Schwartz-Jampel syndrome in two daughters of first cousins

Abstract

The clinical and pathological features of 2 sisters born from consanguineous parents and affected by the rare Schwart-Jampel syndrome are reported. The parental consanguinity of these 2 patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.