Meckel Gruber syndrome: A case report with review of literature

Basit Öğe Kaydı
dc.contributor.authorUygun, Saime Sundus
dc.contributor.authorSivri, Mesut
dc.contributor.authorTopsakal, Ahmet
dc.contributor.authorDikener, Ahmet Hakan
dc.contributor.authorSoylu, Hanifi
dc.contributor.authorAnnagur, Ali
dc.date.accessioned2020-03-26T19:42:04Z
dc.date.available2020-03-26T19:42:04Z
dc.date.issued2017
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractMeckel-Gruber syndrome, which is firstly described by Friedrich Meckel and Georg B. Gruber, is an autosomal recessive disorder that is characterized triad of occipital encephalocele, bilateral renal dysplasia and polydactyly. Because of the genetic heterogeneity, multiple organs can be affected. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. We have reported a male baby born at 37-week gestation, who has occipital encephalocele, polydactyly and cystic dysplasia of both kidneys. As a result of these clinical findings, Meckel-Gruber Syndrome is suspected for his baby. This study is presented to draw attention to the Meckel Gruber Syndrome which has high risk of recurrence and early diagnosis by ultrasonographic screening can be confident.en_US
dc.identifier.doi10.29333/ejgm/81741en_US
dc.identifier.endpage110en_US
dc.identifier.issn1304-3889en_US
dc.identifier.issn1304-3897en_US
dc.identifier.issue4en_US
dc.identifier.pmid#YOKen_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage108en_US
dc.identifier.urihttps://dx.doi.org/10.29333/ejgm/81741
dc.identifier.urihttps://hdl.handle.net/20.500.12395/35285
dc.identifier.volume14en_US
dc.identifier.wosWOS:000419686600005en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherMODESTUM LTDen_US
dc.relation.ispartofEUROPEAN JOURNAL OF GENERAL MEDICINEen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectmeckel gruber syndromeen_US
dc.subjectencephaloceleen_US
dc.subjectrenal dysplasiaen_US
dc.subjectpolydactylyen_US
dc.titleMeckel Gruber syndrome: A case report with review of literatureen_US
dc.typeReviewen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu