[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.