Hirschsprung's disease and congenital deafness. Familial assocation.
A family is described showing deafness in three consecutive generations. Hirshchsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The assocation of the two disorders in this family may be due to a single autosomal dominant gene and in this regard differs from previously reported isolated patients with Hirschsprung's disease and deafness.
D000328:Adult; D002675:Child, Preschool; D003638:Deafness / Q000150:complications* / Q000151:congenital / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008531:Megacolon / Q000150:complications* / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree