A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Detalhes bibliográficos
Autor(a) principal: Malheiros,José Augusto
Data de Publicação: 2007
Outros Autores: Camargos,Sarah Teixeira, Oliveira,José Teotonio de, Cardoso,Francisco E.C.
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=S0004-282X2007000100008
Resumo: We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.
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spelling A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritanceBrown-Vialetto-van Laere syndromeautosomal recessive inheritancehearing impairmentWe report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.Academia Brasileira de Neurologia - ABNEURO2007-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100008Arquivos de Neuro-Psiquiatria v.65 n.1 2007reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2007000100008info:eu-repo/semantics/openAccessMalheiros,José AugustoCamargos,Sarah TeixeiraOliveira,José Teotonio deCardoso,Francisco E.C.eng2007-03-21T00:00:00Zoai:scielo:S0004-282X2007000100008Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2007-03-21T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
title A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
spellingShingle A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
Malheiros,José Augusto
Brown-Vialetto-van Laere syndrome
autosomal recessive inheritance
hearing impairment
title_short A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
title_full A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
title_fullStr A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
title_full_unstemmed A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
title_sort A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
author Malheiros,José Augusto
author_facet Malheiros,José Augusto
Camargos,Sarah Teixeira
Oliveira,José Teotonio de
Cardoso,Francisco E.C.
author_role author
author2 Camargos,Sarah Teixeira
Oliveira,José Teotonio de
Cardoso,Francisco E.C.
author2_role author
author
author
dc.contributor.author.fl_str_mv Malheiros,José Augusto
Camargos,Sarah Teixeira
Oliveira,José Teotonio de
Cardoso,Francisco E.C.
dc.subject.por.fl_str_mv Brown-Vialetto-van Laere syndrome
autosomal recessive inheritance
hearing impairment
topic Brown-Vialetto-van Laere syndrome
autosomal recessive inheritance
hearing impairment
description We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.
publishDate 2007
dc.date.none.fl_str_mv 2007-03-01
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=S0004-282X2007000100008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2007000100008
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.65 n.1 2007
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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