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Waardenburg Syndrome:2Cases Report And Review Of The Literature

Posted on:2015-02-05Degree:MasterType:Thesis
Country:ChinaCandidate:L J ZhaFull Text:PDF
GTID:2284330467970631Subject:Otolaryngology science
Abstract/Summary:PDF Full Text Request
Waardenburg syndrome (WS) is a type of inherited syndrome characterized by congenital sensorineural hearing loss and hypopigmentation of the skin,iris and hair. WS is thought to be caused by a failure of proliferation,migration or differentiation in the neural crest. The penetrance of WS is not100%. Therefore cases from the single affected family may have variant clinical manifestations. WS is genetic heterogeneous that. As we know,it has been found that a variaty of mutant genes result in WS. Cochlear implantation is only helpful for WS patients with congenital sensorineural hearing loss. We report2cases of WS and review the related literatures.The purpose of the present paper is to improve our understanding of epidemiology, clinical features, diagnosis, pathogenesis, and treatment of WS.
Keywords/Search Tags:Waardenburg syndrome, neural crest, congenital sensorineural hearingloss, genic mutation, cochlear implantation
PDF Full Text Request
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