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Abnormal metencephalon morphology

MedGen UID:
869015
Concept ID:
C4023432
Anatomical Abnormality
Synonym: Abnormality of the metencephalon
 
HPO: HP:0011283

Definition

An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. [from HPO]

Term Hierarchy

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

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
Alves CAPF, Fragoso DC, Gonçalves FG, Marussi VH, Amaral LLFD
Top Magn Reson Imaging 2018 Aug;27(4):275-302. doi: 10.1097/RMR.0000000000000175. PMID: 30086112

Recent clinical studies

Etiology

Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
McConnachie DJ, Stow JL, Mallett AJ
Am J Kidney Dis 2021 Mar;77(3):410-419. Epub 2020 Oct 9 doi: 10.1053/j.ajkd.2020.08.012. PMID: 33039432
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
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

Diagnosis

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
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
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
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
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

Therapy

Öz G, Harding IH, Krahe J, Reetz K
Curr Opin Neurol 2020 Aug;33(4):451-461. doi: 10.1097/WCO.0000000000000834. PMID: 32657886Free PMC Article
Jo S, Yarishkin O, Hwang YJ, Chun YE, Park M, Woo DH, Bae JY, Kim T, Lee J, Chun H, Park HJ, Lee DY, Hong J, Kim HY, Oh SJ, Park SJ, Lee H, Yoon BE, Kim Y, Jeong Y, Shim I, Bae YC, Cho J, Kowall NW, Ryu H, Hwang E, Kim D, Lee CJ
Nat Med 2014 Aug;20(8):886-96. Epub 2014 Jun 29 doi: 10.1038/nm.3639. PMID: 24973918Free PMC Article
Desai J, Mitchell WG
J Child Neurol 2012 Nov;27(11):1482-8. Epub 2012 Jul 17 doi: 10.1177/0883073812450318. PMID: 22805251
Lee DA, Lopez-Alberola R, Bhattacharjee M
Neurologist 2003 Mar;9(2):99-109. doi: 10.1097/01.nrl.0000051441.03160.e0. PMID: 12808372
Blakemore SJ, Wolpert D, Frith C
Neuroreport 2000 Aug 3;11(11):R11-6. doi: 10.1097/00001756-200008030-00002. PMID: 10943682

Prognosis

Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Bertini E, Zanni G, Boltshauser E
Handb Clin Neurol 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. PMID: 29891079
Poretti A, Boltshauser E, Huisman TA
Neuroimaging Clin N Am 2016 Aug;26(3):341-57. doi: 10.1016/j.nic.2016.03.005. PMID: 27423798
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article

Clinical prediction guides

Bologna M, Berardelli A
Handb Clin Neurol 2018;155:259-272. doi: 10.1016/B978-0-444-64189-2.00017-2. PMID: 29891064
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
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

Recent systematic reviews

Shobeiri P, Hosseini Shabanan S, Haghshomar M, Khanmohammadi S, Fazeli S, Sotoudeh H, Kamali A
Cerebellum 2024 Apr;23(2):778-801. Epub 2023 Jun 8 doi: 10.1007/s12311-023-01573-x. PMID: 37291229
Zakaria RBM, Malta M, Pelletier F, Addour-Boudrahem N, Pinchefsky E, Martin CS, Srour M
Cerebellum 2024 Apr;23(2):418-430. Epub 2023 Mar 27 doi: 10.1007/s12311-023-01544-2. PMID: 36971923
Pietracupa S, Bologna M, Tommasin S, Berardelli A, Pantano P
Cerebellum 2022 Dec;21(6):1029-1051. Epub 2021 Oct 16 doi: 10.1007/s12311-021-01335-7. PMID: 34657271
Bolduc ME, Limperopoulos C
Dev Med Child Neurol 2009 Apr;51(4):256-67. Epub 2009 Feb 3 doi: 10.1111/j.1469-8749.2008.03224.x. PMID: 19191827
Baldaçara L, Borgio JG, Lacerda AL, Jackowski AP
Braz J Psychiatry 2008 Sep;30(3):281-9. doi: 10.1590/s1516-44462008000300016. PMID: 18833430

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