title: Waardenburg syndrome in the Turkish deaf population.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Duzce Faculty of Medicine, University of Abant Izzet Baysal, Duzce, Turkey. fsilan@dtip.edu.tr
authors.forename: F
authors.initials: F
authors.lastname: Silan
authors.forename: C
authors.initials: C
authors.lastname: Zafer
authors.forename: I
authors.initials: I
authors.lastname: Onder
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003638:Deafness / Q000150:complications* / Q000151:congenital / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D014421:Turkey / Q000453:epidemiology; D014849:Waardenburg Syndrome / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*