Schwartz-Jampel syndrome (chondrodystrophic myotonia).
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1552548.
- Also identified by PMC identifier 1015825.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Osteochondrodysplasias