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dc.contributor.authorKilit, Celal
dc.contributor.authorPaşalı Kilit, Türkan
dc.date.accessioned2019-08-06T12:13:03Z
dc.date.available2019-08-06T12:13:03Z
dc.date.issued2019en_US
dc.identifier.citationKilit, C., & Kilit, T. P. (2019). Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?. Arquivos brasileiros de cardiologia, 112(5), 594-596.en_US
dc.identifier.urihttps://dx.doi.org/10.5935/abc.20190033
dc.identifier.urihttps://hdl.handle.net/20.500.12438/2371
dc.description.abstractCraniofrontonasal syndrome (CFNS; OMIM# 304110) is one of the craniofacial conditions that fall into the group called Craniofacial Dysostosis syndromes. Alternative names are Craniofrontonasal Dysplasia and Craniofrontonasal Dysostosis. CFNS is a rare X-linked disorder caused by mutations in the ephrin-B1 gene (EFNB1).1 CFNS predominantly affects the head, face and limbs and characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, down slant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton.1 Phenotypic expression varies greatly amongst affected individuals. Paradoxical to other X-linked conditions, CFNS generally affects females more frequently and more severely than males.1,2 Cellular or metabolic interference due to X inactivation explains this situation. There is no accurate measurement of its birth frequency and the incidence values that were reported ranged from 1:100,000 to 1:120,000. CFNS is not diagnosed in males unless they are a member of a family known to have the condition or the father of a daughter with the condition. In females, physical characteristics play a supportive role in establishing the diagnosis but the diagnosis CFNS is determined by the presence of a mutation in the EFNB1 gene.en_US
dc.language.isoengen_US
dc.publisherScieloen_US
dc.relation.isversionof10.5935/abc.20190033en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subjectWolff-Parkinson White Syndromeen_US
dc.subjectCraniofacial Abnormalitiesen_US
dc.subjectComparative Studiesen_US
dc.subjectCraniofacial Dysostoseen_US
dc.subjectTachycardiaen_US
dc.subjectSupraventricularen_US
dc.titleReport of a family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a new finding?en_US
dc.typearticleen_US
dc.relation.journalArquivos Brasileiros de Cardiologiaen_US
dc.departmentBölüm Yoken_US
dc.contributor.authorIDhttps://orcid.org/0000-0003-3787-0619en_US
dc.contributor.authorIDhttps://orcid.org/0000-0003-1126-7336en_US
dc.identifier.volume112en_US
dc.identifier.issue5en_US
dc.identifier.startpage594en_US
dc.identifier.endpage596en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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