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) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4328/jcam.5515
  • Dergi Adı: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE
  • Sayfa Sayıları: ss.168-170
  • Çukurova Üniversitesi Adresli: Evet

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.