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

ABSTRACT: 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.

SUBMITTER: Rasel M 

PROVIDER: S-EPMC10319965 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature