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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Detalles Bibliográficos
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
Descripción
Sumario: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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