A rare case of Bardet–Biedl syndrome

We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver funct...

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Autores principales: Shrinkhal, Singh, Anupam, Agrawal, Ajai, Mittal, Sanjeev Kumar, Udenia, Hemlata, Bandu, Ghawghawe Harshad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442099/
https://www.ncbi.nlm.nih.gov/pubmed/32874845
http://dx.doi.org/10.4103/tjo.tjo_62_19
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author Shrinkhal,
Singh, Anupam
Agrawal, Ajai
Mittal, Sanjeev Kumar
Udenia, Hemlata
Bandu, Ghawghawe Harshad
author_facet Shrinkhal,
Singh, Anupam
Agrawal, Ajai
Mittal, Sanjeev Kumar
Udenia, Hemlata
Bandu, Ghawghawe Harshad
author_sort Shrinkhal,
collection PubMed
description We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment.
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spelling pubmed-74420992020-08-31 A rare case of Bardet–Biedl syndrome Shrinkhal, Singh, Anupam Agrawal, Ajai Mittal, Sanjeev Kumar Udenia, Hemlata Bandu, Ghawghawe Harshad Taiwan J Ophthalmol Case Report We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment. Wolters Kluwer - Medknow 2019-10-17 /pmc/articles/PMC7442099/ /pubmed/32874845 http://dx.doi.org/10.4103/tjo.tjo_62_19 Text en Copyright: © 2020 Taiwan J Ophthalmol http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Shrinkhal,
Singh, Anupam
Agrawal, Ajai
Mittal, Sanjeev Kumar
Udenia, Hemlata
Bandu, Ghawghawe Harshad
A rare case of Bardet–Biedl syndrome
title A rare case of Bardet–Biedl syndrome
title_full A rare case of Bardet–Biedl syndrome
title_fullStr A rare case of Bardet–Biedl syndrome
title_full_unstemmed A rare case of Bardet–Biedl syndrome
title_short A rare case of Bardet–Biedl syndrome
title_sort rare case of bardet–biedl syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442099/
https://www.ncbi.nlm.nih.gov/pubmed/32874845
http://dx.doi.org/10.4103/tjo.tjo_62_19
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