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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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	Craniofacial Abnormalities Craniofacial Abnormalities Abnormalities, Craniofacial Abnormality, Craniofacial Craniofacial Abnormality

Below are MeSH descriptors whose meaning is more general than "Craniofacial Abnormalities".

Diseases [C]
Musculoskeletal Diseases [C05]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Musculoskeletal Abnormalities [C16.131.621]
Craniofacial Abnormalities [C16.131.621.207]

Below are MeSH descriptors whose meaning is related to "Craniofacial Abnormalities".

Below are MeSH descriptors whose meaning is more specific than "Craniofacial Abnormalities".

publications

Timeline | Most Recent

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.

Bar chart showing 17 publications over 11 distinct years, with a maximum of 3 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1998	0	1	1
1999	2	0	2
2003	1	0	1
2005	1	1	2
2006	0	1	1
2008	1	0	1
2012	1	0	1
2014	1	1	2
2015	1	1	2
2017	2	1	3
2020	1	0	1

Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.

Castro VL, Reyes-Nava NG, Sanchez BB, Gonzalez CG, Paz D, Quintana AM. Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism. Genesis. 2020 12; 58(12):e23397.

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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.

View in: PubMed
Quintana AM, Hernandez JA, Gonzalez CG. Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development. PLoS One. 2017; 12(7):e0180856.

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Fish JL, Albertson C, Harris MP, Lozanoff S, Marcucio RS, Richtsmeier JT, Trainor PA. The society for craniofacial genetics and developmental biology 39th annual meeting. Am J Med Genet A. 2017 Apr; 173(4):985-1006.

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Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015 Aug 01; 24(15):4443-53.

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Richtsmeier JT, Jones MC, Lozanoff S, Trainor PA. The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting. Am J Med Genet A. 2015 Jul; 167(7):1455-73.

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Quintana AM, Geiger EA, Achilly N, Rosenblatt DS, Maclean KN, Stabler SP, Artinger KB, Appel B, Shaikh TH. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Dev Biol. 2014 Dec 01; 396(1):94-106.

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Fong KS, Adachi DA, Chang SB, Lozanoff S. Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse. Birth Defects Res A Clin Mol Teratol. 2014 Aug; 100(8):598-607.

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Lee JK, Moon HJ, Park MS, Yoo WJ, Choi IH, Cho TJ. Change of craniofacial deformity after sternocleidomastoid muscle release in pediatric patients with congenital muscular torticollis. J Bone Joint Surg Am. 2012 Jul 03; 94(13):e93.

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Fong KS, Cooper TB, Drumhiller WC, Somponpun SJ, Yang S, Ernst T, Chang L, Lozanoff S. Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. Birth Defects Res A Clin Mol Teratol. 2012 Feb; 94(2):102-13.

View in: PubMed

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