Bardet-Biedl syndrome associated with vaginal atresia
dc.authorid | Demircan, Mehmet/0000-0002-4022-1276 | |
dc.authorid | Sigirci, Ahmet/0000-0001-9221-0002 | |
dc.authorid | UĞURALP, SEMA/0000-0002-7628-0550 | |
dc.authorwosid | Demircan, Mehmet/B-1904-2008 | |
dc.authorwosid | Demircan, Mehmet/AAW-7162-2020 | |
dc.authorwosid | Sigirci, Ahmet/ABG-7387-2020 | |
dc.authorwosid | UĞURALP, SEMA/ABH-6309-2020 | |
dc.contributor.author | Uguralp, S | |
dc.contributor.author | Demircan, M | |
dc.contributor.author | Çetin, S | |
dc.contributor.author | Sigirci, A | |
dc.date.accessioned | 2024-08-04T20:57:14Z | |
dc.date.available | 2024-08-04T20:57:14Z | |
dc.date.issued | 2003 | |
dc.department | İnönü Üniversitesi | en_US |
dc.description.abstract | 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. | en_US |
dc.identifier.endpage | 275 | en_US |
dc.identifier.issn | 0041-4301 | |
dc.identifier.issue | 3 | en_US |
dc.identifier.pmid | 14696812 | en_US |
dc.identifier.startpage | 273 | en_US |
dc.identifier.uri | https://hdl.handle.net/11616/102458 | |
dc.identifier.volume | 45 | en_US |
dc.identifier.wos | WOS:000187576000019 | en_US |
dc.identifier.wosquality | Q4 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.publisher | Turkish J Pediatrics | en_US |
dc.relation.ispartof | Turkish Journal of Pediatrics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Bardet-Biedl syndrome | en_US |
dc.subject | vaginal atresia | en_US |
dc.title | Bardet-Biedl syndrome associated with vaginal atresia | en_US |
dc.type | Article | en_US |