Laís Michelini Gabanella, Milena da Rosa Adami, Natália Botelho Libonati, Flávia Martins Linhares
{"title":"Síndrome de Waardenburg: relato de caso de criança e seu grupo familiar em uma Unidade Básica de Saúde","authors":"Laís Michelini Gabanella, Milena da Rosa Adami, Natália Botelho Libonati, Flávia Martins Linhares","doi":"10.5935/2238-3182.2022e33407","DOIUrl":null,"url":null,"abstract":"Brainstem Evoked Response Audiometry exam was instructed to confirm the hearing loss. After diagnosis, the presence of phenotypic characteristics indicative of Waardenburg syndrome was noted in six other family members - mother, maternal grandfather and brother, great-grandfather's cousin, two great-uncles. Conclusion: Early diagnosis allows adequate stimulation for hearing loss and reinforces the importance of genetic counseling and family planning, in addition to allowing the family to study sign language, aiming to improve the quality of life of patients with Waardenburg syndrome.","PeriodicalId":498063,"journal":{"name":"Revista Médica de Minas Gerais","volume":"43 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Médica de Minas Gerais","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5935/2238-3182.2022e33407","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
Brainstem Evoked Response Audiometry exam was instructed to confirm the hearing loss. After diagnosis, the presence of phenotypic characteristics indicative of Waardenburg syndrome was noted in six other family members - mother, maternal grandfather and brother, great-grandfather's cousin, two great-uncles. Conclusion: Early diagnosis allows adequate stimulation for hearing loss and reinforces the importance of genetic counseling and family planning, in addition to allowing the family to study sign language, aiming to improve the quality of life of patients with Waardenburg syndrome.
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