Lucas Sardinha Barreto, Victor Leone de Andrade, Letícia Lima Santos, Thyago Henrique Neves da Silva Filho, Reigson Alves Dias, Ana Carla de Oliveira Domingos Silva
{"title":"ANEMIA DE FANCONI","authors":"Lucas Sardinha Barreto, Victor Leone de Andrade, Letícia Lima Santos, Thyago Henrique Neves da Silva Filho, Reigson Alves Dias, Ana Carla de Oliveira Domingos Silva","doi":"10.22533/AT.ED.0612119071","DOIUrl":null,"url":null,"abstract":"Introduction: There is a paucity of research on otologic and audiologic abnormalities in Fanconi Anemia (FA). Since these alterations are not entirely characterized the main aim of this study is to describe the otologic and audiologic alterations in children with FA referred to our pediatric hearing loss consultation as part of the clinical evaluation protocol established. Methods: The medical records of eleven patients were reviewed and patient demographics, clinical features associated with FA and otologic and audiologic findings were analyzed. Results: Eleven patients, aged between one month and eight years old at diagnosis, were analyzed. Seven out of the eleven cases had hearing loss. Acta Otorrinolaringológica Gallega","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"11 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genética médica aplicada à prática clínica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22533/AT.ED.0612119071","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Introduction: There is a paucity of research on otologic and audiologic abnormalities in Fanconi Anemia (FA). Since these alterations are not entirely characterized the main aim of this study is to describe the otologic and audiologic alterations in children with FA referred to our pediatric hearing loss consultation as part of the clinical evaluation protocol established. Methods: The medical records of eleven patients were reviewed and patient demographics, clinical features associated with FA and otologic and audiologic findings were analyzed. Results: Eleven patients, aged between one month and eight years old at diagnosis, were analyzed. Seven out of the eleven cases had hearing loss. Acta Otorrinolaringológica Gallega
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