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Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication

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dc.creatorOlivella, Albertospa
dc.creatorManotas, Hernanspa
dc.creatorPayan-Gomez, Cesar
dc.creatorPiñeros, Juan Gabrielspa
dc.date.accessioned2020-08-19T14:42:42Z
dc.date.available2020-08-19T14:42:42Z
dc.date.created2020-06-01spa
dc.description.abstractEbstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention was not needed.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttp://dx.doi.org/10.1136/bcr-2019-233766
dc.identifier.issnEISSN: 1757-790X
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/27554
dc.language.isoengspa
dc.publisherBMJ Publishingspa
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage233766
dc.relation.citationTitleBMJ Case Reports
dc.relation.citationVolumeVol. 13
dc.relation.ispartofBMJ Case Reports, EISSN: 1757-790X, Vol.13, No.6 (Jun 2020); pp. 233766spa
dc.relation.urihttps://casereports.bmj.com/content/13/6/e233766.longspa
dc.rights.accesRightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.accesoRestringido (Acceso a grupos específicos)spa
dc.sourceBMJ Case Reportsspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordCongenital disordersspa
dc.subject.keywordGenetic screening / counsellingspa
dc.subject.keywordGeneticsspa
dc.subject.keywordNeonatal intensive carespa
dc.titleEbstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplicationspa
dc.title.TranslatedTitleAnomalía de Ebstein asociada con síndrome de cri du chat (llanto de gato) y duplicación 20qspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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