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Unusual association of diseases/symptoms
Campomelic dysplasia and malignant hyperthermia
  1. Andreia Barros1,
  2. Filomena Teixeira2,
  3. Maria Carmo Camacho2,3,
  4. Cristina Alves3
  1. 1Department of Pediatrics, Hospital Nélio Mendonça, Funchal, Portugal
  2. 2Hospital Central Funchal, Funchal, Portugal
  3. 3Department of Pediatrics, Funchal Central Hospital, Funchal, Portugal
  1. Correspondence to Dr Andreia Barros, asofiabarros{at}gmail.com

Summary

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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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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