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BMJ Case Rep. 2011 Jun 9;2011. pii: bcr0420114112. doi: 10.1136/bcr.04.2011.4112.

Campomelic dysplasia and malignant hyperthermia.

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  • 1Department of Pediatrics, Hospital Nélio Mendonça, Funchal, Portugal. asofiabarros@gmail.com

Abstract

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.

PMID:
22691592
[PubMed - indexed for MEDLINE]
PMCID:
PMC3116224
Free PMC Article
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