"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
|
| MeSH Number(s) |
C05.660.207.536 C10.500.507.400.249 C16.131.621.207.532 C16.131.666.507.400.249
|
| Concept/Terms |
Megalencephaly- Megalencephaly
- Megalencephalies
- Megalocephaly
- Megalocephalies
- Macrocephaly
- Macrocephalies
- Megacephaly
- Megacephalies
|
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,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 0 | 1 | 1 |
| 2012 | 0 | 1 | 1 |
| 2014 | 0 | 1 | 1 |
| 2015 | 0 | 1 | 1 |
| 2016 | 2 | 2 | 4 |
| 2017 | 1 | 0 | 1 |
| 2018 | 3 | 0 | 3 |
| 2019 | 0 | 1 | 1 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 2 | 0 | 2 |
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Below are the most recent publications written about "Megalencephaly" by people in Profiles.
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Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 10 17; 32(21):3063-3077.
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PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625.
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De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 08; 188(8):2360-2366.
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O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2022 07; 59(7):697-705.
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Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 05; 185(5):1388-1398.
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Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. Exp Mol Pathol. 2020 08; 115:104471.
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 02; 22(2):389-397.
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
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Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 04; 93(4):919-924.
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Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure. Pediatr Radiol. 2018 08; 48(8):1172-1177.