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Abnormal midbrain morphology

MedGen UID:
867390
Concept ID:
C4021755
Anatomical Abnormality
Synonym: Abnormality of midbrain morphology
 
HPO: HP:0002418

Definition

An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [from HPO]

Professional guidelines

PubMed

Chen F, Li DZ
Taiwan J Obstet Gynecol 2023 Mar;62(2):380-381. doi: 10.1016/j.tjog.2022.08.019. PMID: 36965918
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Zhao Q, Behringer RR, de Crombrugghe B
Nat Genet 1996 Jul;13(3):275-83. doi: 10.1038/ng0796-275. PMID: 8673125

Recent clinical studies

Etiology

Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Kumar S, Goyal L, Singh S
CNS Neurol Disord Drug Targets 2022;21(7):596-609. doi: 10.2174/1871527320666211006142100. PMID: 34620070
Wang C, Kang X, Zhou L, Chai Z, Wu Q, Huang R, Xu H, Hu M, Sun X, Sun S, Li J, Jiao R, Zuo P, Zheng L, Yue Z, Zhou Z
Nat Commun 2018 Jan 8;9(1):81. doi: 10.1038/s41467-017-02593-y. PMID: 29311685Free PMC Article
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE
Cell 2014 Jul 17;158(2):263-276. Epub 2014 Jul 3 doi: 10.1016/j.cell.2014.06.017. PMID: 24998929Free PMC Article
Maruyama K, Koga T, Niranjan A, Kondziolka D, Flickinger JC, Lunsford LD
Prog Neurol Surg 2013;27:67-72. Epub 2012 Dec 11 doi: 10.1159/000341639. PMID: 23258510

Diagnosis

Zak I, Hadidchi S, Ross P
Neuroradiology 2024 Sep;66(9):1577-1580. Epub 2024 Jun 24 doi: 10.1007/s00234-024-03408-w. PMID: 38910174
Lensing FD, Abele TA, Sivakumar W, Taussky P, Shah LM, Salzman KL
Curr Probl Diagn Radiol 2015 Jan-Feb;44(1):76-87. Epub 2014 Jul 11 doi: 10.1067/j.cpradiol.2014.05.007. PMID: 25027864
Lammel S, Lim BK, Malenka RC
Neuropharmacology 2014 Jan;76 Pt B(0 0):351-9. Epub 2013 Apr 8 doi: 10.1016/j.neuropharm.2013.03.019. PMID: 23578393Free PMC Article
Lester J, Ruano-Calderón LA, González-Olhovich I
J Neuroimaging 2005 Jul;15(3):284-5. doi: 10.1177/1051228405275195. PMID: 15951414
Kölmel HW
J Neurol 1991 Dec;238(8):457-9. doi: 10.1007/BF00314654. PMID: 1779254

Therapy

Yoshii T
Int J Mol Sci 2021 Feb 9;22(4) doi: 10.3390/ijms22041730. PMID: 33572198Free PMC Article
Nawrot M
Neurol Clin 2003 Aug;21(3):609-29. doi: 10.1016/s0733-8619(02)00126-3. PMID: 13677815
Collins MA, Neafsey EJ
Neurotoxicol Teratol 2002 Sep-Oct;24(5):571-7. doi: 10.1016/s0892-0362(02)00210-6. PMID: 12200188
Rodier PM, Ingram JL, Tisdale B, Croog VJ
Reprod Toxicol 1997 Mar-Jun;11(2-3):417-22. doi: 10.1016/s0890-6238(97)80001-u. PMID: 9100317
Alves RS, Barbosa ER, Scaff M
Mov Disord 1992;7(2):178-80. doi: 10.1002/mds.870070213. PMID: 1350062

Prognosis

Ponnusamy R, McNerney MW, Moghadam S, Salehi A
Brain Res 2019 Jan 1;1702:3-11. Epub 2017 Nov 8 doi: 10.1016/j.brainres.2017.09.035. PMID: 29102776
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Fritsch MJ, Schroeder HW
World Neurosurg 2013 Feb;79(2 Suppl):S20.e15-8. Epub 2012 Feb 10 doi: 10.1016/j.wneu.2012.02.013. PMID: 22381819
Braak H, Ghebremedhin E, Rüb U, Bratzke H, Del Tredici K
Cell Tissue Res 2004 Oct;318(1):121-34. Epub 2004 Aug 24 doi: 10.1007/s00441-004-0956-9. PMID: 15338272
Rodier PM, Ingram JL, Tisdale B, Croog VJ
Reprod Toxicol 1997 Mar-Jun;11(2-3):417-22. doi: 10.1016/s0890-6238(97)80001-u. PMID: 9100317

Clinical prediction guides

Walter J, Bolognin S, Poovathingal SK, Magni S, Gérard D, Antony PMA, Nickels SL, Salamanca L, Berger E, Smits LM, Grzyb K, Perfeito R, Hoel F, Qing X, Ohnmacht J, Bertacchi M, Jarazo J, Ignac T, Monzel AS, Gonzalez-Cano L, Krüger R, Sauter T, Studer M, de Almeida LP, Tronstad KJ, Sinkkonen L, Skupin A, Schwamborn JC
Cell Rep 2021 Oct 19;37(3):109864. doi: 10.1016/j.celrep.2021.109864. PMID: 34686322
Kim EY, Sung YH, Lee J
Br J Radiol 2019 Sep;92(1101):20180842. Epub 2019 Jun 5 doi: 10.1259/bjr.20180842. PMID: 31067082Free PMC Article
Lammel S, Lim BK, Malenka RC
Neuropharmacology 2014 Jan;76 Pt B(0 0):351-9. Epub 2013 Apr 8 doi: 10.1016/j.neuropharm.2013.03.019. PMID: 23578393Free PMC Article
Field TS, Benavente OR
Rev Neurol Dis 2011;8(1-2):30-8. PMID: 21769069
Braak H, Ghebremedhin E, Rüb U, Bratzke H, Del Tredici K
Cell Tissue Res 2004 Oct;318(1):121-34. Epub 2004 Aug 24 doi: 10.1007/s00441-004-0956-9. PMID: 15338272

Recent systematic reviews

Ogut E, Kaya P, Karakas O, Yildiz E, Sozge I
Acta Neurol Belg 2024 Dec;124(6):1767-1784. Epub 2024 Apr 7 doi: 10.1007/s13760-024-02533-w. PMID: 38583111
Bauman MMJ, Bhandarkar AR, Zheng CR, Riviere-Cazaux C, Beeler CJ, Naylor RM, Daniels DJ
Neurosurg Rev 2022 Apr;45(2):1031-1039. Epub 2021 Oct 5 doi: 10.1007/s10143-021-01653-8. PMID: 34609665
Klaes A, Reckziegel E, Franca MC Jr, Rezende TJ, Vedolin LM, Jardim LB, Saute JA
AJNR Am J Neuroradiol 2016 Aug;37(8):1405-12. Epub 2016 May 12 doi: 10.3174/ajnr.A4760. PMID: 27173364Free PMC Article
Shao N, Yang J, Shang H
Neurosci Lett 2015 Feb 5;587:79-86. Epub 2014 Dec 5 doi: 10.1016/j.neulet.2014.12.007. PMID: 25484255
Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ
Neuroradiology 2015 Feb;57(2):113-38. Epub 2014 Oct 23 doi: 10.1007/s00234-014-1431-2. PMID: 25339235

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