Schimke immuno-osseous dysplasia: case report and review of 25 patients

Detalhes bibliográficos
Autor(a) principal: Saraiva, JM
Data de Publicação: 1999
Outros Autores: Dinis, A, Resende, C, Faria, E, Gomes, C, Correia, AJ, Gil, J, Fonseca, N
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/1378
Resumo: Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.
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spelling Schimke immuno-osseous dysplasia: case report and review of 25 patientsOsteocondrodisplasiasCriançaImmuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.RIHUCSaraiva, JMDinis, AResende, CFaria, EGomes, CCorreia, AJGil, JFonseca, N2012-05-21T16:47:18Z19991999-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1378engJ Med Genet. 1999;36(10):786-9.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:22:39Zoai:rihuc.huc.min-saude.pt:10400.4/1378Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:03:53.770527Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Schimke immuno-osseous dysplasia: case report and review of 25 patients
title Schimke immuno-osseous dysplasia: case report and review of 25 patients
spellingShingle Schimke immuno-osseous dysplasia: case report and review of 25 patients
Saraiva, JM
Osteocondrodisplasias
Criança
title_short Schimke immuno-osseous dysplasia: case report and review of 25 patients
title_full Schimke immuno-osseous dysplasia: case report and review of 25 patients
title_fullStr Schimke immuno-osseous dysplasia: case report and review of 25 patients
title_full_unstemmed Schimke immuno-osseous dysplasia: case report and review of 25 patients
title_sort Schimke immuno-osseous dysplasia: case report and review of 25 patients
author Saraiva, JM
author_facet Saraiva, JM
Dinis, A
Resende, C
Faria, E
Gomes, C
Correia, AJ
Gil, J
Fonseca, N
author_role author
author2 Dinis, A
Resende, C
Faria, E
Gomes, C
Correia, AJ
Gil, J
Fonseca, N
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Saraiva, JM
Dinis, A
Resende, C
Faria, E
Gomes, C
Correia, AJ
Gil, J
Fonseca, N
dc.subject.por.fl_str_mv Osteocondrodisplasias
Criança
topic Osteocondrodisplasias
Criança
description Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.
publishDate 1999
dc.date.none.fl_str_mv 1999
1999-01-01T00:00:00Z
2012-05-21T16:47:18Z
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.uri.fl_str_mv http://hdl.handle.net/10400.4/1378
url http://hdl.handle.net/10400.4/1378
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Med Genet. 1999;36(10):786-9.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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