Stewart C R, Kahler S G, Gilchrist J M
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Pediatr Neurol. 1988 Nov-Dec;4(6):371-4. doi: 10.1016/0887-8994(88)90086-0.
Six children of similar ethnic origin with congenital myopathy, cleft palate, malignant hyperthermia (or susceptibility to malignant hyperthermia), and skeletal anomalies are presented. The findings are remarkably consistent among our patients, 3 of whom were related. This syndrome is likely to be inherited as an autosomal recessive trait. Children with this disorder are likely to undergo surgery with general anesthesia for facial or skeletal deformities and should be recognized as predisposed to developing malignant hyperthermia.
本文报告了6名具有相似种族背景的儿童，他们患有先天性肌病、腭裂、恶性高热（或恶性高热易感性）和骨骼异常。我们的患者之间的发现非常一致，其中3名患者有亲属关系。这种综合征可能作为常染色体隐性性状遗传。患有这种疾病的儿童可能会因面部或骨骼畸形接受全身麻醉手术，应被视为易发生恶性高热。
