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Hereditary diseases of connective tissue 

Hereditary diseases of connective tissue
Chapter:
Hereditary diseases of connective tissue
Source:
Rheumatology (Oxford Desk Reference)
DOI:
10.1093/med/9780199229994.003.0015

Marfan syndrome 438

Ehlers–Danlos syndrome 440

Joint hypermobility syndrome 442

An inherited disorder of connective tissue initially described by Marfan in 1896 and recently shown to be due to defects in the fibrillin gene (FBN-1).

Criteria for the diagnosis of Marfan syndrome have been proposed – the Ghent nosology (De Paepe ...

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