The association of Waardenburg syndrome and Hirschsprung megacolon

Am J Med Genet. 1979;3(3):217-23. doi: 10.1002/ajmg.1320030302.

Abstract

We describe four patients with Waardenburg syndrome and Hirschsprung aganglionic megacolon. In view of pathophysiologic relationships and animal studies, we conclude that the association of these two uncommon disorders is pathophysiologically significant.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / complications*
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Deafness / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Megacolon / complications*
  • Middle Aged
  • Pedigree
  • Pigmentation Disorders / genetics
  • Waardenburg Syndrome / complications*