Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment
Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatm...
Main Authors: | , , , , |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2020-08-01
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Series: | Нервно-мышечные болезни |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/387 |