Uğuralp, SemaDemircan, MehmetÇetin, SelmaSığırcı, Ahmet2017-06-242017-06-242003Uğuralp, S. Demircan, M. Çetin, S. Sığırcı, A. (2003). Bardet Biedl syndrome associated with vaginal atresia a case report. Turk J Pediatr. ; 45; 273-275 .https://hdl.handle.net/11616/7176Uğuralp S, Demircan M, Çetin S, Sığırcı A. Bardet-Biedl syndrome associated with vaginal atresia: a case report. Turk J Pediatr 2003; 45: 273- 275. This is a case report of Bardet-Biedl syndrome associated with vaginal atresia diagnosed in a 15-year-old girl. She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities; a mobile, painful, nonfixed mass of 6 cm in diameter in the pelvic region; a palpable cystic mass in front of the rectal wall; and no vaginal opening. Secondary sex characteristics were determined. The vaginal atresia was distinguished from vaginal agenesis by the presence of proximal vagina in radiological examination.eninfo:eu-repo/semantics/openAccessBardet-Biedl syndromeVaginal atresiaArticle45273275