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Superior cerebellar dysplasia

MedGen UID:
1704218
Concept ID:
C5209268
Anatomical Abnormality
HPO: HP:0020185

Definition

Abnormal morphological development of the superior part of the cerebellum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSuperior cerebellar dysplasia

Conditions with this feature

Joubert syndrome 30
MedGen UID:
1613861
Concept ID:
C4539937
Disease or Syndrome

Professional guidelines

PubMed

Orecchia PM, Clagett GP, Youkey JR, Brigham RA, Fisher DF, Fry RF, McDonald PT, Collins GJ, Rich NM
J Vasc Surg 1985 Jan;2(1):158-64. doi: 10.1067/mva.1985.avs0020158. PMID: 3965749

Recent clinical studies

Etiology

Lopriore P, Vista M, Maritato P, Caldarazzo Ienco E, Bassani L, Natale G, Tessa A, Santorelli FM, Orsucci D
Neurol Sci 2024 Jun;45(6):2853-2857. Epub 2024 Jan 23 doi: 10.1007/s10072-024-07331-z. PMID: 38253744
Dubner SE, Rickerich L, Bruckert L, Poblaciones RV, Sproul D, Scala M, Feldman HM, Travis KE
Pediatr Res 2024 Mar;95(4):1028-1034. Epub 2023 Nov 29 doi: 10.1038/s41390-023-02903-9. PMID: 38030826
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Lee JM, Choi YH, Hong J, Kim NY, Kim EB, Lim JS, Kim JD, Park HK, Lee HJ
Neonatology 2019;116(2):163-170. Epub 2019 May 21 doi: 10.1159/000499487. PMID: 31112968
Romano S, Boddaert N, Desguerre I, Hubert L, Salomon R, Seidenwurm D, Bahi-Buisson N, Nabbout R, Sonigo P, Lyonnet S, Brunelle F, Munnich A, de Lonlay P
Neuropediatrics 2006 Feb;37(1):42-5. doi: 10.1055/s-2006-923838. PMID: 16541367

Diagnosis

Raghuveer K, Dikkatwar V, Joshi MV, Shetty DS
BMJ Case Rep 2023 Nov 22;16(11) doi: 10.1136/bcr-2022-253556. PMID: 37993144Free PMC Article
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Hwang M, Park H, Baek HJ, Ryu KH, Cho E, Yoon S
Curr Med Imaging 2022;18(1):91-94. doi: 10.2174/1573405617666210608155904. PMID: 34102983
Ceschin R, Zahner A, Reynolds W, Gaesser J, Zuccoli G, Lo CW, Gopalakrishnan V, Panigrahy A
Neuroimage 2018 Sep;178:183-197. Epub 2018 May 21 doi: 10.1016/j.neuroimage.2018.05.049. PMID: 29793060Free PMC Article
Okumura A, Lee T, Ikeno M, Shimojima K, Kajino K, Inoue Y, Yoshikawa N, Suganuma H, Suzuki M, Hisata K, Shoji H, Takanashi J, Barkovich AJ, Shimizu T, Yamamoto T, Hayashi M
Brain Dev 2012 Nov;34(10):881-5. Epub 2012 Apr 7 doi: 10.1016/j.braindev.2012.03.003. PMID: 22483529

Therapy

Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E
J Child Neurol 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. PMID: 10385844

Prognosis

Raghuveer K, Dikkatwar V, Joshi MV, Shetty DS
BMJ Case Rep 2023 Nov 22;16(11) doi: 10.1136/bcr-2022-253556. PMID: 37993144Free PMC Article
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Okumura A, Lee T, Ikeno M, Shimojima K, Kajino K, Inoue Y, Yoshikawa N, Suganuma H, Suzuki M, Hisata K, Shoji H, Takanashi J, Barkovich AJ, Shimizu T, Yamamoto T, Hayashi M
Brain Dev 2012 Nov;34(10):881-5. Epub 2012 Apr 7 doi: 10.1016/j.braindev.2012.03.003. PMID: 22483529
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J
Brain 2010 Nov;133(11):3194-209. Epub 2010 Oct 7 doi: 10.1093/brain/awq259. PMID: 20929962
Lee SK, Kim DI, Kim J, Kim DJ, Kim HD, Kim DS, Mori S
Radiographics 2005 Jan-Feb;25(1):53-65; discussion 66-8. doi: 10.1148/rg.251045085. PMID: 15653586

Clinical prediction guides

Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J
Brain 2010 Nov;133(11):3194-209. Epub 2010 Oct 7 doi: 10.1093/brain/awq259. PMID: 20929962
Kumada S, Tsuchiya K, Takahashi M, Takesue M, Shiotsu H, Nomura Y, Segawa M, Ikeda K, Hayashi M
Acta Neuropathol 2000 Feb;99(2):209-13. doi: 10.1007/pl00007426. PMID: 10672329
Sztriha L, Al-Gazali LI, Aithala GR, Nork M
Pediatr Neurol 1999 Apr;20(4):274-81. doi: 10.1016/s0887-8994(98)00154-4. PMID: 10328276

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