## Abstract A case of Schwartz‐Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic f
✦ LIBER ✦
A case of Schwartz–Jampel syndrome with cleft palate
✍ Scribed by Mosaad Abdel-Aziz; Noha A. Azab
- Book ID
- 116565364
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 187 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0165-5876
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Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stu ¨ve-Wiedemann syndrome (SWS), which comprises