The association of Waardenburg syndrome and Hirschsprung megacolon.
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.
D000015:Abnormalities, Multiple / Q000150:complications*; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008531:Megacolon / Q000150:complications*; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics; D014849:Waardenburg Syndrome / Q000150:complications*