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Abnormal forebrain morphology

MedGen UID:
866620
Concept ID:
C4020967
Anatomical Abnormality
Synonyms: Abnormal shape of forebrain; Abnormality of forebrain morphology; Abnormality of the forebrain
 
HPO: HP:0100547

Definition

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal forebrain morphology

Professional guidelines

PubMed

Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, Li Z, Liu S, Feng H, Huang W, Duan R, Xu T, Raj N, Zhang F, Dou J, Xu C, Wu H, Bassell GJ, Warren ST, Allen EG, Jin P, Wen Z
Nat Neurosci 2021 Oct;24(10):1377-1391. Epub 2021 Aug 19 doi: 10.1038/s41593-021-00913-6. PMID: 34413513Free PMC Article
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
Falco-Walter J, Owen C, Sharma M, Reggi C, Yu M, Stoub TR, Stein MA
Neurotherapeutics 2017 Jan;14(1):4-10. doi: 10.1007/s13311-016-0506-7. PMID: 28054328Free PMC Article
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Guerrini R, Parrini E
Neurobiol Dis 2010 May;38(2):154-66. Epub 2009 Feb 23 doi: 10.1016/j.nbd.2009.02.008. PMID: 19245832
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975

Diagnosis

Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB
Brain 2012 May;135(Pt 5):1348-69. Epub 2012 Mar 16 doi: 10.1093/brain/aws019. PMID: 22427329Free PMC Article
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975
Eriksson SH, Malmgren K, Nordborg C
Acta Neurol Scand 2005 May;111(5):279-90. doi: 10.1111/j.1600-0404.2005.00386.x. PMID: 15819707

Therapy

Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, Li Z, Liu S, Feng H, Huang W, Duan R, Xu T, Raj N, Zhang F, Dou J, Xu C, Wu H, Bassell GJ, Warren ST, Allen EG, Jin P, Wen Z
Nat Neurosci 2021 Oct;24(10):1377-1391. Epub 2021 Aug 19 doi: 10.1038/s41593-021-00913-6. PMID: 34413513Free PMC Article
Pinto B, Morelli G, Rastogi M, Savardi A, Fumagalli A, Petretto A, Bartolucci M, Varea E, Catelani T, Contestabile A, Perlini LE, Cancedda L
Neuron 2020 Dec 9;108(5):887-904.e12. Epub 2020 Oct 6 doi: 10.1016/j.neuron.2020.09.010. PMID: 33027640Free PMC Article
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Obeso JA, Rodríguez-Oroz MC, Benitez-Temino B, Blesa FJ, Guridi J, Marin C, Rodriguez M
Mov Disord 2008;23 Suppl 3:S548-59. doi: 10.1002/mds.22062. PMID: 18781672
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Society for Maternal-Fetal Medicine (SMFM), Ward A, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B23-B26. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.180. PMID: 33168214
Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Volpe P, Campobasso G, De Robertis V, Rembouskos G
Prenat Diagn 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. PMID: 19184971

Clinical prediction guides

Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, Li Z, Liu S, Feng H, Huang W, Duan R, Xu T, Raj N, Zhang F, Dou J, Xu C, Wu H, Bassell GJ, Warren ST, Allen EG, Jin P, Wen Z
Nat Neurosci 2021 Oct;24(10):1377-1391. Epub 2021 Aug 19 doi: 10.1038/s41593-021-00913-6. PMID: 34413513Free PMC Article
Kropf E, Syan SK, Minuzzi L, Frey BN
Braz J Psychiatry 2019 May-Jun;41(3):261-269. Epub 2018 Dec 6 doi: 10.1590/1516-4446-2018-0183. PMID: 30540029Free PMC Article
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP
Nature 2017 May 4;545(7652):54-59. Epub 2017 Apr 26 doi: 10.1038/nature22330. PMID: 28445465Free PMC Article
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article

Recent systematic reviews

Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Haukvik UK, Tamnes CK, Söderman E, Agartz I
J Psychiatr Res 2018 Sep;104:217-226. Epub 2018 Aug 7 doi: 10.1016/j.jpsychires.2018.08.012. PMID: 30107268
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Mwansisya TE, Hu A, Li Y, Chen X, Wu G, Huang X, Lv D, Li Z, Liu C, Xue Z, Feng J, Liu Z
Schizophr Res 2017 Nov;189:9-18. Epub 2017 Mar 3 doi: 10.1016/j.schres.2017.02.026. PMID: 28268041
Ira E, Zanoni M, Ruggeri M, Dazzan P, Tosato S
J Psychiatry Neurosci 2013 Nov;38(6):366-80. doi: 10.1503/jpn.120178. PMID: 23527885Free PMC Article

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