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

Abstract

Key Clinical Message 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.

Keywords

• Bardet–Biedl syndrome
• central obesity
• end‐stage renal disease
• polydactyly
• retinitis pigmentosa