Vanlieferighen P, Francannet C, Dechelotte P, Malpuech G, de Laguillaumie B, Storme B
Service de Pédiatrie B et Génétique Médicale, Hôtel-Dieu, Clermont-Ferrand.
J Genet Hum. 1987 Aug;35(4):243-9.
The authors report a case of Schwartz-Jampel syndrome (osteo-chondro muscular dystrophy with myotonia). The diagnosis was made when the child was 3 1/2 year old. Then, there were no clinical symptoms; however, the electromyographic and histologic patterns of the disease were found. Two years later, the clinical status provided confirmation of the diagnosis. The discussion focuses on the difficulty of the diagnosis and the relevance of electrophysiological studies and muscular biopsy in order to distinguish this disease from others with similar clinical pattern (as Freeman-Sheldon, or Marden Walker syndromes).
作者报告了一例施瓦茨-扬佩尔综合征（伴有肌强直的骨软骨性肌营养不良）。该诊断是在患儿3岁半时做出的。当时尚无临床症状；然而，发现了该病的肌电图和组织学特征。两年后，临床状况证实了诊断。讨论聚焦于诊断的困难以及电生理研究和肌肉活检对于将本病与具有相似临床模式的其他疾病（如弗里曼-谢尔顿综合征或马登-沃克综合征）相鉴别的相关性。
