A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up
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=S0004-282X2007000300006 |
Resumo: | In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed. |
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A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-upcraniofacial anomaliesfacial cleftsocular hypertelorismfrontonasal dysplasiafrontonasal processfollow-upIn order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.Academia Brasileira de Neurologia - ABNEURO2007-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000300006Arquivos de Neuro-Psiquiatria v.65 n.2b 2007reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2007000300006info:eu-repo/semantics/openAccessGil-da-Silva-Lopes,Vera LúciaMaciel-Guerra,Andréa Trevaseng2007-07-24T00:00:00Zoai:scielo:S0004-282X2007000300006Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2007-07-24T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
title |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
spellingShingle |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up Gil-da-Silva-Lopes,Vera Lúcia craniofacial anomalies facial clefts ocular hypertelorism frontonasal dysplasia frontonasal process follow-up |
title_short |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
title_full |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
title_fullStr |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
title_full_unstemmed |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
title_sort |
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up |
author |
Gil-da-Silva-Lopes,Vera Lúcia |
author_facet |
Gil-da-Silva-Lopes,Vera Lúcia Maciel-Guerra,Andréa Trevas |
author_role |
author |
author2 |
Maciel-Guerra,Andréa Trevas |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Gil-da-Silva-Lopes,Vera Lúcia Maciel-Guerra,Andréa Trevas |
dc.subject.por.fl_str_mv |
craniofacial anomalies facial clefts ocular hypertelorism frontonasal dysplasia frontonasal process follow-up |
topic |
craniofacial anomalies facial clefts ocular hypertelorism frontonasal dysplasia frontonasal process follow-up |
description |
In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed. |
publishDate |
2007 |
dc.date.none.fl_str_mv |
2007-06-01 |
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=S0004-282X2007000300006 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000300006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X2007000300006 |
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.2b 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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