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
|
| MeSH Number(s) |
C05.660.207 C16.131.621.207
|
| Concept/Terms |
|
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 |
|---|
| 2003 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2015 | 2 | 0 | 2 | | 2016 | 2 | 0 | 2 | | 2017 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 2 | 0 | 2 | | 2020 | 2 | 0 | 2 | | 2022 | 0 | 1 | 1 | | 2025 | 2 | 1 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
-
Watts JL, Willeke L, Stottmann RW. Mouse variants in Taf1c result in reduced survival to birth. Dev Biol. 2025 Dec; 528:143-151.
-
Mattioli F, Fri?riksd?ttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson ?, Sulem P, Halldorsson GH, Melsted P, Gu?bjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome Med. 2025 Apr 14; 17(1):38.
-
Duis J, Agresta L, Bennett WE, Chambers H, Clarke A, Fairhurst C, Hoover-Fong J, Murphy F, Noritz G, Schwantes S, Shreve M, Thusang K, Weidemann D, Beale R, Mehta A, Wilhelmsen A, Summerfield N. International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study. Am J Med Genet A. 2025 Jun; 197(6):e64015.
-
Michell-Robinson MA, Perrier S, Lucia C, Tran LT, Thiffault I, K?hler W, Bernard G. Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults. Neurology. 2022 04 19; 98(16):675-677.
-
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altm?ller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Co?slier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 10; 28(10):1422-1431.
-
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610.
-
Porath B, Farooki S, Gener M, Amudhavalli SM, Grote L, Cooley LD, Ginn K, Farooqi MS. Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. Clin Genet. 2020 04; 97(4):670-671.
-
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. Am J Hum Genet. 2019 04 04; 104(4):758-766.
-
Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Eur J Med Genet. 2019 Dec; 62(12):103588.
-
Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 08 01; 26(15):2838-2849.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|