Abstract
Schwartz-Jampel Syndrome is a rare disease that is characterized with skeletal deformities, joint contractures, and dysmorphic facial appearance. Most patients become
symptomatic within the first decades of life. The diagnosis is based on clinical findings. Movement limitation of joints, delay in starting to walk, and walking with support
are common preliminary findings. The disease is caused by the mutation in heparan sulfate proteoglycan 2 (HSPC2) gene which encodes perlecan protein. Herein we
report a case of Schwartz-Jampel syndrome with the age of 18.
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How to Cite This Article
Mehmet Balal, Turgay Demir, Filiz Koc. Schwartz-Jampel syndrome; A Case Report. J Clin Anal Med 2018;9(2):168-170. doi:10.4328/JCAM.5515
Publication History
- Received:
- 15.11.2017
- Accepted:
- 29.12.2017
- Published Online:
- 03.01.2018
- Printed:
- 01.03.2018