Bardet-Biedl syndrome in two siblings: a rare entity revisited

Learning points for clinicians Bardet–Biedl syndrome (BBS) demonstrates highly variable expression, even among affected siblings, making the diagnosis difficult and often delayed and most patients are diagnosed in late childhood or early adulthood. The clinical diagnosis of BBS is based on the presence of at least four of five cardinal features: retinal dystrophy, polydactyly, obesity, hypogenitalism and renal disease. Significant weight gain begins in infancy and becomes a lifelong issue. Hypogonadism occurs more frequently in males than females and retinal dysfunction usually becomes apparent at age 7–8 years. Molecular investigations do not show clear phenotype–genotype correlations, therefore, the diagnosis is still made using clinical data. Characteristic retinal findings during fundoscopy may provide a clue towards diagnosis. A multidisciplinary management approach may be required in patients with BBS. The male sibling was the first child from a consanguineous marriage. This 12-year-old boy reported to us with complaint of underdevelopment of genitalia and inability to see at night. His height and weight were 138 cm and …