"Facies" 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.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
| Descriptor ID |
D019066
|
| MeSH Number(s) |
C23.550.291.812 E01.370.600.230
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Facies".
Below are MeSH descriptors whose meaning is more specific than "Facies".
This graph shows the total number of publications written about "Facies" by people in this website by year, and whether "Facies" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 0 | 1 | 1 |
| 2001 | 0 | 1 | 1 |
| 2003 | 0 | 2 | 2 |
| 2006 | 1 | 1 | 2 |
| 2007 | 0 | 3 | 3 |
| 2008 | 0 | 1 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 0 | 3 | 3 |
| 2012 | 0 | 3 | 3 |
| 2013 | 0 | 6 | 6 |
| 2014 | 0 | 4 | 4 |
| 2015 | 0 | 4 | 4 |
| 2016 | 0 | 8 | 8 |
| 2017 | 1 | 4 | 5 |
| 2018 | 0 | 4 | 4 |
| 2019 | 1 | 4 | 5 |
| 2020 | 0 | 4 | 4 |
| 2021 | 0 | 6 | 6 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 3 | 3 |
| 2024 | 0 | 3 | 3 |
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Below are the most recent publications written about "Facies" by people in Profiles.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Dec; 196(4):e32089.
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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 Oct; 194(10):e63638.
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 06 01; 110(6):963-978.
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A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome. Am J Med Genet A. 2023 06; 191(6):1576-1580.
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Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report. Clin Dysmorphol. 2023 04 01; 32(2):77-79.
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
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Response to Biesecker et?al. Am J Hum Genet. 2021 09 02; 108(9):1807-1808.
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.