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Shah-Waardenburg syndrome.

Abstract
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.
AuthorsRajesh Sankar
JournalDermatology online journal (Dermatol Online J) Vol. 14 Issue 1 Pg. 19 (Jan 15 2008) ISSN: 1087-2108 [Electronic] United States
PMID18319036 (Publication Type: Case Reports, Journal Article)
Topics
  • Hirschsprung Disease (complications)
  • Humans
  • Infant
  • Intestinal Obstruction (etiology)
  • Male
  • Waardenburg Syndrome (complications, diagnosis)

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