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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

Genotype-phenotype correlates in Joubert syndrome: A review.
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
Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
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
Cerebellar Ataxia in Children: A Clinical and MRI Approach to the Differential Diagnosis.
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

Therapy

MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration.
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
GABA from reactive astrocytes impairs memory in mouse models of Alzheimer's disease.
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
Acute cerebellar ataxia, acute cerebellitis, and opsoclonus-myoclonus syndrome.
Desai J, Mitchell WG
J Child Neurol 2012 Nov;27(11):1482-8. Epub 2012 Jul 17 doi: 10.1177/0883073812450318. PMID: 22805251
Childhood autism: a circuit syndrome?
Lee DA, Lopez-Alberola R, Bhattacharjee M
Neurologist 2003 Mar;9(2):99-109. doi: 10.1097/01.nrl.0000051441.03160.e0. PMID: 12808372
Why can't you tickle yourself?
Blakemore SJ, Wolpert D, Frith C
Neuroreport 2000 Aug 3;11(11):R11-6. doi: 10.1097/00001756-200008030-00002. PMID: 10943682

Prognosis

Genotype-phenotype correlates in Joubert syndrome: A review.
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
Dandy-Walker Malformation.
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
Nonprogressive congenital ataxias.
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
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article

Clinical prediction guides

The cerebellum and dystonia.
Bologna M, Berardelli A
Handb Clin Neurol 2018;155:259-272. doi: 10.1016/B978-0-444-64189-2.00017-2. PMID: 29891064
The basal ganglia and the cerebellum: nodes in an integrated network.
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Brainstem and cerebellar cavernous malformations.
Atwal GS, Sarris CE, Spetzler RF
Handb Clin Neurol 2017;143:291-295. doi: 10.1016/B978-0-444-63640-9.00028-X. PMID: 28552152
The neuroanatomy of autism - a developmental perspective.
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
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article

Recent systematic reviews

Cerebellar Microstructural Abnormalities in Obsessive-Compulsive Disorder (OCD): a Systematic Review of Diffusion Tensor Imaging Studies.
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
The Contribution of Neuroimaging to the Understanding of Essential Tremor Pathophysiology: a Systematic Review.
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
Biometric assessments of the posterior fossa by fetal MRI: A systematic review.
Mckinnon K, Kendall GS, Tann CJ, Dyet L, Sokolska M, Baruteau KP, Marlow N, Robertson NJ, Peebles D, Srinivasan L
Prenat Diagn 2021 Jan;41(2):258-270. Epub 2020 Dec 18 doi: 10.1002/pd.5874. PMID: 33251640
Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.
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
Cerebellum and psychiatric disorders.
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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