Key result
Orthopedic surgical treatment in patients with Schwartz-Jampel syndrome successfully corrected lower limb deformities, improved function, and prevented the progression of contractures.
Why the study?
Schwartz-Jampel syndrome is a rare monogenic disorder combining skeletal dysplasia and neuromuscular disease, warranting the description of rare clinical cases to discuss diagnostic principles and orthopedic surgical treatment.
Case Report (n=4)
No
Surgical correction of orthopedic deformities in Schwartz-Jampel syndrome is pathogenetically justified and provides significant functional improvement.
May support individualized surgery for limb deformities in Schwartz–Jampel syndrome; leaves open standardized protocols and long-term outcomes.
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.
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Kenis et al. (2020) conducted a case report in Schwartz-Jampel syndrome (chondrodystrophic myotonia) (n=4). Orthopedic surgical treatment was evaluated on Correction of deformities and functional improvement. Orthopedic surgical treatment in patients with Schwartz-Jampel syndrome successfully corrected lower limb deformities, improved function, and prevented the progression of contractures.
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