The association of imperforate anus and Hirschsprung's disease in siblings.
The recognition of Hirschsprung's disease is often delayed in children with imperforate anus. Two siblings with imperforate anus who were born of consanguineous parents had persistent constipation after the repair of the anorectal malformation. Subsequently colon biopsy confirmed that each had long segment aganglionosis beginning at the splenic flexure. A suspicion that these two disorders may coexist is mandatory for early correct diagnosis.
D001006:Anus, Imperforate / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D003106:Colon / Q000473:pathology; D005260:Female; D005724:Ganglia / Q000473:pathology; D006627:Hirschsprung Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography