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

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dc.authorscopusid6602665931
dc.authorscopusid57018844500
dc.authorscopusid57196653167
dc.authorscopusid6701859321
dc.contributor.authorU?uralp S.
dc.contributor.authorDemircan M.
dc.contributor.authorÇetin S.
dc.contributor.authorSi?irci A.
dc.date.accessioned2024-08-04T19:59:13Z
dc.date.available2024-08-04T19:59:13Z
dc.date.issued2003
dc.departmentİnönü Üniversitesien_US
dc.description.abstractThis 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.en_US
dc.identifier.endpage275en_US
dc.identifier.issn0041-4301
dc.identifier.issue3en_US
dc.identifier.pmid14696812en_US
dc.identifier.scopus2-s2.0-0242691943en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage273en_US
dc.identifier.urihttps://hdl.handle.net/11616/90474
dc.identifier.volume45en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBardet-Biedl syndromeen_US
dc.subjectVaginal atresiaen_US
dc.titleBardet-Biedl syndrome associated with vaginal atresia: A case reporten_US
dc.typeArticleen_US

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