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Abnormal cerebral morphology

MedGen UID:
867394
Concept ID:
C4021762
Anatomical Abnormality
Synonym: Abnormality of the cerebrum
 
HPO: HP:0002060

Definition

Any structural abnormality of the telencephalon, which is also known as the cerebrum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal cerebral morphology

Conditions with this feature

Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.

Professional guidelines

PubMed

Jack CR Jr, Andrews JS, Beach TG, Buracchio T, Dunn B, Graf A, Hansson O, Ho C, Jagust W, McDade E, Molinuevo JL, Okonkwo OC, Pani L, Rafii MS, Scheltens P, Siemers E, Snyder HM, Sperling R, Teunissen CE, Carrillo MC
Alzheimers Dement 2024 Aug;20(8):5143-5169. Epub 2024 Jun 27 doi: 10.1002/alz.13859. PMID: 38934362Free PMC Article
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Hemachudha T, Ugolini G, Wacharapluesadee S, Sungkarat W, Shuangshoti S, Laothamatas J
Lancet Neurol 2013 May;12(5):498-513. doi: 10.1016/S1474-4422(13)70038-3. PMID: 23602163

Recent clinical studies

Etiology

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
Hacein-Bey L, Konstas AA, Pile-Spellman J
Clin Neurol Neurosurg 2014 Jun;121:64-75. Epub 2014 Jan 31 doi: 10.1016/j.clineuro.2014.01.018. PMID: 24636717
Sepulveda W, Wong AE, Sepulveda F, Martinez-Ten P, Ximenes R
Best Pract Res Clin Obstet Gynaecol 2012 Oct;26(5):575-91. Epub 2012 Jul 11 doi: 10.1016/j.bpobgyn.2012.05.010. PMID: 22789608
Barkovich AJ, Raybaud CA
Neuroimaging Clin N Am 2004 May;14(2):231-54, viii. doi: 10.1016/j.nic.2004.03.003. PMID: 15182817
Leventer RJ, Mills PL, Dobyns WB
Am J Med Genet 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W. PMID: 11449490

Diagnosis

Rijckmans E, Stouffs K, Jansen AC
Dev Med Child Neurol 2024 Aug;66(8):974-989. Epub 2024 Feb 23 doi: 10.1111/dmcn.15882. PMID: 38394064
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
Singh P, Goraya JS, Saggar K, Ahluwalia A
Singapore Med J 2012 Jul;53(7):e153-5. PMID: 22815034
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
Hartman AL, Lesser RP
Curr Neurol Neurosci Rep 2007 Nov;7(6):498-507. doi: 10.1007/s11910-007-0077-4. PMID: 17999896

Therapy

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
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
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
Motamedi GK, Meador KJ
Curr Neurol Neurosci Rep 2006 Jul;6(4):341-6. doi: 10.1007/s11910-006-0028-5. PMID: 16822356
Robertson R, MacLeod PM
CMAJ 1985 Dec 1;133(11):1147-8. PMID: 2933136Free PMC Article

Prognosis

Hacein-Bey L, Konstas AA, Pile-Spellman J
Clin Neurol Neurosurg 2014 Jun;121:64-75. Epub 2014 Jan 31 doi: 10.1016/j.clineuro.2014.01.018. PMID: 24636717
Poduri A, Evrony GD, Cai X, Walsh CA
Science 2013 Jul 5;341(6141):1237758. doi: 10.1126/science.1237758. PMID: 23828942Free PMC Article
Hartman AL, Lesser RP
Curr Neurol Neurosci Rep 2007 Nov;7(6):498-507. doi: 10.1007/s11910-007-0077-4. PMID: 17999896
Mizuguchi M, Takashima S
Brain Dev 2001 Nov;23(7):508-15. doi: 10.1016/s0387-7604(01)00304-7. PMID: 11701246
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M
Pediatr Neurol 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. PMID: 9588537

Clinical prediction guides

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
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
Aronica E, Becker AJ, Spreafico R
Brain Pathol 2012 May;22(3):380-401. doi: 10.1111/j.1750-3639.2012.00581.x. PMID: 22497611Free PMC Article
Hartman AL, Lesser RP
Curr Neurol Neurosci Rep 2007 Nov;7(6):498-507. doi: 10.1007/s11910-007-0077-4. PMID: 17999896

Recent systematic reviews

Chaudhary RK, Groskreutz D, Gupta E, Baghdadi Y, Smith S, Sapire J
Surg Radiol Anat 2023 Jun;45(6):777-786. Epub 2023 Mar 11 doi: 10.1007/s00276-023-03117-8. PMID: 36899092
Rao RV, Subramaniam KG, Gregory J, Bredesen AL, Coward C, Okada S, Kelly L, Bredesen DE
Int J Mol Sci 2023 Jan 14;24(2) doi: 10.3390/ijms24021659. PMID: 36675177Free PMC Article
Zeng N, Zhao YM, Yan W, Li C, Lu QD, Liu L, Ni SY, Mei H, Yuan K, Shi L, Li P, Fan TT, Yuan JL, Vitiello MV, Kosten T, Kondratiuk AL, Sun HQ, Tang XD, Liu MY, Lalvani A, Shi J, Bao YP, Lu L
Mol Psychiatry 2023 Jan;28(1):423-433. Epub 2022 Jun 6 doi: 10.1038/s41380-022-01614-7. PMID: 35668159Free PMC Article
Sanchez-Garrido MA, Tena-Sempere M
Mol Metab 2020 May;35:100937. Epub 2020 Feb 5 doi: 10.1016/j.molmet.2020.01.001. PMID: 32244180Free PMC Article
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122

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