Waardenburg syndrome in the Turkish deaf population

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dc.authorid0000-0001-7191-2240
dc.contributor.authorSılan, Fatma
dc.contributor.authorZafer, Cansu
dc.contributor.authorÖnder, İbrahim
dc.date.accessioned2021-06-23T19:19:32Z
dc.date.available2021-06-23T19:19:32Z
dc.date.issued2006
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractWaardenburg syndrome in the Turkish deaf population: Waardenburg Syndrome (WS) is an autosomal, dominantly inherited disorder that accounts for more than 2% cases of congenital deafness. The aim of this study is to determine the WS incidence among deaf pupils. Dysmorphological examination was performed on 720 children who were attending 7 special schools in Turkey and who had hearing disabilities. All subjects in the study were examined for WS diagnostic criteria. We detected 49 patients (6.8%) with WS among the 720 children examined. Six patients had WS type 1 (12.2%) and 43 had type 2 (87.8%). We observed 2 to 5 major diagnostic criteria for WS. Out of all the subjects in the study, only two patients have deaf first degree relatives. All subjects had been previously examined by physicians for deafness but none of them had been then diagnosed to have Waardenburg Syndrome. Instead, they were all misdiagnosed as to have nonsyndromic deafness. Awareness of WS diagnostic criteria by the physicans will provide accurate diagnosis for many deaf pupils and their first degree relatives who are able-to-hear WS patients and whose children are at risk for deafness.en_US
dc.identifier.endpage48en_US
dc.identifier.issn1015-8146
dc.identifier.issue1en_US
dc.identifier.pmid16719276en_US
dc.identifier.scopus2-s2.0-33750095673en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage41en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/5960
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-33750095673&partnerID=40&md5=8182867d6dfba0a4b39f3cc651485ec2
dc.identifier.volume17en_US
dc.identifier.wosWOS:000237311700005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorSılan, Fatma
dc.institutionauthorZafer, Cansu
dc.institutionauthorÖnder, İbrahim
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCongenitalen_US
dc.subjectDeafnessen_US
dc.subjectDystophia Canthorumen_US
dc.subjectGeneticen_US
dc.subjectHeterochromia Iridesen_US
dc.subjectWaardenburg Syndromeen_US
dc.titleWaardenburg syndrome in the Turkish deaf populationen_US
dc.typeArticleen_US

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Dahili Tıp Bilimleri Bölümü Koleksiyonu
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