Abstract
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 language | English |
|---|---|
| Pages (from-to) | 47-54 |
| Number of pages | 8 |
| Journal | Clinical Dysmorphology |
| Volume | 2 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1993 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Anatomy
- Pathology and Forensic Medicine
- Genetics(clinical)