Megalencephaly
"Megalencephaly" 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 occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Descriptor ID |
D058627
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MeSH Number(s) |
C05.660.207.536 C10.500.507.400.249 C16.131.621.207.532 C16.131.666.507.400.249
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Concept/Terms |
Megalencephaly- Megalencephaly
- Megalencephalies
- Megalocephaly
- Megalocephalies
- Macrocephaly
- Macrocephalies
- Megacephaly
- Megacephalies
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Below are MeSH descriptors whose meaning is more general than "Megalencephaly".
Below are MeSH descriptors whose meaning is more specific than "Megalencephaly".
This graph shows the total number of publications written about "Megalencephaly" by people in this website by year, and whether "Megalencephaly" 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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2013 | 1 | 0 | 1 | 2014 | 0 | 1 | 1 | 2016 | 2 | 0 | 2 | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Megalencephaly" by people in Profiles.
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Whitehead MT, Lee B, McCarron A, Fricke ST, Vezina G. Reduced subarachnoid fluid diffusion in enlarged subarachnoid spaces of infancy. Neuroradiol J. 2017 Oct; 30(5):418-424.
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George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394.
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Khan NE, Bauer AJ, Doros L, Schultz KA, Decastro RM, Harney LA, Kase RG, Carr AG, Harris AK, Williams GM, Dehner LP, Messinger YH, Stewart DR. Macrocephaly associated with the DICER1 syndrome. Genet Med. 2017 02; 19(2):244-248.
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Smpokou P, Fox VL, Tan WH. PTEN hamartoma tumour syndrome: early tumour development in children. Arch Dis Child. 2015 Jan; 100(1):34-7.
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Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33.
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