[施瓦茨-扬佩尔综合征。两例报告及文献复习（作者译）]
[Schwartz-Jampel syndrome. Report of two cases and review of the literature (author's transl)].
作者信息
Plasencia A, Alpera R, Borrajo E, Fernández C I, Martínez-Huguet F
出版信息
An Esp Pediatr. 1980 Nov;13(11):1031-42.
PMID:7212465
Abstract
Two cases of Schwartz-Jampel syndrome are reported in addition to the 30 described previously. Authors present a study on the incidence of different signs and symptoms in all cases reviewed by them and on the radiological, biochemical, electromyographic, immunological and pathologic findings of all these cases concluding that the definitive data, present in all of them, is the association of facial dysmorphia, osteomuscular dystrophy and a muscular syndrome of myotonic aspect.
摘要
除了之前报道的30例病例外，又报告了2例施瓦茨 - 扬佩尔综合征病例。作者对他们所回顾的所有病例中不同体征和症状的发生率，以及所有这些病例的放射学、生化、肌电图、免疫学和病理学检查结果进行了研究，得出结论：所有病例中都存在的决定性数据是面部畸形、骨肌肉营养不良和肌强直样肌肉综合征之间的关联。
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