施瓦茨-扬佩尔综合征（软骨发育不良性肌强直）。
Schwartz-Jampel syndrome (chondrodystrophic myotonia).
作者信息
Viljoen D, Beighton P
机构信息
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
出版信息
J Med Genet. 1992 Jan;29(1):58-62. doi: 10.1136/jmg.29.1.58.
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.
摘要
施瓦茨-扬佩尔综合征是一种罕见的常染色体隐性疾病。关节挛缩、全身性肌强直、骨骼异常和面部畸形是其常见特征；恶性高热是麻醉期间一种潜在的致命并发症。
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