مرکز منطقه ای اطلاع رساني علوم و فناوري -

چكيده لاتين :

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.