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Year : 2016  |  Volume : 4  |  Issue : 2  |  Page : 290-291

Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder

1 Department of Neurology, Yenepoya Medical College, Mangalore, Karnataka, India
2 Department of Radiodiagnosis, Yenepoya Medical College, Mangalore, Karnataka, India

Correspondence Address:
Bhaskara P Shelley
Department of Neurology, Yenepoya Medical College, Mangalore - 575 018, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2321-4848.196183

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The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic awareness of chondrodystrophic myotonia or Schwartz–Jampel syndrome, a very rare genetic disorder. This autosomal recessive disorder due to mutations in the gene Perlecan leads to abnormal cartilage development and anomalous neuromuscular activity.

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