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. 1988 Feb;25(2):104–112. doi: 10.1136/jmg.25.2.104

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.

U G Froster-Iskenius 1, J R Waterson 1, J G Hall 1
PMCID: PMC1015451  PMID: 3346884

Abstract

Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital torticollis, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate. Malignant hyperthermia has occurred in two of the patients.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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