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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 19, No. 2, 2009, pp. 189-192
Bioline Code: pe09031
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 19, No. 2, 2009, pp. 189-192

 en Waardenburg Syndrome Type I in an Iranian Female
Tayebi, Naeimeh

Abstract

Background: Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by congenital hearing loss; dystopia canthorum; broad nasal root; depigmantation of hair, skin or both; and heterochromic iris. WS is classified into four types, WS1, WS2, WS3 and WS4. In this paper, we report a new case of Waardenburg syndrome type I in an Iranian female.
Case presentation: This report describes a two-year-old female with Waardenburg syndrome type I with features such as unilateral profound sensorineural hearing loss, white forelock, dystopia canthorum, broad nasal root, hypopigmentation of skin and scalp defect.
Conclusion: As no treatment is available for patients with WS1, conservative treatments such as skin graft and referral to a hearing specialist are crucial for the normal development of patients.

Keywords
Waardenburg syndrome, White forelock, Congenital sensorineural hearing loss

 
© © 2009 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
Alternative site location: http://diglib.tums.ac.ir/pub/

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