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.
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Authors | Rajesh Sankar |
Journal | Dermatology online journal
(Dermatol Online J)
Vol. 14
Issue 1
Pg. 19
(Jan 15 2008)
ISSN: 1087-2108 [Electronic] United States |
PMID | 18319036
(Publication Type: Case Reports, Journal Article)
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Topics |
- Hirschsprung Disease
(complications)
- Humans
- Infant
- Intestinal Obstruction
(etiology)
- Male
- Waardenburg Syndrome
(complications, diagnosis)
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