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 of end-stage renal disease.