Aminul Islam, Md Motlabur Rahman, P. K. Datta, Md. Kamrul H. Sajib, Md Rakib Al Imran, Md Manjurul Haque, Md Ahsan Ul Matin Saikot, Md Sanaullah Khan, Md Abu Daud Khan, Kazi Nazmus Sakib, Anik Mitra
{"title":"Bardet-Biedl Syndrome: A Case Report","authors":"Aminul Islam, Md Motlabur Rahman, P. K. Datta, Md. Kamrul H. Sajib, Md Rakib Al Imran, Md Manjurul Haque, Md Ahsan Ul Matin Saikot, Md Sanaullah Khan, Md Abu Daud Khan, Kazi Nazmus Sakib, Anik Mitra","doi":"10.3329/jdmc.v31i2.73176","DOIUrl":null,"url":null,"abstract":"Bardet-Biedl syndrome (BBS) is a rare autosomal recessive multisystem involvement genetic disorder with a broad spectrum of clinical presentations. It is characterized by rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males or genital abnormalities in females, and renal impairment. We present a case of a 12-year-old boy who complained of gradual loss of vision (particularly noticeable at night), obesity, hypogenitalism, and polydactyly. In addition, he had postaxial polydactyly in all limbs, obesity, retinitis pigmentosa, learning disabilities, hypogenitalism, speech delay, developmental delay, astigmatism, and acanthosis nigricans. Multidisciplinary approaches need to manage this disorder and need regular followup. Genetic counselling is essential. \nJ Dhaka Med Coll. 2022; 31(2) : 264-267","PeriodicalId":320976,"journal":{"name":"Journal of Dhaka Medical College","volume":"79 11","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Dhaka Medical College","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3329/jdmc.v31i2.73176","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
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive multisystem involvement genetic disorder with a broad spectrum of clinical presentations. It is characterized by rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males or genital abnormalities in females, and renal impairment. We present a case of a 12-year-old boy who complained of gradual loss of vision (particularly noticeable at night), obesity, hypogenitalism, and polydactyly. In addition, he had postaxial polydactyly in all limbs, obesity, retinitis pigmentosa, learning disabilities, hypogenitalism, speech delay, developmental delay, astigmatism, and acanthosis nigricans. Multidisciplinary approaches need to manage this disorder and need regular followup. Genetic counselling is essential.
J Dhaka Med Coll. 2022; 31(2) : 264-267
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