Schwartz-Jampel syndrome and presentation of two cases from Children&#039;s Hospital Medical Center

Ashrafi , M; Mohammadi , M

Volume 56, Issue 3 (1 1998) Tehran Univ Med J 1998, 56(3): 65-68 | Back to browse issues page

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Ashrafi M, Mohammadi M. Schwartz-Jampel syndrome and presentation of two cases from Children's Hospital Medical Center. Tehran Univ Med J 1998; 56 (3) :65-68
URL: http://tumj.tums.ac.ir/article-1-1561-en.html

Schwartz-Jampel syndrome and presentation of two cases from Children's Hospital Medical Center

M Ashrafi ^*

, M Mohammadi

Abstract: (9077 Views)

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

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