Shah-Waardenburg syndrome.
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.
Sankar
Rajesh
R
Dermatology Consultation, Kalamassery, Ernakulam, India.
D006627:Hirschsprung Disease / Q000150:complications; D006801:Humans; D007223:Infant; D007415:Intestinal Obstruction / Q000209:etiology; D008297:Male; D014849:Waardenburg Syndrome / Q000150:complications / Q000175:diagnosis*