一种与恶性高热相关的先天性挛缩和斜颈的隐性形式。

Froster-Iskenius U G, Waterson J R, Hall J G

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

J Med Genet. 1988 Feb;25(2):104-12. doi: 10.1136/jmg.25.2.104.

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.

本文报告了两个家系，每个家系中有两名患病同胞，这四名患者似乎都患有一种新发现的特殊类型的先天性挛缩（关节弯曲）。患病个体有先天性斜颈、畸形、不对称、肌病性面部特征以及进行性脊柱侧弯。两名同胞患有腭裂。两名患者发生了恶性高热。