"Loeys-Dietz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Below are MeSH descriptors whose meaning is more general than "Loeys-Dietz Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Loeys-Dietz Syndrome".
This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in this website by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles.
Fry D, Groepper D, MacCarrick G, Demo EM, Thomas MJ, Wilkes MJ, Lyons MJ, Tucker ME, Steding C, Fleischer J. Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype. Am J Med Genet A. 2022 07; 188(7):2237-2241.
Balsam LB. Commentary: Management of the aortic arch in Loeys-Dietz and Marfan syndromes. J Thorac Cardiovasc Surg. 2020 11; 160(5):1179-1180.
Kuisle AM, Gauguet S, Karlin LI, Dauber A, McCann ME. Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy. Can J Anaesth. 2011 Apr; 58(4):392-5.