigo, España.
authors.forename: B
authors.initials: B
authors.lastname: Gómez
authors.affiliation: Unidad de Mano, Servicio de Ortopedia y Traumatología, Hospital POVISA, Vigo, España.
authors.forename: M
authors.initials: M
authors.lastname: Sanmartín
mesh_terms: D016738:Alagille Syndrome / Q000175:diagnosis*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013580:Synostosis / Q000175:diagnosis*; D014457:Ulna / Q000002:abnormalities*
keywords: Alagille; Radioulnar synostosis; Sinostosis radiocubital; Tratamiento; Treatment