Abstract：
Schwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the \"perlecan\" molecule, one of the main proteoglycans of the basement membrane. A 6-year-old girl presented with short stature, a mask face, shrunken lips, narrow palpebral opening due to blepharospasm, stiffness of facial muscles, micrognathia, overlapping teeth, a short neck, and a bell-shaped thorax due to myotonic myopathy. She was diagnosed with SJS type-1 due to compound heterozygosity of two novel variations in the HSPG2 gene. In patients with short stature and an accompanying myotonic myopathy SJS should be considered. Compound heterozygosity may cause typical clinical findings of SJS. In case of suspicion creatinine kinase levels can be measured, and the determination of myotonia may require evaluation with electromyography. Once the diagnosis is made, patients should be carefully monitored in terms of growth, neuromuscular disorders, joints problems and bone health.
摘要：
Schwartz-Jampel综合征（SJS）1型（OMIM；＃255800），骨骼发育不良的罕见原因,以强直性肌病为特征，软骨营养不良,身材矮小,面部和眼睛异常。SJS1型是由于产生“perlecan”分子的HSPG2基因的变异而发展起来的，基底膜的主要蛋白聚糖之一。一个身材矮小的6岁女孩，一个面具的脸，嘴唇缩小，由于眼睑痉挛，眼睑开口狭窄，面部肌肉僵硬，小颌畸形,重叠的牙齿,短脖子,和由于肌强直性肌病引起的钟形胸部。由于HSPG2基因中两个新变异的复合杂合性，她被诊断为SJS1型。在身材矮小和伴有肌强直性肌病的患者中，应考虑SJS。复合杂合性可引起典型的SJS临床表现。如果怀疑肌酐激酶水平可以测量，肌强直的确定可能需要用肌电图进行评估。一旦做出诊断，应仔细监测患者的生长情况，神经肌肉疾病，关节问题和骨骼健康。
