[Holt-Oram syndrome. Presentation of a clinical case].
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.
Amilachwari
M
M
Servicio de Cardiología, Hospital de Niños J.M. de los Ríos, Caracas, Venezuela.
Capriles
M A
MA
Regalado de Amilachwari
M E
ME
Zerpa-Caires
F
F
D002648:Child; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*
Síndrome de Holt-Oram. Presentación de un caso clínico.