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KMID : 0381219700020010075
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Journal of RIMSK
1970 Volume.2 No. 1 p.75 ~ p.79
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CASE REPORT OF MARFAN´ S SYNDROME (ARACHNODACTYLY)
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김영조/--
박장원/안유철/Park, Jang Won/Ahn, Yoo Chul
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Abstract
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We report here two cases of Marfan´s syndrome in which there is a congenital growth disturbance of the musculoskeletal, cardiovascular and ocular system.
It was first described by Marfan in 1896 and named "Arachnodactyly" by Achard in 1902. It also named "Dystrophia Mesodermalis Congenita" or "Typhus Marfanis" by McKusick and others in 1960.
About 400 cases of this syndrome have been reported, of which 9 cases were reported in this country.
As or the etiologic factors, strong hereditary factor (Simple-Mendelian antosomal ;dominant trait), mesodermal dysplasia and new mutation of gene were considered, but the exact cause of this syndrome has not been cleared.
Recent experimentation has suggested that the cause of this syndrome were interference with normal sulfate (chondroitin sulfate) or zinc ion metabolism.
We have experienced two cases of Marfan´s syndrome appeared in one sibling in our Department.
In these cases, the manifestations of the musculoskeletal and the ocular system were typical to the syndrome, but the changes in the cardiovascular system were not typical. Only moderate cardiac enlargement without symptom was noted.
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KEYWORD
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