Houda Mounji, Malika Benfdil, Youssef Lakhdar, Mohamed Chehbouni, Youssef Rochdi, Hassan Nouri, Abdelaziz RajiIndian Journal of Otology 2021 27(3):144-147
Background: Waardenburg syndrome (WS) is an autosomal dominant inherited genetic condition that manifests with sensorineural deafness and pigmentation defects of the skin, hair, and iris. This genetically and clinically heterogeneous disease accounts for 2% of the congenitally deaf population. Objectives: The aim of our study is to determine epidemiological and clinical characteristics of this group to improve the management, especially for the hearing impairment. Methods: Seven cases were diagnosed during the examination of children with suspected congenital deafness. Results: The age of our children ranged from 1.3 to 5 years, with a median age of 3.6 years, with female predominance; no consanguineous marriage and fetal or perinatal history have been reported; there was family history of premature greying in four cases and deafness in two cases. Two patients had WS Type 1 with a dystopia canthorum, while four cases had WS Type 2. There was one patient with Waardenburg Klein or Shah syndrome. The otoscopy was normal in all children. Evoked auditory potentials, otoacoustic emissions, and tonal audiometry were performed; they had shown a congenital, sensorineural bilateral, and profound hearing loss >100 dB in all cases. All children had received a cochlear implantation followed by speech reeducation. A genetic consultation was carried out for all our children. Conclusion: WS is a relatively common genetic cause of sensorineural hearing loss. Early diagnosis and improvement of hearing impairment are most important for psychological and intellectual development of the children with WS.
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