A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Outros Autores: | , , |
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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Arquivos de neuro-psiquiatria (Online) |
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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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1754212761188958208 |