Bardet-Biedl syndrome associated with vaginal atresia: a case report

Uguralp S., Demircan M. , Cetin S., Sigirci A.

TURKISH JOURNAL OF PEDIATRICS, cilt.45, ss.273-275, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 45 Konu: 3
  • Basım Tarihi: 2003
  • Sayfa Sayıları: ss.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.