Síndrome de Holt Oram en el recién nacido: reporte de caso

Abstract

Holt Oram syndrome or atriodigital dysplasia, is caused by a rare autosomal dominant disorder given by a mutation in the long arm of chromosome 12 of the TBX5 gene, this disorder produces cardiac disorders such as interatrial and interventricular septal defects, and failures in the heart conduction system, in addition we can evidence skeletal abnormalities. The case presented is about a girl newborn who has prenatal history of diabetic mother without adherence to treatment and presents atrial and ventricular septal defect associated to overriding aorta showed by echocardiogram in addition to defects in the left upper limb and right lower limb.