Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
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
© © 2009 by Center of Excellence for Pediatrics, Childrens Medical Center, Tehran University of Medical Sciences,All rights reserved.
Waardenburg Syndrome Type I in an Iranian Female|
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.
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.
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.
Waardenburg syndrome, White forelock, Congenital sensorineural hearing loss
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