 Microcephaly
"Microcephaly" 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.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
| Descriptor ID |
D008831
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| MeSH Number(s) |
C05.660.207.620 C10.500.507.500 C16.131.621.207.620 C16.131.666.507.500
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Microcephaly".
Below are MeSH descriptors whose meaning is more specific than "Microcephaly".
This graph shows the total number of publications written about "Microcephaly" by people in this website by year, and whether "Microcephaly" 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 |
|---|
| 1982 | 0 | 1 | 1 | | 1983 | 0 | 1 | 1 | | 1984 | 1 | 0 | 1 | | 1985 | 0 | 1 | 1 | | 1993 | 2 | 0 | 2 | | 1994 | 1 | 1 | 2 | | 1998 | 1 | 1 | 2 | | 1999 | 1 | 0 | 1 | | 2000 | 2 | 0 | 2 | | 2001 | 0 | 1 | 1 | | 2002 | 1 | 0 | 1 | | 2003 | 0 | 1 | 1 | | 2004 | 3 | 1 | 4 | | 2005 | 1 | 1 | 2 | | 2006 | 3 | 1 | 4 | | 2007 | 2 | 1 | 3 | | 2008 | 1 | 0 | 1 | | 2009 | 3 | 0 | 3 | | 2010 | 3 | 2 | 5 | | 2011 | 3 | 2 | 5 | | 2012 | 0 | 2 | 2 | | 2013 | 7 | 0 | 7 | | 2014 | 5 | 0 | 5 | | 2015 | 1 | 1 | 2 | | 2016 | 3 | 1 | 4 | | 2018 | 2 | 1 | 3 | | 2019 | 2 | 1 | 3 | | 2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Microcephaly" by people in Profiles.
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Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function. J Hum Genet. 2021 Nov; 66(11):1101-1112.
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Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
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Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 04 01; 142(4):867-884.
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Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624.
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El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. Hum Mol Genet. 2018 06 15; 27(12):2171-2186.
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Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet. 2018 08; 26(8):1132-1142.
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Adams Waldorf KM, Nelson BR, Stencel-Baerenwald JE, Studholme C, Kapur RP, Armistead B, Walker CL, Merillat S, Vornhagen J, Tisoncik-Go J, Baldessari A, Coleman M, Dighe MK, Shaw DWW, Roby JA, Santana-Ufret V, Boldenow E, Li J, Gao X, Davis MA, Swanstrom JA, Jensen K, Widman DG, Baric RS, Medwid JT, Hanley KA, Ogle J, Gough GM, Lee W, English C, Durning WM, Thiel J, Gatenby C, Dewey EC, Fairgrieve MR, Hodge RD, Grant RF, Kuller L, Dobyns WB, Hevner RF, Gale M, Rajagopal L. Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain. Nat Med. 2018 03; 24(3):368-374.
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van der Linden V, Pessoa A, Dobyns W, Barkovich AJ, Júnior HV, Filho EL, Ribeiro EM, Leal MC, Coimbra PP, Aragão MF, Verçosa I, Ventura C, Ramos RC, Cruz DD, Cordeiro MT, Mota VM, Dott M, Hillard C, Moore CA. Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil. MMWR Morb Mortal Wkly Rep. 2016 Dec 02; 65(47):1343-1348.
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Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
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Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. J Neurosurg Pediatr. 2016 Dec; 25(6):717-723.
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