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 discharges in EMG and muscular dystrophy in muscle biopsy observed. Hypoplasia of clavicle, generalized osteopenia, mild platyspondyly and delayed bone age were radiologic findings of this patient. Second case: A boy aged 8 years. His cardinal abnormalities were similar to case 1. Hip joint limitation, low set ear, anterior cortical opacity of lens, small testis and coxa valga were the other manifestations of this patient. Both patients have a normal IQ and parental consanguinity was also present. CBZ was used for both patients

Full-Text [PDF 747 kb]   (2173 Downloads)