UNUSUAL PRESENTATION OF BILIARY ATRESIA SPLENIC MALFORMATION SYNDROME WITH AUTOSOMAL DOMINANT HYPOSPADIAS

Basit Öğe Kaydı
dc.contributor.authorTumgor, G.
dc.contributor.authorCogulu, O.
dc.contributor.authorOnay, H.
dc.contributor.authorEkmekci, A. Y.
dc.contributor.authorAydogdu, S.
dc.contributor.authorDurmaz, B.
dc.contributor.authorKilic, M.
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T21:27:13Z
dc.date.available2019-10-27T21:27:13Z
dc.date.issued2011
dc.departmentEge Üniversitesien_US
dc.description.abstractUnusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hspospadias: Biliary atresia is associated with polysplenia in 2-10% of cases and is defined as Biliary Atresia Splenic Malformation syndrome (BASM). The main features of BASM syndrome include extrahepatic biliary atresia and polysplenia besides the characteristic findings of laterality anomalies, cardiac anomalies, intraabdominal vascular anomalies, pancreatic anomalies and malrotation. Here we present a 6-month-old male patient with BASM having atrial septal defect, umblical hernia, inguinal hernia, and hypospadias. Clinical history revealed that his father also had hypospadias which showed a rare form of autosomal dominant inheritance. The karyotype was normal and the molecular analysis of CFCI gene revealed no mutation. We emphasize the importance or a detailed physical examination in cases with BASM.en_US
dc.identifier.endpage351en_US
dc.identifier.issn1015-8146
dc.identifier.issue4en_US
dc.identifier.pmid22303794en_US
dc.identifier.startpage347en_US
dc.identifier.urihttps://hdl.handle.net/11454/45054
dc.identifier.volume22en_US
dc.identifier.wosWOS:000299356300003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBiliary Atresia Splenic Malformation syndromeen_US
dc.subjectAutosomal dominant inheritanceen_US
dc.subjectHypospadiasen_US
dc.titleUNUSUAL PRESENTATION OF BILIARY ATRESIA SPLENIC MALFORMATION SYNDROME WITH AUTOSOMAL DOMINANT HYPOSPADIASen_US
dc.typeArticleen_US

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