"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 |
|---|
| 2012 | 2 | 0 | 2 |
| 2013 | 3 | 0 | 3 |
| 2014 | 1 | 0 | 1 |
| 2015 | 2 | 1 | 3 |
| 2016 | 2 | 0 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 4 | 0 | 4 |
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Below are the most recent publications written about "Megalencephaly" by people in Profiles.
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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 01; 188(1):272-282.
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The Names of Things: The 2018 Bernard Sachs Lecture. Pediatr Neurol. 2021 09; 122:41-49.
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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Am J Med Genet A. 2021 09; 185(9):2719-2738.
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Late Diagnosis of Congenital Toxoplasmosis with Macrocephaly in Dizygotic Twins after Incidental Detection of Leukocoria: A Case Report. J Pediatr. 2021 Sep; 236:301-306.
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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005.
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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):582-590.
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 01; 140(10):2610-2622.
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129.
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.