Aphalangy With Hemivertebrae

Johnson and Munson (1990) described infant sibs, a female and male, with aphalangy of the hands and feet, hemivertebrae, and visceral malformations which included, in the female, pulmonary hypoplasia, ventricular septal defect, and dysgenesis of the urogenital tract and rectum. The female died in the neonatal period; the male was in good health with normal psychomotor development at the age of 6 months. The mother and her father and grandfather had symphalangism (185800) of both index fingers. Johnson and Munson (1991) reported the birth of another affected brother.