Show Summary Details
Page of

SOX9, Campomelic Dysplasia, and Sex Reversal 

SOX9, Campomelic Dysplasia, and Sex Reversal
SOX9, Campomelic Dysplasia, and Sex Reversal

Sahar Mansour

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. 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: 09 March 2021

Campomelic dysplasia (also known as camptomelic dysplasia) (CMD) is a rare, usually lethal skeletal dysplasia. Unlike other forms of skeletal dysplasia, it is frequently associated with XY sex reversal. The gene for this condition, SOX9, was identified in 1994. As suggested by the phenotype in CMD, SOX9 is an important gene, not only in chondrogenesis but also in the sex determination pathway. In this chapter SOX9 and its role in both the sex determination pathway and the cartilage and collagen pathway are discussed. The clinical and radiological features of CMD are described, including the phenotype and complications in survivors with this condition.

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.