Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic disorder. Because of its low prevalence and wide spectrum of clinical features, many patients remain undiagnosed. We report a case of a 14‐year‐old boy with a typical phenotype of BBS who remains undiagnosed until the development...

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Autores principales: Rasel, Mohammad, Istiak, Ashif, Saiara, Afra, Al‐Jubair, Abdullah, Matin, Shariful, Roy, Gobinda Chandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319965/
https://www.ncbi.nlm.nih.gov/pubmed/37415582
http://dx.doi.org/10.1002/ccr3.7649
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author Rasel, Mohammad
Istiak, Ashif
Saiara, Afra
Al‐Jubair, Abdullah
Matin, Shariful
Roy, Gobinda Chandra
author_facet Rasel, Mohammad
Istiak, Ashif
Saiara, Afra
Al‐Jubair, Abdullah
Matin, Shariful
Roy, Gobinda Chandra
author_sort Rasel, Mohammad
collection PubMed
description Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic disorder. Because of its low prevalence and wide spectrum of clinical features, many patients remain undiagnosed. We report a case of a 14‐year‐old boy with a typical phenotype of BBS who remains undiagnosed until the development of end‐stage renal disease.
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spelling pubmed-103199652023-07-06 Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease Rasel, Mohammad Istiak, Ashif Saiara, Afra Al‐Jubair, Abdullah Matin, Shariful Roy, Gobinda Chandra Clin Case Rep Case Report Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic disorder. Because of its low prevalence and wide spectrum of clinical features, many patients remain undiagnosed. We report a case of a 14‐year‐old boy with a typical phenotype of BBS who remains undiagnosed until the development of end‐stage renal disease. John Wiley and Sons Inc. 2023-07-04 /pmc/articles/PMC10319965/ /pubmed/37415582 http://dx.doi.org/10.1002/ccr3.7649 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Rasel, Mohammad
Istiak, Ashif
Saiara, Afra
Al‐Jubair, Abdullah
Matin, Shariful
Roy, Gobinda Chandra
Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
title Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
title_full Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
title_fullStr Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
title_full_unstemmed Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
title_short Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
title_sort bardet–biedl syndrome: delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319965/
https://www.ncbi.nlm.nih.gov/pubmed/37415582
http://dx.doi.org/10.1002/ccr3.7649
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