 Loeys-Dietz Syndrome
"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 UAMS Profiles by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles over the past ten years.
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Richter JE, Samreen A, Vadlamudi C, Helmi H, Mohammad AN, Wierenga K, Hines S, Atwal PS, Caulfield TR. Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys?Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. Medicina (Kaunas). 2019 05 15; 55(5).
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Collins RT, Flor JM, Tang X, Bange JM, Zarate YA. Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome. Res Dev Disabil. 2018 Dec; 83:153-159.
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