Schwartz-Jampel syndrome in two daughters of first cousins.
The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two 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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001120:Arginine / Q000494:pharmacology; D002648:Child; D003241:Consanguinity; D004576:Electromyography; D005141:Eyelid Diseases / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D013006:Growth Hormone / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000494:pharmacology; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D007328:Insulin; D013006:Growth Hormone; D001120:Arginine