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Hereditary disorders of connective tissue 

Hereditary disorders of connective tissue
Chapter:
Hereditary disorders of connective tissue
Author(s):

Gavin Clunie

, Nick Wilkinson

, Elena Nikiphorou

, and Deepak R. Jadon

DOI:
10.1093/med/9780198728252.003.0019
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date: 26 June 2022

The Oxford Handbook of Rheumatology, 4th edition, includes a chapter on the hereditary diseases of connective tissue. Of importance, up-to-date genetic information and classification of subtypes of osteogenesis imperfecta is reviewed. There is a summary of a broad range of diseases of connective tissue including Marfan syndrome, Stickler disease, and arthrogryposis—conditions encountered occasionally by the rheumatologist. The chapter details the new 2017 criteria for Ehlers–Danlos syndrome and outlines the new classification for the hypermobility spectrum disorders and the distinction between generalized, localized, and regional hypermobility and hypermobility Ehlers–Danlos syndrome, both in adults and in children.

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