Waardenburg's syndrome associated with total aganglionosis.
A Pakistani child of consanguineous parents had signs of Waardenburg's syndrome and total intestinal aganglionosis. This association seems to be a distinct clinical entity with an autosomal recessive mode of inheritance.
D000015:Abnormalities, Multiple / Q000150:complications*; D006627:Hirschsprung Disease / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014849:Waardenburg Syndrome / Q000150:complications* / Q000235:genetics