 Facies
"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
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| MeSH Number(s) |
C23.550.291.812 E01.370.600.230
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| Concept/Terms |
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 0 | 1 | 1 | | 2000 | 0 | 1 | 1 | | 2001 | 1 | 0 | 1 | | 2003 | 0 | 1 | 1 | | 2004 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2016 | 0 | 2 | 2 | | 2018 | 1 | 1 | 2 | | 2019 | 1 | 1 | 2 | | 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Facies" by people in Profiles.
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Nabais Sá MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.
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Shelkowitz E, Singh JK, Larson A, Elias ER. IRF2BPL gene mutation: Expanding on neurologic phenotypes. . 2019 11; 179(11):2263-2271.
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Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. J Autism Dev Disord. 2019 May; 49(5):2184-2202.
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Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL, Dyment DA, Boycott KM, Clericuzio CL. A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. Clin Genet. 2018 10; 94(3-4):303-312.
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Diets IJ, Prescott T, Champaigne NL, Mancini GMS, Krossnes B, Fric R, Kocsis K, Jongmans MCJ, Kleefstra T. A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Genet Med. 2019 03; 21(3):572-579.
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Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. . 2016 11; 170(11):2870-2881.
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Wright JT, Puranik CP, Farrington F. Oral phenotype and variation in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):52-8.
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Saari J, Lovell MA, Yu HC, Bellus GA. Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. . 2015 Feb; 167A(2):421-7.
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Sokol RJ. Re: Article by Kamath et al.-"Facial features in Alagille Syndrome". . 2004 Jan 15; 124A(2):220-1; reply 222-3.
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Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. . 2003 Nov 15; 123A(1):84-90.
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