The Schwartz-Jampel Syndrome. A Minireview

Abstract

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