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Ehlers-Danlos Syndrome
source: Annals of the Rheumatic Diseases
year: 1970
authors: Beighton P
summary/abstract:The Ehlers- Danlos syndrome is a genetically-determined disorder of connective tissue, characterized by hypermobile joints, hyperextensible skin, and a tendency for the skin to split on minor trauma with the formation of wide gaping scars. The condition is rare and about 300 cases have so far been recorded in the world literature.
During a recent survey in Southern England 100 cases have been examined and the following significant facts have emerged:
(1) The syndrome is probably composed of five separate entities which are clinically recognizable. The importance of these is that one of them is lethal, with a high incidence of sudden death, one is associated with many minor complications, and one is transmitted as an X-linked trait. The implication of this last fact is that this particular variety of the Ehlers- Danlos syndrome must be a completely separate condition.
(2) It has become apparent that musculoskeletal disoiders occur generally in the Ehlers- Danlos syndrome. Among these are joint dislocations and subluxations, thoracic abnormality, and spinal deformity.
(3) Biochemical, haematological, chromosome, and genetic linkage investigations have been carried out.
DOI: 10.1136/ard.29.3.332
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