Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

Detalhes bibliográficos
Autor(a) principal: Carvalho,Daniel R.
Data de Publicação: 2006
Outros Autores: Trad,Clovis S., Pina-Neto,João M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024
Resumo: Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.
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spelling Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosisXXY karyotypePrader-Willi syndromeKlinefelter syndromecraniosynostosisPrader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.Academia Brasileira de Neurologia - ABNEURO2006-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024Arquivos de Neuro-Psiquiatria v.64 n.2a 2006reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2006000200024info:eu-repo/semantics/openAccessCarvalho,Daniel R.Trad,Clovis S.Pina-Neto,João M.eng2006-06-07T00:00:00Zoai:scielo:S0004-282X2006000200024Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2006-06-07T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
title Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
spellingShingle Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
Carvalho,Daniel R.
XXY karyotype
Prader-Willi syndrome
Klinefelter syndrome
craniosynostosis
title_short Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
title_full Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
title_fullStr Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
title_full_unstemmed Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
title_sort Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
author Carvalho,Daniel R.
author_facet Carvalho,Daniel R.
Trad,Clovis S.
Pina-Neto,João M.
author_role author
author2 Trad,Clovis S.
Pina-Neto,João M.
author2_role author
author
dc.contributor.author.fl_str_mv Carvalho,Daniel R.
Trad,Clovis S.
Pina-Neto,João M.
dc.subject.por.fl_str_mv XXY karyotype
Prader-Willi syndrome
Klinefelter syndrome
craniosynostosis
topic XXY karyotype
Prader-Willi syndrome
Klinefelter syndrome
craniosynostosis
description Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.
publishDate 2006
dc.date.none.fl_str_mv 2006-06-01
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=S0004-282X2006000200024
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2006000200024
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 Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.64 n.2a 2006
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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