S-J syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. Case report: first case: n.1. A boy aged 7 years. His main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. Myotonic ...
