Hirschsprung's Disease and Waardenburg's Syndrome

Abstract
There are several reports of an association of congenital deafness with Hirschsprung's aganglionic megacolon.1,2 This patient is described because she has Hirschspning's disease in association with Waardenburg's syndrome. The genetic mechanisms and a possible causal relationship are discussed. CASE REPORT A black girl was born at 37 weeks' gestation, with a birth weight of 2,380 gm, following an uncomplicated pregnancy and a breech delivery. Apgar scores were 2 at one minute and 6 at five minutes, and the perinatal course was uncomplicated. On day 2, when no stools had been passed and abdominal distention was noted, the infant was transferred to Buffalo Children's Hospital.