The Schwartz-Jampel syndrome. A minireview

The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by constant findings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other findings are more or less frequently associated, especially skeletal abnormalities, including dwarfism or anyway short stature. The Authors review the literature about this condition analysing the clinical picture, the recent genetical findings, the electrophysiological and histopathological studies and the different patogenetical hypothesis.