Bardet-Biedl syndrome associated with vaginal atresia

Küçük Resim Yok

Tarih

2003

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Turkish J Pediatrics

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Bardet-Biedl syndrome, vaginal atresia

Kaynak

Turkish Journal of Pediatrics

WoS Q Değeri

Q4

Scopus Q Değeri

Cilt

45

Sayı

3

Künye