The Schwartz-Jampel syndrome
Abstract
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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