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<meta name="DC.Title" content="Neuroimaging Findings in Moebius Sequence" />
<meta name="DC.Identifier" content="10.3174/ajnr.A6028" />
<meta name="DC.Date" content="2019-05-01" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients scanned with MR imaging.

MATERIALS AND METHODS: An observational cross-sectional study was performed to assess brain MR imaging findings in 38 patients with Moebius syndrome studied between 2013 and 2016.

RESULTS: Retrospective analysis of MR imaging studies showed flattening of the floor of the fourth ventricle floor secondary to a bilateral absent facial colliculus in 38 patients (100%) and unilateral absence in 1. A hypoplastic pons was found in 23 patients (60.5%). Mesencephalic malformations consisted of tectal beaking in 15 patients (39.5%) and increased anteroposterior midbrain diameter with a shallow interpeduncular cistern in 12 (31.6%). Infratentorial arachnoid cysts were found in 5 patients (13.2%), and cerebellar vermis hypoplasia, in 2 (5.3%). Supratentorial findings included the following: thalamic fusion (26.3%), periventricular nodular heterotopias (26.3%), ventriculomegaly (26.3%), callosal abnormalities (23.7%), and hippocampal malrotations (23.7%).

CONCLUSIONS: Findings seen in this large patient cohort agreed with previously published reports. Flattening of the fourth ventricle floor secondary to a bilaterally absent facial colliculus was the most frequent MR imaging finding. The presence of other brain stem and cerebellar malformations as well as supratentorial abnormalities may help explain clinical symptoms and achieve a correct diagnosis." />
<meta name="DC.Contributor" content="D.A. Herrera" />
<meta name="DC.Contributor" content="N.O. Ruge" />
<meta name="DC.Contributor" content="M.M. Florez" />
<meta name="DC.Contributor" content="S.A. Vargas" />
<meta name="DC.Contributor" content="M. Ochoa-Escudero" />
<meta name="DC.Contributor" content="M. Castillo" />
<meta name="article:published_time" content="2019-05-01" />
<meta name="article:section" content="Pediatrics" />
<meta name="citation_title" content="Neuroimaging Findings in Moebius Sequence" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients scanned with MR imaging.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;An observational cross-sectional study was performed to assess brain MR imaging findings in 38 patients with Moebius syndrome studied between 2013 and 2016.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;Retrospective analysis of MR imaging studies showed flattening of the floor of the fourth ventricle floor secondary to a bilateral absent facial colliculus in 38 patients (100%) and unilateral absence in 1. A hypoplastic pons was found in 23 patients (60.5%). Mesencephalic malformations consisted of tectal beaking in 15 patients (39.5%) and increased anteroposterior midbrain diameter with a shallow interpeduncular cistern in 12 (31.6%). Infratentorial arachnoid cysts were found in 5 patients (13.2%), and cerebellar vermis hypoplasia, in 2 (5.3%). Supratentorial findings included the following: thalamic fusion (26.3%), periventricular nodular heterotopias (26.3%), ventriculomegaly (26.3%), callosal abnormalities (23.7%), and hippocampal malrotations (23.7%).&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Findings seen in this large patient cohort agreed with previously published reports. Flattening of the fourth ventricle floor secondary to a bilaterally absent facial colliculus was the most frequent MR imaging finding. The presence of other brain stem and cerebellar malformations as well as supratentorial abnormalities may help explain clinical symptoms and achieve a correct diagnosis.&lt;/p&gt;" />
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<meta name="twitter:title" content="Neuroimaging Findings in Moebius Sequence" />
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<meta name="twitter:image" content="http://ajnr-stage2.stage.highwire.org/sites/default/files/highwire/ajnr/40/5.cover-source.jpg" />
<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients scanned with MR imaging.

MATERIALS AND METHODS: An observational cross-sectional study was performed to assess brain MR imaging findings in 38 patients with Moebius syndrome studied between 2013 and 2016.

RESULTS: Retrospective analysis of MR imaging studies showed flattening of the floor of the fourth ventricle floor secondary to a bilateral absent facial colliculus in 38 patients (100%) and unilateral absence in 1. A hypoplastic pons was found in 23 patients (60.5%). Mesencephalic malformations consisted of tectal beaking in 15 patients (39.5%) and increased anteroposterior midbrain diameter with a shallow interpeduncular cistern in 12 (31.6%). Infratentorial arachnoid cysts were found in 5 patients (13.2%), and cerebellar vermis hypoplasia, in 2 (5.3%). Supratentorial findings included the following: thalamic fusion (26.3%), periventricular nodular heterotopias (26.3%), ventriculomegaly (26.3%), callosal abnormalities (23.7%), and hippocampal malrotations (23.7%).

CONCLUSIONS: Findings seen in this large patient cohort agreed with previously published reports. Flattening of the fourth ventricle floor secondary to a bilaterally absent facial colliculus was the most frequent MR imaging finding. The presence of other brain stem and cerebellar malformations as well as supratentorial abnormalities may help explain clinical symptoms and achieve a correct diagnosis." />
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<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients scanned with MR imaging.

MATERIALS AND METHODS: An observational cross-sectional study was performed to assess brain MR imaging findings in 38 patients with Moebius syndrome studied between 2013 and 2016.

RESULTS: Retrospective analysis of MR imaging studies showed flattening of the floor of the fourth ventricle floor secondary to a bilateral absent facial colliculus in 38 patients (100%) and unilateral absence in 1. A hypoplastic pons was found in 23 patients (60.5%). Mesencephalic malformations consisted of tectal beaking in 15 patients (39.5%) and increased anteroposterior midbrain diameter with a shallow interpeduncular cistern in 12 (31.6%). Infratentorial arachnoid cysts were found in 5 patients (13.2%), and cerebellar vermis hypoplasia, in 2 (5.3%). Supratentorial findings included the following: thalamic fusion (26.3%), periventricular nodular heterotopias (26.3%), ventriculomegaly (26.3%), callosal abnormalities (23.7%), and hippocampal malrotations (23.7%).

CONCLUSIONS: Findings seen in this large patient cohort agreed with previously published reports. Flattening of the fourth ventricle floor secondary to a bilaterally absent facial colliculus was the most frequent MR imaging finding. The presence of other brain stem and cerebellar malformations as well as supratentorial abnormalities may help explain clinical symptoms and achieve a correct diagnosis." />
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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">Neuroimaging Findings in Moebius Sequence</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">D.A. Herrera</span>, <span class="highwire-citation-author" data-delta="1">N.O. Ruge</span>, <span class="highwire-citation-author" data-delta="2">M.M. Florez</span>, <span class="highwire-citation-author" data-delta="3">S.A. Vargas</span>, <span class="highwire-citation-author" data-delta="4">M. Ochoa-Escudero</span> and <span class="highwire-citation-author" data-delta="5">M. Castillo</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">May 2019,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">40 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(5) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">862-865; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A6028 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-67521--6373256851" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">D.A. Herrera </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Radiology (D.A.H., M.M.F., S.A.V.)</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.A.%2BHerrera%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=Herrera%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.A.%2BHerrera%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/0000-0001-6043-6998" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for D.A. Herrera</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">N.O. Ruge </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Grupo de Neurociencias (N.O.R.), Universidad de Antioquia, Medellín, Colombia</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=N.O.%2BRuge%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=Ruge%20N&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%3AN.O.%2BRuge%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/0000-0003-3364-2205" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for N.O. 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Florez </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Radiology (D.A.H., M.M.F., S.A.V.)</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=M.M.%2BFlorez%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=Florez%20M&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%3AM.M.%2BFlorez%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/0000-0002-4584-3883" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for M.M. Florez</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">S.A. Vargas </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Radiology (D.A.H., M.M.F., S.A.V.)</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.A.%2BVargas%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=Vargas%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.A.%2BVargas%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/0000-0002-8189-758X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for S.A. Vargas</a></li></ul></div><div class="author-tooltip-4"><div class="author-tooltip-name">M. Ochoa-Escudero </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Department of Radiology (M.O.-E.), Hospital Pablo Tobón Uribe, Medellín, Colombia</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=M.%2BOchoa-Escudero%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=Ochoa-Escudero%20M&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%3AM.%2BOchoa-Escudero%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/0000-0003-3933-3622" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for M. 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