Show Summary Details
Page of

TGFBR 1/2 and Loeys-Dietz Syndrome 

TGFBR 1/2 and Loeys-Dietz Syndrome
TGFBR 1/2 and Loeys-Dietz Syndrome

Bart L. Loeys

and Harry C. Dietz

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: 28 February 2021

Loeys-Dietz Syndrome is an autosomal dominant aortic aneurysm syndrome characterized by the triad of hypertelorism, bifid uvula/cleft palate, and arterial tortuosity with ascending aortic aneurysm/dissection which was initially described in 10 families [Loeys–Dietz syndrome (LDS); MIM 609192] (Loeys et al., 2005). It is associated with multiple other findings, including craniosynostosis, Arnold Chiari type I malformation, pectus deformity, scoliosis, arachnodactyly, club feet, patent ductus arteriosus, atrial septal defect, bicuspid semilunar valves, and aneurysms/dissections throughout the arterial tree. It is due to mutations in TGFRB1 or TGFRB2 and the Angiotensin-II pathway seems involved in its etiology (Gallo, et al, 2014).

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.