eng Science and Education Publishing American Journal of Medical Case Reports 2374-216X 2020-06-16 8 10 325 327 10.12691/ajmcr-8-10-1 AJMCR20208101 article Andrew Wahba Andrew.A.Wahba@uth.tmc.edu 1 Rafik ElBeblawy 2 Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center Houston,TX University of Louisville, School of Medicine, Louisville, KY Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive hereditary disorder characterized by the triad of myotonia, facial dysmorphisms, and skeletal deformities. Less than 150 cases have been reported in the medical literature. SJS is caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2) located on chromosome 1p34-36.1 which encodes perlecan, a major component of basement membranes. Here we report three novel mutations in a 6-year-old girl. http://pubs.sciepub.com/ajmcr/8/10/1/ajmcr-8-10-1.pdf Schwartz-Jampel syndrome heparan sulfate proteoglycan 2 HSPG2 myotonia