G. Singh, Kunal Ahya, D. Shrikhande, S. Patil, A. Desai, Niranjan Bommisetti Kurukuti, S. Yadav, R. Girdhar
{"title":"Waardenburg syndrome type I- a rare case report","authors":"G. Singh, Kunal Ahya, D. Shrikhande, S. Patil, A. Desai, Niranjan Bommisetti Kurukuti, S. Yadav, R. Girdhar","doi":"10.5549/IJSR.1.1.29-31","DOIUrl":null,"url":null,"abstract":"Waardenburg syndrome (WS) is an inherited autosomal dominant disorder characterized by varying degrees of hearing loss and pigmentary anomalies affecting the eye, hair, skin. It is a rare syndrome affecting about 1 in 42,000 individuals. We herein report a case of WS type I in an 8 day old neonate, which to the best knowledge of the authors is the youngest reported case in literature.","PeriodicalId":299761,"journal":{"name":"International journal of students' research","volume":"99 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of students' research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5549/IJSR.1.1.29-31","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Waardenburg syndrome (WS) is an inherited autosomal dominant disorder characterized by varying degrees of hearing loss and pigmentary anomalies affecting the eye, hair, skin. It is a rare syndrome affecting about 1 in 42,000 individuals. We herein report a case of WS type I in an 8 day old neonate, which to the best knowledge of the authors is the youngest reported case in literature.