RT Book, Section A1 Oswald, Gretchen A1 Dietz, Harold C. A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102699701 T1 Loeys-Dietz Syndrome T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102699701 RD 2024/03/28 AB Disease summary:Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular features (aortic aneurysm or dissection and arterial tortuosity with risk of aneurysm throughout the arterial tree) in addition to a variety of skeletal (scoliosis, pectus deformity, joint laxity, clubfoot or varus deformities, cervical spine instability) and cutaneous features (skin translucency, hernias, abnormal scarring). A proportion of individuals who come to medical attention at young ages have severe craniofacial anomalies (craniosynostosis, cleft palate, hypertelorism) typically associated with more severe vascular disease. The spectrum of physical manifestations is broad.LDS is caused by mutations in TGFBR1, TGFBR2, SMAD3, and TGFB2 genes.