PEDIATRICS Vol. 71 No. 2 February 1983, pp. 246-249
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Familial Hirschsprung's Disease and Type D Brachydactyly: A Report of Four Affected Males in Two Generations

James F. Reynolds MD1, Joseph C. Barber MD1, Bennett A. Alford MD1, James G. Chandler MD1, and Thaddeus E. Kelly MD, PhD1

1 From the Department of Pediatrics, Radiology, and Surgery, University of Virginia Medical Center, Charlottesville

Hirschsprung's disease usually occurs as an isolated malformation as a result of multifactorial causation. A family in which four males (two brothers and two maternal uncles) had Hirschsprung's disease and absence or hypoplasia of the nails and distal phalanges of the great toe and thumb (type D brachydactyly) is described. Hand abnormalities were not present in any other family members, and the obligate heterozygous females were without gastrointestinal problems. The pattern of inheritance was consistent with X-linked recessive inheritance; however, autosomal dominant inheritance with incomplete penetrance in females or multifactorial causation could not be completely excluded.

Key Words: brachydactyly • Hirschsprung's disease • congenital megacolon

Submitted on January 8, 1982
Accepted on April 23, 1982




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