Genital anomaly and cardiomyopathy: a new syndrome

Abstract

Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of 3 other brothers of another consanguineous family who in addition had evidence of mental retardation. These 5 boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.