Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia

Detalhes bibliográficos
Autor(a) principal: Barros, A.
Data de Publicação: 2011
Outros Autores: Teixeira, F., Camacho, M. C., Alves, C.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.26/30465
Resumo: Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.
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spelling Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermiacampomelic dysplasia (CD)humansInfantMalemalignant hyperthermianewbornPortugalMadeira IslandCampomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.BMJ Publishing GroupRepositório ComumBarros, A.Teixeira, F.Camacho, M. C.Alves, C.2019-12-12T14:33:20Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.26/30465engBMJ Case Reports 2011;10.1136/bcr.04.2011.4112info: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:RCAAP2023-11-10T02:16:32Zoai:comum.rcaap.pt:10400.26/30465Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:34:24.832592Repositório 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 Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
title Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
spellingShingle Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
Barros, A.
campomelic dysplasia (CD)
humans
Infant
Male
malignant hyperthermia
newborn
Portugal
Madeira Island
title_short Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
title_full Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
title_fullStr Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
title_full_unstemmed Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
title_sort Unusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermia
author Barros, A.
author_facet Barros, A.
Teixeira, F.
Camacho, M. C.
Alves, C.
author_role author
author2 Teixeira, F.
Camacho, M. C.
Alves, C.
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Comum
dc.contributor.author.fl_str_mv Barros, A.
Teixeira, F.
Camacho, M. C.
Alves, C.
dc.subject.por.fl_str_mv campomelic dysplasia (CD)
humans
Infant
Male
malignant hyperthermia
newborn
Portugal
Madeira Island
topic campomelic dysplasia (CD)
humans
Infant
Male
malignant hyperthermia
newborn
Portugal
Madeira Island
description Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.
publishDate 2011
dc.date.none.fl_str_mv 2011
2011-01-01T00:00:00Z
2019-12-12T14:33:20Z
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/10400.26/30465
url http://hdl.handle.net/10400.26/30465
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv BMJ Case Reports 2011;
10.1136/bcr.04.2011.4112
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.publisher.none.fl_str_mv BMJ Publishing Group
publisher.none.fl_str_mv BMJ Publishing Group
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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