Three-generation transmission of Hirschsprung's disease.
A three-generation family with non-syndromic biopsy-proven Hirschsprung's disease involving both short and long segments of the large bowel is reported. Although this is the first three-generation family reported, it is expected that with the improved diagnosis and treatment that has occurred over the last 30 years further such families will be described, and that the heritability of this condition will be further clarified.
D005260:Female; D005808:Genes, Recessive; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007420:Intestine, Large / Q000002:abnormalities; D008297:Male; D010375:Pedigree