G. Singh, Kunal Ahya, D. Shrikhande, S. Patil, A. Desai, Niranjan Bommisetti Kurukuti, S. Yadav, R. Girdhar
{"title":"Waardenburg综合征I型1例报道","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":"{\"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}","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}
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.
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