title: Schwartz-Jampel syndrome (chondrodystrophic myotonia).
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.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
authors.forename: D
authors.initials: D
authors.lastname: Viljoen
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D000328:Adult; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*