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Abnormal hindbrain morphology

MedGen UID:
866816
Concept ID:
C4021170
Anatomical Abnormality
Synonym: Hindbrain abnormalities
 
HPO: HP:0011282

Definition

An abnormality of the hindbrain, also known as the rhombencephalon. [from HPO]

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
Poretti A, Ashmawy R, Garzon-Muvdi T, Jallo GI, Huisman TA, Raybaud C
Neuropediatrics 2016 Oct;47(5):293-307. Epub 2016 Jun 23 doi: 10.1055/s-0036-1584563. PMID: 27337547

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

Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
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
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
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

Therapy

Lee SY, Du Y, Hassan AS, Brown E, Saadai P, Hirose S, Wang A, Farmer DL
Fetal Diagn Ther 2023;50(6):491-500. Epub 2023 Jul 1 doi: 10.1159/000531750. PMID: 37393899Free PMC Article
Han Y, Yan H, Shan X, Li H, Liu F, Xie G, Li P, Guo W
J Affect Disord 2023 Jun 15;331:207-216. Epub 2023 Mar 23 doi: 10.1016/j.jad.2023.03.065. PMID: 36965626
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
Adzick NS
Semin Pediatr Surg 2013 Feb;22(1):10-7. doi: 10.1053/j.sempedsurg.2012.10.003. PMID: 23395140Free 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

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
Accogli A, Addour-Boudrahem N, Srour M
Cerebellum 2021 Aug;20(4):631-658. Epub 2021 Feb 3 doi: 10.1007/s12311-020-01224-5. PMID: 33534089
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
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550

Clinical prediction guides

Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB
Brain 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. PMID: 35769015Free 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
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

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
Joyeux L, De Bie F, Danzer E, Russo FM, Javaux A, Peralta CFA, De Salles AAF, Pastuszka A, Olejek A, Van Mieghem T, De Coppi P, Moldenhauer J, Whitehead WE, Belfort MA, Lapa DA, Acacio GL, Devlieger R, Hirose S, Farmer DL, Van Calenbergh F, Adzick NS, Johnson MP, Deprest J
Ultrasound Obstet Gynecol 2020 Jun;55(6):730-739. doi: 10.1002/uog.20389. PMID: 31273862
Young RM, Shafa JS, Myseros JS
Pediatr Neurosurg 2015;50(5):235-42. Epub 2015 Sep 1 doi: 10.1159/000438487. PMID: 26329359
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
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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