SCHWARTZ-JAMPEL SYNDROME - AN ATYPICAL FORM

The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, ''mask-like'' face, blepharophimosis, stif f joints, spinal malalignment, and pectus carinatum. The authors repor t on a 10-year-old girl with expressionless face, blepharophimosis, mi ld thoracic asymmetry, and myotonic electromyographic pattern, but wit hout osteoarticular, spinal, and statural involvement. This appears to be one of the mildest form of SJS described so far. Contiguous genes could be an explanation for this and other atypical cases of SJS. (C) 1993 Wiley-Liss, Inc.