Schwartz-jampel syndrome; case report Schwartz-jampel syndrome


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BALAL M. , Demir T. , Koc F.

JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE, cilt.9, ss.168-170, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 9 Konu: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4328/jcam.5515
  • Dergi Adı: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Sayfa Sayısı: ss.168-170

Özet

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.