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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 18, No. 1, 2008, pp. 71-74
Bioline Code: pe08012
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 18, No. 1, 2008, pp. 71-74

 en Waardenburg- Shah Syndrome; A Case Report and Review of the Literature
Egbalian, Fatemeh

Abstract

Objective: Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural- crest- derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. Waardenburg syndrome type 4, also called Waardenburg- Shah syndrome, is a very rare congenital disorder with variable clinical expression, characterised by Hirschsprung disease, and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness.
Case Presentation:This report describes a five-day-old female newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities
Conclusion: Different symptoms of Waardenburg syndrome appear in different people. Some individuals will require no treatment, while other may need treatment or surgery for other abnormalities.Our case had other unusual feature (bilateral external ear agenesis) we did not find any similar finding in review the relevant literature.

Keywords
Waardenburg- Shah syndrome; Hirschsprung disease

 
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