| TEACHING IMAGES |
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| Year : 2016 | Volume
: 4
| Issue : 2 | Page : 290-291 |
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Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder
Bhaskara P Shelley1, US Vinayaka2
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
India
 Source of Support: None, Conflict of Interest: None  | Check |
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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