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

2011Journal article Open access
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dc.contributor.authorBarros, A.
dc.contributor.authorTeixeira, F.
dc.contributor.authorCamacho, M. C.
dc.contributor.authorAlves, C.
dc.date.accessioned2019-12-12T14:33:20Z
dc.date.available2019-12-12T14:33:20Z
dc.date.issued2011
dc.description.abstractCampomelic 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBMJ Case Reports 2011;pt_PT
dc.identifier.doi10.1136/bcr.04.2011.4112pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/30465
dc.language.isoengpt_PT
dc.publisherBMJ Publishing Grouppt_PT
dc.subjectcampomelic dysplasia (CD)pt_PT
dc.subjecthumanspt_PT
dc.subjectInfantpt_PT
dc.subjectMalept_PT
dc.subjectmalignant hyperthermiapt_PT
dc.subjectnewbornpt_PT
dc.subjectPortugalpt_PT
dc.subjectMadeira Islandpt_PT
dc.titleUnusual association of diseases/symptoms - Campomelic dysplasia and malignant hyperthermiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPagebcr0420114112pt_PT
oaire.citation.issuejun09 1pt_PT
oaire.citation.startPagebcr0420114112pt_PT
oaire.citation.titleCase Reportspt_PT
oaire.citation.volume2011pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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