
doi: 10.5070/d3320362vw
pmid: 18319036
A case of Shah-Waardenburg syndrome, a rare variant of Waardenburg syndrome, is presented. Inherited as an autosomal recessive or dominant trait, the disorder presumably results from defective migration of neural crest cells. It clinically manifests with pigmentary anomalies and congenital megacolon.
Male, Humans, Infant, Waardenburg Syndrome, Hirschsprung Disease, Intestinal Obstruction
Male, Humans, Infant, Waardenburg Syndrome, Hirschsprung Disease, Intestinal Obstruction
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