Case Report of a Patient with Waardenburg Syndrome
Authors
Tanga Regional Referral Hospital (Tanzania)
Tanga Regional Referral Hospital (Tanzania)
Article Information
DOI: 10.51244/IJRSI.2026.1305000177
Subject Category: Health
Volume/Issue: 13/5 | Page No: 1949-1952
Publication Timeline
Submitted: 2026-05-10
Accepted: 2026-05-16
Published: 2026-06-06
Abstract
Objective: Waardenburg Syndrome (WS) is a very rare condition and sparsely reported in the African Continent. WS causes significant morbidity, especially regarding Congenital Hearing Loss.
Case: A 10-year-old girl reported to our clinic with congenital hearing loss and the inability to speak. The girl also had a patch of white hair on the front and deep blue eyes. An Otoacoustic Emission (OAE) test and High-Resolution CT of the Temporal bone were done. Congenital Hearing loss was confirmed, and counselling was done for the child to develop alternative communication methods.
Keywords
Paediatrics. Otorhinolaryngology.
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References
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