Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Detalhes bibliográficos
Autor(a) principal: Li,Jinrong
Data de Publicação: 2021
Outros Autores: Zhu,Tao, Yang,Sufei, Yang,Fan, Wu,Jinhui, Xiong,Fei
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Cardiovascular Surgery (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700
Resumo: Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.
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spelling Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational PresentationGrowth mental deficiency syndrome of MyhreMarfan SyndromeHypertensionPulmonaryGrowth DisordersDiagnostic ErrorsAbstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.Sociedade Brasileira de Cirurgia Cardiovascular2021-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700Brazilian Journal of Cardiovascular Surgery v.36 n.5 2021reponame:Brazilian Journal of Cardiovascular Surgery (Online)instname:Sociedade Brasileira de Cirurgia Cardiovascular (SBCCV)instacron:SBCCV10.21470/1678-9741-2020-0592info:eu-repo/semantics/openAccessLi,JinrongZhu,TaoYang,SufeiYang,FanWu,JinhuiXiong,Feieng2021-11-11T00:00:00Zoai:scielo:S0102-76382021000500700Revistahttp://www.rbccv.org.br/https://old.scielo.br/oai/scielo-oai.php||rosangela.monteiro@incor.usp.br|| domingo@braile.com.br|| brandau@braile.com.br1678-97410102-7638opendoar:2021-11-11T00:00Brazilian Journal of Cardiovascular Surgery (Online) - Sociedade Brasileira de Cirurgia Cardiovascular (SBCCV)false
dc.title.none.fl_str_mv Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
title Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
spellingShingle Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
Li,Jinrong
Growth mental deficiency syndrome of Myhre
Marfan Syndrome
Hypertension
Pulmonary
Growth Disorders
Diagnostic Errors
title_short Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
title_full Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
title_fullStr Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
title_full_unstemmed Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
title_sort Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
author Li,Jinrong
author_facet Li,Jinrong
Zhu,Tao
Yang,Sufei
Yang,Fan
Wu,Jinhui
Xiong,Fei
author_role author
author2 Zhu,Tao
Yang,Sufei
Yang,Fan
Wu,Jinhui
Xiong,Fei
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Li,Jinrong
Zhu,Tao
Yang,Sufei
Yang,Fan
Wu,Jinhui
Xiong,Fei
dc.subject.por.fl_str_mv Growth mental deficiency syndrome of Myhre
Marfan Syndrome
Hypertension
Pulmonary
Growth Disorders
Diagnostic Errors
topic Growth mental deficiency syndrome of Myhre
Marfan Syndrome
Hypertension
Pulmonary
Growth Disorders
Diagnostic Errors
description Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.
publishDate 2021
dc.date.none.fl_str_mv 2021-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.21470/1678-9741-2020-0592
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Cirurgia Cardiovascular
publisher.none.fl_str_mv Sociedade Brasileira de Cirurgia Cardiovascular
dc.source.none.fl_str_mv Brazilian Journal of Cardiovascular Surgery v.36 n.5 2021
reponame:Brazilian Journal of Cardiovascular Surgery (Online)
instname:Sociedade Brasileira de Cirurgia Cardiovascular (SBCCV)
instacron:SBCCV
instname_str Sociedade Brasileira de Cirurgia Cardiovascular (SBCCV)
instacron_str SBCCV
institution SBCCV
reponame_str Brazilian Journal of Cardiovascular Surgery (Online)
collection Brazilian Journal of Cardiovascular Surgery (Online)
repository.name.fl_str_mv Brazilian Journal of Cardiovascular Surgery (Online) - Sociedade Brasileira de Cirurgia Cardiovascular (SBCCV)
repository.mail.fl_str_mv ||rosangela.monteiro@incor.usp.br|| domingo@braile.com.br|| brandau@braile.com.br
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