Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?

H.M. Pascoe, J.Y.-M. Yang, J. Chen, A.M. Fink and S. Kumbla
American Journal of Neuroradiology December 2019, DOI: https://doi.org/10.3174/ajnr.A6369
H.M. Pascoe
aFrom the Departments of Medical Imaging (H.M.P., A.M.F., S.K.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for H.M. Pascoe
J.Y.-M. Yang
bNeurosurgery (J.Y.-M.Y.), The Royal Children’s Hospital, Parkville, Victoria, Australia
cNeuroscience Research (J.Y.-M.Y.)
dDevelopmental Imaging (J.Y.-M.Y., J.C.), Murdoch Children’s Research Institute, Parkville, Victoria, Australia
eDepartment of Paediatrics (J.Y.-M.Y.), University of Melbourne, Parkville, Victoria, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for J.Y.-M. Yang
J. Chen
dDevelopmental Imaging (J.Y.-M.Y., J.C.), Murdoch Children’s Research Institute, Parkville, Victoria, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for J. Chen
A.M. Fink
aFrom the Departments of Medical Imaging (H.M.P., A.M.F., S.K.)
fDepartment of Perinatal Medicine (A.M.F.), Mercy Hospital for Women, Heidelberg, Victoria, Australia
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A.M. Fink
S. Kumbla
aFrom the Departments of Medical Imaging (H.M.P., A.M.F., S.K.)
gDepartment of Diagnostic Imaging (S.K.), Monash Health, Clayton, Victoria, Australia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S. Kumbla
  • Article
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Kao SC,
    2. Waziri MH,
    3. Smith WL, et al
    . MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol 1989;153:565–69 doi:10.2214/ajr.153.3.565 pmid:2763957
    CrossRefPubMed
  2. 2.↵
    1. Pauli RM
    . Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 2019;14:1 doi:10.1186/s13023-018-0972-6 pmid:30606190
    CrossRefPubMed
  3. 3.↵
    1. Calandrelli R,
    2. Panfili M,
    3. D’Apolito G, et al
    . Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology 2017;59:1031–41 doi:10.1007/s00234-017-1887-y pmid:28819680
    CrossRefPubMed
  4. 4.↵
    1. Manikkam SA,
    2. Chetcuti K,
    3. Howell KB, et al
    . Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3-related skeletal dysplasias. AJNR Am J Neuroradiol 2018;39:380–84 doi:10.3174/ajnr.A5468 pmid:29170271
    Abstract/FREE Full Text
  5. 5.↵
    1. Alqahtani E,
    2. Huisman TA,
    3. Boltshauser E, et al
    . Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol 2014;18:211–17 doi:10.1016/j.ejpn.2013.11.014 pmid:24423630
    CrossRefPubMed
  6. 6.↵
    1. Poretti A,
    2. Snow J,
    3. Summers AC, et al
    . Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet 2017;54:521–29 doi:10.1136/jmedgenet-2016-104425 pmid:28087721
    Abstract/FREE Full Text
  7. 7.↵
    1. Shiohama T,
    2. Fujii K,
    3. Miyashita T, et al
    . Brain morphology in children with nevoid basal cell carcinoma syndrome. Am J Med Genet A 2017;173:946–52 doi:10.1002/ajmg.a.38115 pmid:28328116
    CrossRefPubMed
  8. 8.↵
    1. Schaefer GB,
    2. Bodensteiner JB,
    3. Buehler BA, et al
    . The neuroimaging findings in Sotos syndrome. Am J Med Genet 1997;68:462–65 doi:10.1002/(sici)1096-8628(19970211)68:4<462::aid-ajmg18>3.0.co;2-q pmid:9021022
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Gripp KW,
    2. Hopkins E,
    3. Doyle D, et al
    . High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet A 2010;152:1161–68 doi:10.1002/ajmg.a.33391 pmid:20425820
    CrossRefPubMed
  10. 10.↵
    1. Jones W,
    2. Hesselink J,
    3. Courchesne E, et al
    . Cerebellar abnormalities in infants and toddlers with Williams syndrome. Dev Med Child Neurol 2002;44:688–94 doi:10.1017/s0012162201002766 pmid:12418794
    CrossRefPubMedWeb of Science
  11. 11.↵
    1. van der Knaap MS,
    2. Salomons GS,
    3. Li R, et al
    . Unusual variants of Alexander’s disease. Ann Neurol 2005;57:327–38 doi:10.1002/ana.20381 pmid:15732098
    CrossRefPubMedWeb of Science
  12. 12.↵
    1. Kau T,
    2. Karlo C,
    3. Güngör T, et al
    . Increased cerebellar volume in the early stage of fucosidosis: a case control study. Neuroradiology 2011;53:509–16 doi:10.1007/s00234-011-0855-1 pmid:21384124
    CrossRefPubMed
  13. 13.↵
    1. Bodensteiner JB,
    2. Schaefer GB,
    3. Keller GM, et al
    . Macrocerebellum: neuroimaging and clinical features of a newly recognized condition. J Child Neurol 1997;12:365–68 doi:10.1177/088307389701200605 pmid:9309519
    CrossRefPubMedWeb of Science
  14. 14.↵
    1. D’Arco F,
    2. Ugga L,
    3. Caranci F, et al
    . Isolated macrocerebellum: description of six cases and literature review. Quant Imaging Med Surg 2016;6:496–503 doi:10.21037/qims.2016.06.10 pmid:27942468
    CrossRefPubMed
  15. 15.↵
    1. Izbudak I,
    2. Acer N,
    3. Poretti A, et al
    . Macrocerebellum: volumetric and diffusion tensor imaging analysis. Turk Neurosurg 2015;25:948–53 pmid:26617148
    PubMed
  16. 16.↵
    1. Beare RJ,
    2. Chen J,
    3. Kelly CE, et al
    . Neonatal brain tissue classification with morphological adaptation and unified segmentation. Front Neuroinform 2016;10:12 doi:10.3389/fninf.2016.00012 pmid:27065840
    CrossRefPubMed
  17. 17.↵
    1. Fischl B
    . FreeSurfer. Neuroimage 2012;62:774–81 doi:10.1016/j.neuroimage.2012.01.021 pmid:22248573
    CrossRefPubMedWeb of Science
  18. 18.↵
    1. Ashburner J,
    2. Friston KJ
    . Unified segmentation. Neuroimage 2005;26:839–51 doi:10.1016/j.neuroimage.2005.02.018 pmid:15955494
    CrossRefPubMedWeb of Science
  19. 19.↵
    1. Poretti A,
    2. Mall V,
    3. Smitka M, et al
    . Macrocerebellum: significance and pathogenic considerations. Cerebellum 2012;11:1026–36 doi:10.1007/s12311-012-0379-1 pmid:22528964
    CrossRefPubMed
  20. 20.↵
    1. Hevner RF
    . The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 2005;110:208–21 doi:10.1007/s00401-005-1059-8 pmid:16133544
    CrossRefPubMedWeb of Science
  21. 21.↵
    1. Zhang X,
    2. Ibrahimi OA,
    3. Olsen SK, et al
    . Receptor specificity of the fibroblast growth factor family: the complete mammalian FGF family. J Biol Chem 2006;281:15694–700 doi:10.1074/jbc.M601252200 pmid:16597617
    Abstract/FREE Full Text
  22. 22.↵
    1. Thomson RE,
    2. Kind PC,
    3. Graham NA, et al
    . FGF receptor 3 activation promotes selective growth and expansion of occipitotemporal cortex. Neural Dev 2009;4:4 doi:10.1186/1749-8104-4-4 pmid:19192266
    CrossRefPubMed
  23. 23.↵
    1. Yaguchi Y,
    2. Yu T,
    3. Ahmed MU, et al
    . Fibroblast growth factor (FGF) gene expression in the developing cerebellum suggests multiple roles for FGF signaling during cerebellar morphogenesis and development. Dev Dyn 2009;238:2058–72 doi:10.1002/dvdy.22013 pmid:19544582
    CrossRefPubMed
  24. 24.↵
    1. Shazeeb MS,
    2. Cox MK,
    3. Gupta A, et al
    . Skeletal characterization of the FGFR3 mouse model of achondroplasia using micro-CT and MRI volumetric imaging. Sci Rep 2018;8:469 doi:10.1038/s41598-017-18801-0 pmid:29323153
    CrossRefPubMed
PreviousNext
Back to top
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
H.M. Pascoe, J.Y.-M. Yang, J. Chen, A.M. Fink, S. Kumbla
Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?
American Journal of Neuroradiology Dec 2019, DOI: 10.3174/ajnr.A6369

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?
H.M. Pascoe, J.Y.-M. Yang, J. Chen, A.M. Fink, S. Kumbla
American Journal of Neuroradiology Dec 2019, DOI: 10.3174/ajnr.A6369
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • DISCUSSION
    • CONCLUSIONS
    • Acknowledgments
    • Footnotes
    • References
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Crossref
  • Google Scholar

This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.

More in this TOC Section

  • FRACTURE MR in Congenital Vertebral Anomalies
  • Comparing MRI Perfusion in Pediatric Brain Tumors
  • Sodium MRI in Pediatric Brain Tumors
Show more Pediatric Neuroimaging

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire