Bardet Biedl syndrome associated with vaginal atresia a case report

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Küçük Resim

Tarih

2003

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Turk J Pediatr

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

Uğuralp 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.

Açıklama

Anahtar Kelimeler

Bardet-Biedl syndrome, Vaginal atresia

Kaynak

Turk J Pediatr

WoS Q Değeri

Scopus Q Değeri

Cilt

45

Sayı

Künye

Uğuralp, S. Demircan, M. Çetin, S. Sığırcı, A. (2003). Bardet Biedl syndrome associated with vaginal atresia a case report. Turk J Pediatr. ; 45; 273-275 .