The Turkish Journal of Pediatrics 2003 , Vol 45 , Num 3
Bardet-Biedl syndrome associated with vaginal atresia: a case report

Department of Pediatric Surgery, Turgut Özal Medical Center, İnönü University Faculty of Medicine, Malatya, Turkey

Department of Radiology, Turgut Özal Medical Center, İnönü University Faculty of Medicine, Malatya, Turkey

Abstract

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.

Keywords : Bardet-Biedl syndrome vaginal atresia
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