Do you know this syndrome?

Detalhes bibliográficos
Autor(a) principal: Kondo,Rogerio Nabor
Data de Publicação: 2013
Outros Autores: Martins,Ligia Márcia Mario, Lopes,Vivian Cristina Holanda, Bittar,Rodrigo Antonio, Araújo,Fernanda Mendes
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000400664
Resumo: Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.
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spelling Do you know this syndrome?GeneticsHeart defects, CongenitalNoonan syndromeStature by ageTurner syndromeNoonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.Sociedade Brasileira de Dermatologia2013-08-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000400664Anais Brasileiros de Dermatologia v.88 n.4 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20131934info:eu-repo/semantics/openAccessKondo,Rogerio NaborMartins,Ligia Márcia MarioLopes,Vivian Cristina HolandaBittar,Rodrigo AntonioAraújo,Fernanda Mendeseng2015-10-19T00:00:00Zoai:scielo:S0365-05962013000400664Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2015-10-19T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Do you know this syndrome?
title Do you know this syndrome?
spellingShingle Do you know this syndrome?
Kondo,Rogerio Nabor
Genetics
Heart defects, Congenital
Noonan syndrome
Stature by age
Turner syndrome
title_short Do you know this syndrome?
title_full Do you know this syndrome?
title_fullStr Do you know this syndrome?
title_full_unstemmed Do you know this syndrome?
title_sort Do you know this syndrome?
author Kondo,Rogerio Nabor
author_facet Kondo,Rogerio Nabor
Martins,Ligia Márcia Mario
Lopes,Vivian Cristina Holanda
Bittar,Rodrigo Antonio
Araújo,Fernanda Mendes
author_role author
author2 Martins,Ligia Márcia Mario
Lopes,Vivian Cristina Holanda
Bittar,Rodrigo Antonio
Araújo,Fernanda Mendes
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Kondo,Rogerio Nabor
Martins,Ligia Márcia Mario
Lopes,Vivian Cristina Holanda
Bittar,Rodrigo Antonio
Araújo,Fernanda Mendes
dc.subject.por.fl_str_mv Genetics
Heart defects, Congenital
Noonan syndrome
Stature by age
Turner syndrome
topic Genetics
Heart defects, Congenital
Noonan syndrome
Stature by age
Turner syndrome
description Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.
publishDate 2013
dc.date.none.fl_str_mv 2013-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000400664
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000400664
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20131934
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 Dermatologia
publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
dc.source.none.fl_str_mv Anais Brasileiros de Dermatologia v.88 n.4 2013
reponame:Anais brasileiros de dermatologia (Online)
instname:Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
instname_str Sociedade Brasileira de Dermatologia (SBD)
instacron_str SBD
institution SBD
reponame_str Anais brasileiros de dermatologia (Online)
collection Anais brasileiros de dermatologia (Online)
repository.name.fl_str_mv Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)
repository.mail.fl_str_mv abd@sbd.org.br||revista@sbd.org.br
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