Related Experiment Videos
Schwartz-Jampel syndrome (chondrodystrophic myotonia)
1Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
Journal of Medical Genetics
|January 1, 1992
Abstract:
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.