Greig cephalopolysyndactyly syndrome: A case report

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dc.contributor.authorKaraman, Ali
dc.contributor.authorKahveci, Hasan
dc.contributor.authorLaloğlu, Fuat
dc.date.accessioned2020-05-07T07:14:52Z
dc.date.available2020-05-07T07:14:52Z
dc.date.issued2011-02-23
dc.description.abstractIntroduction: The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. Case Report: The patient had high forehead, frontal bossing, macrocephaly, apparent hypertelorism, down-slanting palpebral fissures and a broad nasal root. The feet showed bilateral polydactyly with cutaneous syndactyly of the fifth digits. Conclusion: GCPS is a rare condition with an autosomal dominant mode of inheritance. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. Presented here is a case of a 1 week old female with typical clinical manifestations of GCPS.en_US
dc.description.abstractGiriş: Greig sefalopolisindaktili sendromu (GCPS), çoklu konjenital anomalili bir pleiotropik sendromdur. Olgu Sunumu: Hasta yüksek alın, frontal şişlik, makrosefali, belirgin hipertelorizm, aşağı eğik palpebral fissürler ve geniş bir burun köküne sahipti. Ayakları bilateral kutanöz sindaktilili polidaktili gösterdi. Tartışma: GCPS otozomal dominant genetik modelli nadir bir durumdur. Primer bulguları, hipertelorizm, frontal şişliği olan makrosefali ve polisindaktiliyi içerir. Burada, GCPS’nin tipik klinik bulguları ile 1 haftalık kız bir olgu sunuldu.tr_TR
dc.identifier.citationKaraman, A. vd. (2011). "Greig cephalopolysyndactyly syndrome: A case report". Güncel Pediatri, 9(1), 47-49.tr_TR
dc.identifier.endpage49tr_TR
dc.identifier.issn1304-9054
dc.identifier.issn1308-6308
dc.identifier.issue1tr_TR
dc.identifier.startpage47tr_TR
dc.identifier.urihttps://dergipark.org.tr/tr/download/article-file/904908
dc.identifier.urihttp://hdl.handle.net/11452/10569
dc.identifier.volume9tr_TR
dc.language.isotrtr_TR
dc.publisherUludağ Üniversitesitr_TR
dc.relation.journalGüncel Pediatri / The Journal of Current Pediatricstr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGreig cephalopolysyndactyly syndromeen_US
dc.subjectMacrocephalyen_US
dc.subjectPolysyndactylyen_US
dc.subjectGreig sefalopolisindaktili sendromutr_TR
dc.subjectMakrosefalitr_TR
dc.subjectPolisindaktilitr_TR
dc.titleGreig cephalopolysyndactyly syndrome: A case reporten_US
dc.title.alternativeGreig sefalopolisindaktili sendromu: Bir olgu sunumutr_TR
dc.typeArticleen_US

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2011 Cilt 9 Sayı 1