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Variants of the Ehlers-Danlos Syndrome. Clinical, Biochemical, Haematological, and Chromosomal Features of 100 Patients
source: Annals of the Rheumatic Diseases
year: 1969
authors: Beighton P, Price A, Lord J, Dickson E
summary/abstract:The Ehlers-Danlos syndrome (EDS) is an uncommon genetically-determined disorder of connective tissue. The main characteristics are joint hypermobility and skin hyperextensibility. The skin tends to split on minor trauma, with the formation of thin, gaping scars. The condition is usually transmitted by the autosomal dominant mode of inheritance.
A bruising tendency is frequently present and orthopaedic, cardiovascular, gastrointestinal, and ocular concomitants occur. Other features which are sometimes found are calcified subcutaneous spheroids and molluscoid pseudotumours.
During a recent survey one hundred patients with the EDS were examined and investigated. It became apparent that, although the stigmata of the condition were very similar in members of the same family, there was a very wide variation between different families, to the extent that the syndrome was manifestly more than one entity. On analysis of the results, five well-defined types emerged, and it is the purpose of this paper to describe the characteristics of these variants of the EDS and to present the results of biochemical,, haematological, and chromosomal investigations in patients representing each of these types of the syndrome.
organization: St. Thomas's Hospital LondonDOI: 10.1136/ard.28.3.228
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