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...

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Bibliographic Details
Main Authors: V. M. Kenis, V. N. Komantsev, A. Yu. Dimitrieva, E. V. Melchenko, E. S. Morenko
Format: Article
Language:Russian
Published: ABV-press 2020-08-01
Series:Нервно-мышечные болезни
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/387