Craniofacial Abnormalities
"Craniofacial Abnormalities" 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.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Descriptor ID |
D019465
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MeSH Number(s) |
C05.660.207 C16.131.621.207
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Craniofacial Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Craniofacial Abnormalities".
This graph shows the total number of publications written about "Craniofacial Abnormalities" by people in this website by year, and whether "Craniofacial Abnormalities" 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 |
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1997 | 3 | 0 | 3 |
1998 | 3 | 0 | 3 |
1999 | 1 | 2 | 3 |
2002 | 1 | 0 | 1 |
2003 | 2 | 0 | 2 |
2004 | 1 | 2 | 3 |
2005 | 4 | 6 | 10 |
2006 | 2 | 2 | 4 |
2007 | 4 | 4 | 8 |
2008 | 5 | 4 | 9 |
2009 | 1 | 2 | 3 |
2010 | 1 | 2 | 3 |
2011 | 1 | 2 | 3 |
2012 | 3 | 3 | 6 |
2013 | 5 | 1 | 6 |
2014 | 2 | 1 | 3 |
2015 | 1 | 0 | 1 |
2016 | 2 | 0 | 2 |
2017 | 7 | 1 | 8 |
2018 | 2 | 1 | 3 |
2019 | 4 | 1 | 5 |
2020 | 11 | 2 | 13 |
2021 | 5 | 2 | 7 |
2022 | 1 | 0 | 1 |
2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov; 60(11):1092-1104.
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
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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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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Sci Rep. 2021 05 28; 11(1):11295.
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Distraction Osteogenesis: Mandible and Maxilla. Facial Plast Surg. 2021 Dec; 37(6):751-758.
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Discussion on Craniofacial Microsurgery: An Integrated Approach to Management of Cleft and Craniofacial Syndromes, Surgical Experience and Insights. J Craniofac Surg. 2021 May 01; 32(Suppl 3):1220-1221.
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.