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V.S. McKusick (1966)
Heritable Disorders of Connective Tissue
P. Beighton (1968)
X-linked Recessive Inheritance in the Ehlers-Danlos SyndromeBrit Med J, 3
P. Beighton (1968)
Lethal Complications of the Ehlers-Danlos SyndromeBrit Med J, 3
Abstract Denouement and Discussion Ehlers-Danlos Syndrome Manifestations The major manifestations of this syndrome are articular hypermobility, hyperelastic skin, and a tendency to lacerations on relatively minor trauma. Over the bony prominences may be found wide "cigarette paper" scars and fleshy "molluscoid pseudotumors." A bleeding diathesis, of variable severity, is frequently present, and hemorrhage and hematoma formation may occur. Numerous small, hard, subcutaneous nodules are often palpable under the skin, especially over the knees, shins, and forearms. These are calcified and can be demonstrated radiographically, constituting a characteristic feature of the condition.Inguinal and umbilical hernias are common and orthopedic abnormalities, including joint effusions, flat feet, dislocation of joints, and genu recurvatum are frequently encountered. Ocular abnormalities include ease in everting the upper lid, strabismus, and epicanthal folds. Dissecting aneurysm of the aorta, rupture of peripheral arteries, and spontaneous perforation of the intestine are rare but potentially lethal complica References 1. McKusick, V.S.: Heritable Disorders of Connective Tissue , ed 3, St. Louis: C. V. Mosby, 1966. 2. Beighton, P.: X-linked Recessive Inheritance in the Ehlers-Danlos Syndrome , Brit Med J 3:409-411 ( (Aug 11) ) 1968.Crossref 3. Beighton, P.: Lethal Complications of the Ehlers-Danlos Syndrome , Brit Med J 3:656-660 ( (Sept 14) ) 1968.Crossref
American Journal of Diseases of Children – American Medical Association
Published: Dec 1, 1969
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