"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.
| Descriptor ID |
D055947
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| MeSH Number(s) |
C05.660.207.532 C14.907.055.050.362 C14.907.055.239.587 C14.907.109.139.587 C16.131.077.537 C16.320.510
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| Concept/Terms |
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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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| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles.
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Whelan AR, Thorsen MM, MacCarrick G, Russo ML. Cardiovascular and obstetrical outcomes among delivering patients with Marfan or Loeys-Dietz syndrome: a retrospective analysis by hospital delivery setting. Am J Obstet Gynecol MFM. 2024 04; 6(4):101340.
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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.
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Balsam LB. Commentary: Management of the aortic arch in Loeys-Dietz and Marfan syndromes. J Thorac Cardiovasc Surg. 2020 11; 160(5):1179-1180.
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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.