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<meta name="DC.Title" content="Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?" />
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<meta name="DC.Description" content="SUMMARY: Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene ( FGFR3 ). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere enlargement (inferior and superior extension, wrapping around the brainstem); an effaced retro- and infravermian cerebellar subarachnoid CSF space; a shortened midbrain; distortion of the tectal plate; and mass effect on the brainstem. All MR imaging studies exhibited some of these findings. Quantitative analysis confirmed an increased cerebellar volume compared with age- and sex-matched controls. We hypothesized that this may be due to direct effects of the FGFR3 mutation on cerebellar morphogenesis.

PCF
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<meta name="DC.Contributor" content="H.M. Pascoe" />
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&lt;p&gt;Achondroplasia is the result of a mutation in the &lt;i&gt;fibroblast growth factor receptor 3&lt;/i&gt; gene (&lt;i&gt;FGFR3&lt;/i&gt;). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere enlargement (inferior and superior extension, wrapping around the brainstem); an effaced retro- and infravermian cerebellar subarachnoid CSF space; a shortened midbrain; distortion of the tectal plate; and mass effect on the brainstem. All MR imaging studies exhibited some of these findings. Quantitative analysis confirmed an increased cerebellar volume compared with age- and sex-matched controls. We hypothesized that this may be due to direct effects of the &lt;i&gt;FGFR3&lt;/i&gt; mutation on cerebellar morphogenesis.&lt;/p&gt;" />
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<meta name="twitter:title" content="Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?" />
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<meta name="twitter:description" content="SUMMARY: Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene ( FGFR3 ). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere enlargement (inferior and superior extension, wrapping around the brainstem); an effaced retro- and infravermian cerebellar subarachnoid CSF space; a shortened midbrain; distortion of the tectal plate; and mass effect on the brainstem. All MR imaging studies exhibited some of these findings. Quantitative analysis confirmed an increased cerebellar volume compared with age- and sex-matched controls. We hypothesized that this may be due to direct effects of the FGFR3 mutation on cerebellar morphogenesis.

PCF
:   posterior cranial fossa
PCFBV
:   posterior cranial fossa brain volume
STBV
:   supratentorial brain volume" />
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<meta name="og-description" property="og:description" content="SUMMARY: Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene ( FGFR3 ). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere enlargement (inferior and superior extension, wrapping around the brainstem); an effaced retro- and infravermian cerebellar subarachnoid CSF space; a shortened midbrain; distortion of the tectal plate; and mass effect on the brainstem. All MR imaging studies exhibited some of these findings. Quantitative analysis confirmed an increased cerebellar volume compared with age- and sex-matched controls. We hypothesized that this may be due to direct effects of the FGFR3 mutation on cerebellar morphogenesis.

PCF
:   posterior cranial fossa
PCFBV
:   posterior cranial fossa brain volume
STBV
:   supratentorial brain volume" />
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      <h1 class="highwire-cite-title" id="page-title">Macrocerebellum in Achondroplasia: A Further CNS Manifestation of <em>FGFR3</em> Mutations?</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">H.M. Pascoe</span>, <span class="highwire-citation-author" data-delta="1">J.Y.-M. Yang</span>, <span class="highwire-citation-author" data-delta="2">J. Chen</span>, <span class="highwire-citation-author" data-delta="3">A.M. Fink</span> and <span class="highwire-citation-author" data-delta="4">S. Kumbla</span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">February 2020,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">41 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(2) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">338-342; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A6369 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-73076--61032622120" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">H.M. Pascoe </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Medical Imaging (H.M.P., A.M.F., S.K.)</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=H.M.%2BPascoe%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Pascoe%20H&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AH.M.%2BPascoe%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0002-9500-2978" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for H.M. Pascoe</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">J.Y.-M. Yang </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Neurosurgery (J.Y.-M.Y.), The Royal Children’s Hospital, Parkville, Victoria, Australia</div><div class='author-affiliation'><span class='nlm-sup'>c</span>Neuroscience Research (J.Y.-M.Y.)</div><div class='author-affiliation'><span class='nlm-sup'>d</span>Developmental Imaging (J.Y.-M.Y., J.C.), Murdoch Children’s Research Institute, Parkville, Victoria, Australia</div><div class='author-affiliation'><span class='nlm-sup'>e</span>Department of Paediatrics (J.Y.-M.Y.), University of Melbourne, Parkville, Victoria, Australia</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=J.Y.-M.%2BYang%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Yang%20J&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AJ.Y.-M.%2BYang%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0003-4081-7157" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for J.Y.-M. Yang</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">J. Chen </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>d</span>Developmental Imaging (J.Y.-M.Y., J.C.), Murdoch Children’s Research Institute, Parkville, Victoria, Australia</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=J.%2BChen%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Chen%20J&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AJ.%2BChen%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0002-5149-1781" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for J. Chen</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">A.M. Fink </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Medical Imaging (H.M.P., A.M.F., S.K.)</div><div class='author-affiliation'><span class='nlm-sup'>f</span>Department of Perinatal Medicine (A.M.F.), Mercy Hospital for Women, Heidelberg, Victoria, Australia</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=A.M.%2BFink%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Fink%20A&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AA.M.%2BFink%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0001-6531-1908" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for A.M. 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Kumbla </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Departments of Medical Imaging (H.M.P., A.M.F., S.K.)</div><div class='author-affiliation'><span class='nlm-sup'>g</span>Department of Diagnostic Imaging (S.K.), Monash Health, Clayton, Victoria, Australia.</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=S.%2BKumbla%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Kumbla%20S&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AS.%2BKumbla%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0003-3344-3038" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for S. 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