Heterogeneity of the Ehlers-Danlos Syndrome: Description of Three Clinical Types and a Hypothesis to Explain the Basic Defect(s) | oneedsvoice

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Heterogeneity of the Ehlers-Danlos Syndrome: Description of Three Clinical Types and a Hypothesis to Explain the Basic Defect(s)

key information

source: British Medical Journal

year: 1967

authors: Barabas AP

summary/abstract:

The Ehlers-Danlos syndrome is an inherited disorder of connective tissue; it belongs to the same group of diseases as Marfan’s syndrome, osteogenesis imperfecta, and Hurler’s syndrome (McKusick, 1966). Recently the heterogeneity of some of the syndromes became apparent-for example, Hurler’s syndrome was shown to comprise at least five different genotypes (McKusick, 1966).

However, Ehlers-Danlos syndrome is still regarded as a single disease entity, but evidence is here given that at least three types are included in -the present clinical definition of the syndrome.

organisation: Royal Postgraduate Medical School; Hammersmith Hospital

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