 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 |
|---|
| 2010 | 1 | 0 | 1 | | 2013 | 0 | 1 | 1 | | 2018 | 2 | 0 | 2 | | 2022 | 1 | 0 | 1 | | 2023 | 2 | 0 | 2 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Megalencephaly" by people in Profiles.
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Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Bayrak-Toydemir P, Botto LD, Mao R. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516.
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Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ad?s L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 10 17; 32(21):3063-3077.
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Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia. Pediatr Neurol. 2023 10; 147:154-162.
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Neuberger I, Stence NV, Maloney JA, White CJ, Mirsky DM. Imaging of Macrocephaly. Clin Perinatol. 2022 09; 49(3):715-734.
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Schultz-Rogers L, Muthusamy K, Pinto E Vairo F, Klee EW, Lanpher B. Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report. BMC Med Genet. 2020 11 10; 21(1):219.
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Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560.
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Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619.
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Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013 Oct; 163(4):1085-94.
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Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet. 2012 Sep 07; 91(3):444-54.
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Stein MT, Elias ER, Saenz M, Pickler L, Reynolds A. Autistic spectrum disorder in a 9-year-old girl with macrocephaly. J Dev Behav Pediatr. 2010 Sep; 31(7):632-4.
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