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Schwartz-Jampel syndrome (chondrodystrophic myotonia).
  1. D Viljoen,
  2. P Beighton
  1. Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.


    Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.

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