Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias
Autor(a) principal: | |
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Data de Publicação: | 1998 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/25901 http://dx.doi.org/10.1590/S1415-47571998000200017 |
Resumo: | Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families. Specific diagnosis was confirmed in 16 cases. Nosologic diagnosis was done through clinical evaluation. However, the most efficient method for verifying the diagnosis was a skeletal radiological study. This fact corroborates the orientation of the International Classification of Osteochondrodysplasias (International Working Group on Constitutional Disease of Bone, 1992) in which a radiological criterion was adopted as the most relevant for classification of osteochondrodysplasias. An anatomopathological study was also done to detect internal anomalies, and was effective in identifying abnormalities in epiphyseal growth plate in a bone fragment study. This method had low specificity, but in two cases it was especially decisive for diagnostic differentiation. |
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Galera, Marcial Francis [UNIFESP]Patricio, Francy Reis da S [UNIFESP]Cernach, Mirlene Cecília S Pinho [UNIFESP]Lederman, Henrique Manoel [UNIFESP]Brunoni, Decio [UNIFESP]Universidade Federal de São Paulo (UNIFESP)2016-01-24T12:30:35Z2016-01-24T12:30:35Z1998-06-01Genetics and Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 21, n. 2, p. 267-272, 1998.1415-4757http://repositorio.unifesp.br/handle/11600/25901http://dx.doi.org/10.1590/S1415-47571998000200017S1415-4757199800020001710.1590/S1415-47571998000200017WOS:000075463600017Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families. Specific diagnosis was confirmed in 16 cases. Nosologic diagnosis was done through clinical evaluation. However, the most efficient method for verifying the diagnosis was a skeletal radiological study. This fact corroborates the orientation of the International Classification of Osteochondrodysplasias (International Working Group on Constitutional Disease of Bone, 1992) in which a radiological criterion was adopted as the most relevant for classification of osteochondrodysplasias. An anatomopathological study was also done to detect internal anomalies, and was effective in identifying abnormalities in epiphyseal growth plate in a bone fragment study. This method had low specificity, but in two cases it was especially decisive for diagnostic differentiation.Universidade Federal de São Paulo, Dept Morfol, Disciplina Genet, BR-04023062 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Morfol, Disciplina Genet, BR-04023062 São Paulo, BrazilWeb of Science267-272engSoc Brasil GeneticaGenetics and Molecular BiologyClinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasiasinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/259012022-06-02 09:02:13.692metadata only accessoai:repositorio.unifesp.br:11600/25901Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:13:22.935120Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
title |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
spellingShingle |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias Galera, Marcial Francis [UNIFESP] |
title_short |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
title_full |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
title_fullStr |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
title_full_unstemmed |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
title_sort |
Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias |
author |
Galera, Marcial Francis [UNIFESP] |
author_facet |
Galera, Marcial Francis [UNIFESP] Patricio, Francy Reis da S [UNIFESP] Cernach, Mirlene Cecília S Pinho [UNIFESP] Lederman, Henrique Manoel [UNIFESP] Brunoni, Decio [UNIFESP] |
author_role |
author |
author2 |
Patricio, Francy Reis da S [UNIFESP] Cernach, Mirlene Cecília S Pinho [UNIFESP] Lederman, Henrique Manoel [UNIFESP] Brunoni, Decio [UNIFESP] |
author2_role |
author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Galera, Marcial Francis [UNIFESP] Patricio, Francy Reis da S [UNIFESP] Cernach, Mirlene Cecília S Pinho [UNIFESP] Lederman, Henrique Manoel [UNIFESP] Brunoni, Decio [UNIFESP] |
description |
Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families. Specific diagnosis was confirmed in 16 cases. Nosologic diagnosis was done through clinical evaluation. However, the most efficient method for verifying the diagnosis was a skeletal radiological study. This fact corroborates the orientation of the International Classification of Osteochondrodysplasias (International Working Group on Constitutional Disease of Bone, 1992) in which a radiological criterion was adopted as the most relevant for classification of osteochondrodysplasias. An anatomopathological study was also done to detect internal anomalies, and was effective in identifying abnormalities in epiphyseal growth plate in a bone fragment study. This method had low specificity, but in two cases it was especially decisive for diagnostic differentiation. |
publishDate |
1998 |
dc.date.issued.fl_str_mv |
1998-06-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T12:30:35Z |
dc.date.available.fl_str_mv |
2016-01-24T12:30:35Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Genetics and Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 21, n. 2, p. 267-272, 1998. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/25901 http://dx.doi.org/10.1590/S1415-47571998000200017 |
dc.identifier.issn.none.fl_str_mv |
1415-4757 |
dc.identifier.scielo.none.fl_str_mv |
S1415-47571998000200017 |
dc.identifier.doi.none.fl_str_mv |
10.1590/S1415-47571998000200017 |
dc.identifier.wos.none.fl_str_mv |
WOS:000075463600017 |
identifier_str_mv |
Genetics and Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 21, n. 2, p. 267-272, 1998. 1415-4757 S1415-47571998000200017 10.1590/S1415-47571998000200017 WOS:000075463600017 |
url |
http://repositorio.unifesp.br/handle/11600/25901 http://dx.doi.org/10.1590/S1415-47571998000200017 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Genetics and Molecular Biology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
267-272 |
dc.publisher.none.fl_str_mv |
Soc Brasil Genetica |
publisher.none.fl_str_mv |
Soc Brasil Genetica |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1783460264233926656 |