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Ehlers-Danlos ñøý¦ÏÛ Ehlers-Danlos Syndrome Occured in Two Generations

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ì°â÷ÜØ (  ) 
ÍÔÕòÓÞùÊÎè ì¢Î¡ÓÞùÊ ù«Ý±Î¡ùÊÎçãø

ì°ú¼éë (  ) 
ÍÔÕòÓÞùÊÎè ì¢Î¡ÓÞùÊ ù«Ý±Î¡ùÊÎçãø

Abstract


Ehlers-Danlos syndrome, a heritable disorder of connective tissue by autosomal dominant mode, is very rare disease in this country. Authors described a typical case in 39 years old woman who had a daughter of 6 years old also affected by this disorder.
The patient had the characteristic hyperelasticity of the skin and hyperextensibility of the jonts especially at metacarpophalangeal joint of the hands. She also revealed hyperterolism and aortic insufficiency on X-ray and E.C.G. examination.

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KCI
KoreaMed
KAMS