Schwartz-Jampel syndrome (chondrodystrophic myotonia).
AUTOR(ES)
Viljoen, D
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015825Documentos Relacionados
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