Fraser Syndrome: A Report of Two Cases
dc.contributor.author | Kilinc, Nihal | |
dc.contributor.author | Demir, Sureyya | |
dc.contributor.author | Demir, Bulent | |
dc.date.accessioned | 2025-01-27T21:19:59Z | |
dc.date.available | 2025-01-27T21:19:59Z | |
dc.date.issued | 2015 | |
dc.department | Çanakkale Onsekiz Mart Üniversitesi | |
dc.description.abstract | Fraser syndrome (cryptophthalmos syndactyly syndrome) is a rare autosomal recessive disorder. The main features are cryptophthalmos (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver, and the central nervous system. Renal anomalies (unilateral/bilateral agenesis) occur in 85% of cases. These anomalies were first documented by Fraser in 1962. In this paper, we present two cases of Fraser syndrome diagnosed after a normal spontaneous vaginal delivery without prenatal follow-up in the light of the literature. | |
dc.identifier.doi | 10.4274/haseki.2503 | |
dc.identifier.endpage | 276 | |
dc.identifier.issn | 1302-0072 | |
dc.identifier.issn | 2147-2688 | |
dc.identifier.issue | 3 | |
dc.identifier.scopus | 2-s2.0-84941558048 | |
dc.identifier.scopusquality | Q3 | |
dc.identifier.startpage | 273 | |
dc.identifier.uri | https://doi.org/10.4274/haseki.2503 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12428/28790 | |
dc.identifier.volume | 53 | |
dc.identifier.wos | WOS:000216755500023 | |
dc.identifier.wosquality | N/A | |
dc.indekslendigikaynak | Web of Science | |
dc.indekslendigikaynak | Scopus | |
dc.language.iso | tr | |
dc.publisher | Galenos Yayincilik | |
dc.relation.ispartof | Haseki Tip Bulteni-Medical Bulletin of Haseki | |
dc.relation.publicationcategory | info:eu-repo/semantics/openAccess | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.snmz | KA_WoS_20250125 | |
dc.subject | Fraser syndrome | |
dc.subject | cryptophthalmos | |
dc.subject | syndactyly | |
dc.subject | autopsy | |
dc.title | Fraser Syndrome: A Report of Two Cases | |
dc.title.alternative | Fraser sendromu: İki olgu bildirimi | |
dc.type | Article |