title: [Holt-Oram syndrome. Presentation of a clinical case].
abstract: This case report deals with a nine year old male patient suffering from Holt-Oram Syndrome, an autosomic dominant disease which causes diverse skeletal malformations and several heart deformities. This is a case with no apparent family history of the disease. The outstanding clinical findings include: a defect of the auricular septum (ostium secundum type), a tri-phalanx thumb, hypoplasia of the first metacarpal and a shorter left arm. The skeletal abnormalities did not effect his manual capability nor his development. This case includes: series of skeletal X-rays, cardiovascular examinations, an examination of motor function. Surgical correction should be considered as part of a careful therapeutic plan. The patient's pre- and postsurgical evaluation are considered.
authors.affiliation: Servicio de Cardiología, Hospital de Niños J.M. de los Ríos, Caracas, Venezuela.
authors.forename: M
authors.initials: M
authors.lastname: Amilachwari
authors.forename: M A
authors.initials: MA
authors.lastname: Capriles
authors.forename: M E
authors.initials: ME
authors.lastname: Regalado de Amilachwari
authors.forename: F
authors.initials: F
authors.lastname: Zerpa-Caires
mesh_terms: D002648:Child; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*
vernacular_title: Síndrome de Holt-Oram. Presentación de un caso clínico.