The Schwartz-Jampel syndrome

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11 Citations (Scopus)


Three sibs with severe manifestation of Schwarz-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.

Original languageEnglish
Pages (from-to)47-54
Number of pages8
JournalClinical Dysmorphology
Issue number1
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)


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