Bardet-Biedl syndrome associated with vaginal atresia: a case report.
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.
Uğuralp
Sema
S
Department of Pediatric Surgery, Turgut Ozal Medical Center, Inönü University Faculty of Medicine, Malatya, Turkey.
Demircan
Mehmet
M
Cetin
Selma
S
Siğirci
Ahmet
A
D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D014057:Tomography, X-Ray Computed; D014621:Vagina / Q000002:abnormalities* / Q000601:surgery