Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case

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dc.contributor.authorGuvenc, Osman
dc.contributor.authorUygun, Saime Sundus
dc.contributor.authorCimen, Derya
dc.contributor.authorAslan, Eyup
dc.contributor.authorAnnagur, Ali
dc.date.accessioned2020-03-26T19:24:34Z
dc.date.available2020-03-26T19:24:34Z
dc.date.issued2016
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractJeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM.en_US
dc.identifier.doi10.5543/tkda.2015.29677en_US
dc.identifier.endpage506en_US
dc.identifier.issn1016-5169en_US
dc.identifier.issue6en_US
dc.identifier.pmid27665332en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage503en_US
dc.identifier.urihttps://dx.doi.org/10.5543/tkda.2015.29677
dc.identifier.urihttps://hdl.handle.net/20.500.12395/33681
dc.identifier.volume44en_US
dc.identifier.wosWOS:000392631500007en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTURKISH SOC CARDIOLOGYen_US
dc.relation.ispartofTURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAsphyxiating thoracic dysplasiaen_US
dc.subjectcardiac abnormalityen_US
dc.subjecthypertrophic cardiomyopathyen_US
dc.subjectJeune syndromeen_US
dc.subjectnewbornen_US
dc.titleHypertrophic cardiomyopathy with Jeune syndrome: The first reported caseen_US
dc.typeArticleen_US

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