Korean J Dermatol.  1973 Dec;11(3):193-196.

Ehlers - Danlos Syndrome Occured in Two Generations

• Lee SB
• Lee HW

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 affectect 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.

MeSH Terms

Adult
Child
Connective Tissue
Ehlers-Danlos Syndrome
Family Characteristics*
Female
Hand
Humans
Metacarpophalangeal Joint
Nuclear Family
Rare Diseases
Skin