Mesoaxial Hexadactyly And Cardiac Malformation

The Holt-Oram, Ellis-van Creveld, and Kaufman syndromes may be called cardiomelic dysplasias. Martinez-y-Martinez et al. (1981) described a new form in brother and sister who had mesoaxial hexadactyly (bifid third finger) and severe cardiac malformation. The sister died at age 6 days of cyanotic cardiorespiratory distress. The surviving brother, at age 17, was mildly mentally retarded with short stature and infantile genitalia. He also showed everted lower lip and ocular torticollis. Cardiac surgery at age 11 consisted of repair of atrial and ventricular septal defects, pulmonary valvulotomy for stenosis, and closure of a persistent ductus arteriosus (see 607411).