Show Summary Details
Page of

Hereditary diseases of connective tissue 

Hereditary diseases of connective tissue
Chapter:
Hereditary diseases of connective tissue
DOI:
10.1093/med/9780199229994.003.0015
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 31 May 2020

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 ...

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.