Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment-Reference-Cited by-同舟云学术

Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment

Published:2020-08-23 Issue:2 Volume:10 Page:53-59
ISSN:2413-0443
Container-title:Neuromuscular Diseases
language:
Short-container-title:Neuromuscular Diseases

Author:

Kenis V. M.¹^ORCID,Komantsev V. N.²^ORCID,Dimitrieva A. Yu.³^ORCID,Melchenko E. V.⁴^ORCID,Morenko E. S.⁴^ORCID

Affiliation:

1. 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

2. Saint-Petersburg Institute for the Advancement of Medical Experts, Ministry of Labor of Russia

3. North-Western State Medical University named after I.I. Mechnikov, Ministry of Health of Russia

4. H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, Ministry of Health of Russia

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.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Neurology

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