A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.
نویسندگان
چکیده
Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital torticollis, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate. Malignant hyperthermia has occurred in two of the patients.
منابع مشابه
Schwartz-Jampel syndrome (chondrodystrophic myotonia).
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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 25 2 شماره
صفحات -
تاریخ انتشار 1988