Holt-oram syndrome: A case report

Abstract

Holt-Oram syndrome is autosomal dominant heritable disorder which is characterised with upper extemity and cardiac anomalies. Aplasia, hipoplasia and fusion is shown in radial, carpal and thenar bones. Secundum atrial septal defect and muscular ventricular septal defect are the most frequent cardiac anomalies. Surgical operation can be made to correct cardiac defect and extremity function. Prognosis is generally good and depends on cardiac anomalies severity. In this article, a newborn case, who has left radius and first metacarpal bone aplasia and secundum atrial septal defect and patent ductus arteriosus, is diagnosed with Holt-Oram syndrome and presented because of rare seen.