Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment
https://doi.org/10.17650/2222-8721-2020-10-2-53-59
Abstract
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 treatment of the lower limbs deformities are discussed. Importance of this study comprises unique description of rare cases. Surgical treatment for orthopaedic conditions is important and can lead to functional improvement, prevent progression of deformities and enhance daily activity.
About the Authors
V. M. Kenis
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of Russia;
North-Western State Medical University named after I.I. Mechnikov, Ministry of Health of Russia
Russian Federation
Russian Federation
64/68 Parkovaya St., Pushkin, Saint-Petersburg 196603,
41 Kirochnaya St., Saint-Petersburg 191015
V. N. Komantsev
Saint-Petersburg Institute for the Advancement of Medical Experts, Ministry of Labor of Russia
Russian Federation
Russian Federation
11/12 Bolshoy Sampsonievsky Prospect, Saint-Petersburg 194044
A. Yu. Dimitrieva
North-Western State Medical University named after I.I. Mechnikov, Ministry of Health of Russia
Russian Federation
Russian Federation
41 Kirochnaya St., Saint-Petersburg 191015
E. V. Melchenko
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of Russia
Russian Federation
Russian Federation
64/68 Parkovaya St., Pushkin, Saint-Petersburg 196603
E. S. Morenko
H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of Russia
Russian Federation
Russian Federation
64/68 Parkovaya St., Pushkin, Saint-Petersburg 196603
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Review
For citations:
Kenis V.M., Komantsev V.N., Dimitrieva A.Yu., Melchenko E.V., Morenko E.S. Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment. Neuromuscular Diseases. 2020;10(2):53-59. (In Russ.) https://doi.org/10.17650/2222-8721-2020-10-2-53-59
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