Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias

Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias

Autor Galera, Marcial Francis Autor UNIFESP Google Scholar
Patricio, Francy Reis da S Autor UNIFESP Google Scholar
Cernach, Mirlene Cecília S Pinho Autor UNIFESP Google Scholar
Lederman, Henrique Manoel Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
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.
Idioma Inglês
Data de publicação 1998-06-01
Publicado em Genetics and Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 21, n. 2, p. 267-272, 1998.
ISSN 1415-4757 (Sherpa/Romeo, fator de impacto)
Publicador Soc Brasil Genetica
Extensão 267-272
Fonte http://dx.doi.org/10.1590/S1415-47571998000200017
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000075463600017
SciELO S1415-47571998000200017 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/25901

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