Cherian MP et al. - An unusual presentation of Bardet–Biedl syndrome is reported: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet–Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet–Biedl syndrome.
