Schwartz-Jampel syndrome and presentation of two cases from Children's Hospital Medical Center
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 hypertrop...
| Main Authors: | , |
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| Format: | Article |
| Language: | fas |
| Published: |
Tehran University of Medical Sciences
1998-06-01
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| Series: | Tehran University Medical Journal |
| Online Access: | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/5826.pdf&manuscript_id=5826 |