Genital anomaly and cardiomyopathy: a new syndrome.
Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.
D002675:Child, Preschool; D003241:Consanguinity; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome