Case Study

Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

Sadia Saber
Bangladesh Medical College, Bangladesh
* Corresponding author
Mohammad Dabir Hossain
Bangladesh Medical College, Bangladesh
Mohammed Tarek Alam
Bangladesh Medical College, Bangladesh
Mohammad Monower Hossain
Bangladesh Medical College Hospital, Bangladesh
Suhail Gulzar
Bangladesh Medical College Hospital, Bangladesh
DOI icon 10.24018/ejmed.2021.3.1.623

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Submitted 2020-12-19
Published 2021-01-14

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Table of Contents

Article Main Content

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

Keywords: Bardet Biedl, Hypogonadism, Postaxial Polydactyly

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