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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