Bardet-Biedl Syndrome: A Case Report

Bardet-Biedl Syndrome: A Case Report

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 r...

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Bibliographic Details
Published in:Journal of Dhaka Medical College Vol. 31; no. 2; pp. 264 - 267
Main Authors: Islam, Aminul, Rahman, Md Motlabur, Datta, Ponkaj Kanti, Sajib, Md Kamrul Hasan, Imran, Md Rakib Al, Haque, Md Manjurul, Saikot, Md Ahsan Ul Matin, Khan, Md Sanaullah, Khan, Md Abu Daud, Sakib, Kazi Nazmus, Mitra, Anik
Format: Journal Article
Language:English
Published: 09-07-2024
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Summary: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
ISSN:1028-0928
2219-7494
DOI:10.3329/jdmc.v31i2.73176