TY - CHAP M1 - Book, Section TI - Loeys-Dietz Syndrome 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. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102699701 ER -