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<meta name="DC.Title" content="Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome" />
<meta name="DC.Identifier" content="10.3174/ajnr.A6280" />
<meta name="DC.Date" content="2019-12-01" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in 2 patients with CHARGE, confirmed by postmortem examination. We sought to determine the prevalence and define the characteristics of similar findings on MR imaging for a cohort of patients with CHARGE syndrome.

MATERIALS AND METHODS: We performed a retrospective, observational, cross-sectional study to assess the prevalence and characteristic features of cerebellar heterotopias in 35 patients with CHARGE syndrome with available brain MR imaging studies, as well as to evaluate additional features of cerebellar dysgenesis.

RESULTS: Cerebellar heterotopias were identified in 27/35 (77%) patients with CHARGE, characteristic in both location and appearance. Additional features of cerebellar dysgenesis were present in 31/34 evaluable patients (91%), including inferior vermian hypoplasia (90%), anteromedial rotation of the inferior tonsils (90%), and disorganized foliation of the cerebellar hemispheres (74%) or superior vermis (16%).

CONCLUSIONS: Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.

CHARGE
:   Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness" />
<meta name="DC.Contributor" content="J.N. Wright" />
<meta name="DC.Contributor" content="J. Rutledge" />
<meta name="DC.Contributor" content="D. Doherty" />
<meta name="DC.Contributor" content="F. Perez" />
<meta name="article:published_time" content="2019-12-01" />
<meta name="article:section" content="Pediatrics" />
<meta name="citation_title" content="Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in 2 patients with CHARGE, confirmed by postmortem examination. We sought to determine the prevalence and define the characteristics of similar findings on MR imaging for a cohort of patients with CHARGE syndrome.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;We performed a retrospective, observational, cross-sectional study to assess the prevalence and characteristic features of cerebellar heterotopias in 35 patients with CHARGE syndrome with available brain MR imaging studies, as well as to evaluate additional features of cerebellar dysgenesis.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;Cerebellar heterotopias were identified in 27/35 (77%) patients with CHARGE, characteristic in both location and appearance. Additional features of cerebellar dysgenesis were present in 31/34 evaluable patients (91%), including inferior vermian hypoplasia (90%), anteromedial rotation of the inferior tonsils (90%), and disorganized foliation of the cerebellar hemispheres (74%) or superior vermis (16%).&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.&lt;/p&gt;" />
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<meta name="twitter:title" content="Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in 2 patients with CHARGE, confirmed by postmortem examination. We sought to determine the prevalence and define the characteristics of similar findings on MR imaging for a cohort of patients with CHARGE syndrome.

MATERIALS AND METHODS: We performed a retrospective, observational, cross-sectional study to assess the prevalence and characteristic features of cerebellar heterotopias in 35 patients with CHARGE syndrome with available brain MR imaging studies, as well as to evaluate additional features of cerebellar dysgenesis.

RESULTS: Cerebellar heterotopias were identified in 27/35 (77%) patients with CHARGE, characteristic in both location and appearance. Additional features of cerebellar dysgenesis were present in 31/34 evaluable patients (91%), including inferior vermian hypoplasia (90%), anteromedial rotation of the inferior tonsils (90%), and disorganized foliation of the cerebellar hemispheres (74%) or superior vermis (16%).

CONCLUSIONS: Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.

CHARGE
:   Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness" />
<meta name="og-title" property="og:title" content="Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/40/12/2154" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in 2 patients with CHARGE, confirmed by postmortem examination. We sought to determine the prevalence and define the characteristics of similar findings on MR imaging for a cohort of patients with CHARGE syndrome.

MATERIALS AND METHODS: We performed a retrospective, observational, cross-sectional study to assess the prevalence and characteristic features of cerebellar heterotopias in 35 patients with CHARGE syndrome with available brain MR imaging studies, as well as to evaluate additional features of cerebellar dysgenesis.

RESULTS: Cerebellar heterotopias were identified in 27/35 (77%) patients with CHARGE, characteristic in both location and appearance. Additional features of cerebellar dysgenesis were present in 31/34 evaluable patients (91%), including inferior vermian hypoplasia (90%), anteromedial rotation of the inferior tonsils (90%), and disorganized foliation of the cerebellar hemispheres (74%) or superior vermis (16%).

CONCLUSIONS: Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.

CHARGE
:   Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness" />
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      <div class="highwire-cite-overline"><span  class="highwire-cite-metadata-article-type highwire-cite-metadata">Research Article</span><span class="separator-pipe"></span><span  class="highwire-cite-metadata-art-cat highwire-cite-metadata"><span class="wrapper">Pediatrics</span></span></div>
  
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      <h1 class="highwire-cite-title" id="page-title">Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">J.N. Wright</span>, <span class="highwire-citation-author" data-delta="1">J. Rutledge</span>, <span class="highwire-citation-author" data-delta="2">D. Doherty</span> and <span class="highwire-citation-author" data-delta="3">F. Perez</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">December 2019,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">40 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(12) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">2154-2160; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A6280 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-71925--61532861893" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">J.N. Wright </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 Radiology (J.N.W., F.P.)</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.N.%2BWright%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=Wright%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.N.%2BWright%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/0000-0002-6676-8253" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for J.N. Wright</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">J. Rutledge </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Department of Pathology (J.R.), Seattle Children’s Hospital, Seattle, Washington</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.%2BRutledge%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=Rutledge%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.%2BRutledge%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/0000-0001-7219-9977" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for J. 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Doherty </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Pediatrics, Divisions of Developmental and Genetic Medicine (D.D.), University of Washington and Seattle Children’s Hospital, Seattle, Washington</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=D.%2BDoherty%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=Doherty%20D&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%3AD.%2BDoherty%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/0000-0001-9377-028X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for D. 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      <div class="highwire-cite-title">Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome</div>  
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    	<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">Dec 2019, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">40 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(12) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">2154-2160; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A6280 </span></div>
  
  
  
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