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Schwartz-Jampel syndrome presents with joint contractures, myotonia, skeletal anomalies, facial dysmorphism, and a potentially lethal risk of malignant hyperthermia during anesthesia.
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Requires malignant hyperthermia precautions in Schwartz-Jampel syndrome; literature review leaves open precise risk quantification.
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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Viljoen et al. (1992) studied this question. Schwartz-Jampel syndrome presents with joint contractures, myotonia, skeletal anomalies, facial dysmorphism, and a potentially lethal risk of malignant hyperthermia during anesthesia.
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