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<meta name="DC.Title" content="Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review" />
<meta name="DC.Identifier" content="10.3174/ajnr.A5588" />
<meta name="DC.Date" content="2018-05-01" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome.

MATERIALS AND METHODS: A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11.2 deletion syndrome who had undergone CT or MR imaging of the temporal bones were included. Radiologic images were evaluated on predetermined parameters, including abnormalities of the ossicular chain, cochlea, semicircular canals, and vestibule.

RESULTS: There were 26 patients (52 ears) with a CT or MR imaging scan available. A dense stapes superstructure was found in 18 ears (36%), an incomplete partition type II was suspected in 12 cochleas (23%), the lateral semicircular canal was malformed with a small bony island in 17 ears (33%), and the lateral semicircular canal and vestibule were fused to a single cavity in 15 ears (29%).

CONCLUSIONS: Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal.

22q11DS
:   22q11.2 deletion syndrome
LSCC
:   lateral semicircular canal" />
<meta name="DC.Contributor" content="E. Verheij" />
<meta name="DC.Contributor" content="L. Elden" />
<meta name="DC.Contributor" content="T.B. Crowley" />
<meta name="DC.Contributor" content="F.A. Pameijer" />
<meta name="DC.Contributor" content="E.H. Zackai" />
<meta name="DC.Contributor" content="D.M. McDonald-McGinn" />
<meta name="DC.Contributor" content="H.G.X.M. Thomeer" />
<meta name="article:published_time" content="2018-05-01" />
<meta name="article:section" content="Head &amp;amp; Neck" />
<meta name="citation_title" content="Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11.2 deletion syndrome who had undergone CT or MR imaging of the temporal bones were included. Radiologic images were evaluated on predetermined parameters, including abnormalities of the ossicular chain, cochlea, semicircular canals, and vestibule.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;There were 26 patients (52 ears) with a CT or MR imaging scan available. A dense stapes superstructure was found in 18 ears (36%), an incomplete partition type II was suspected in 12 cochleas (23%), the lateral semicircular canal was malformed with a small bony island in 17 ears (33%), and the lateral semicircular canal and vestibule were fused to a single cavity in 15 ears (29%).&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal.&lt;/p&gt;" />
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<meta name="twitter:title" content="Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome.

MATERIALS AND METHODS: A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11.2 deletion syndrome who had undergone CT or MR imaging of the temporal bones were included. Radiologic images were evaluated on predetermined parameters, including abnormalities of the ossicular chain, cochlea, semicircular canals, and vestibule.

RESULTS: There were 26 patients (52 ears) with a CT or MR imaging scan available. A dense stapes superstructure was found in 18 ears (36%), an incomplete partition type II was suspected in 12 cochleas (23%), the lateral semicircular canal was malformed with a small bony island in 17 ears (33%), and the lateral semicircular canal and vestibule were fused to a single cavity in 15 ears (29%).

CONCLUSIONS: Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal.

22q11DS
:   22q11.2 deletion syndrome
LSCC
:   lateral semicircular canal" />
<meta name="og-title" property="og:title" content="Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/39/5/928" />
<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: The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome.

MATERIALS AND METHODS: A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11.2 deletion syndrome who had undergone CT or MR imaging of the temporal bones were included. Radiologic images were evaluated on predetermined parameters, including abnormalities of the ossicular chain, cochlea, semicircular canals, and vestibule.

RESULTS: There were 26 patients (52 ears) with a CT or MR imaging scan available. A dense stapes superstructure was found in 18 ears (36%), an incomplete partition type II was suspected in 12 cochleas (23%), the lateral semicircular canal was malformed with a small bony island in 17 ears (33%), and the lateral semicircular canal and vestibule were fused to a single cavity in 15 ears (29%).

CONCLUSIONS: Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal.

22q11DS
:   22q11.2 deletion syndrome
LSCC
:   lateral semicircular canal" />
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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">Head &amp; Neck</span></span></div>
  
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      <h1 class="highwire-cite-title" id="page-title">Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">E. Verheij</span>, <span class="highwire-citation-author" data-delta="1">L. Elden</span>, <span class="highwire-citation-author" data-delta="2">T.B. Crowley</span>, <span class="highwire-citation-author" data-delta="3">F.A. Pameijer</span>, <span class="highwire-citation-author" data-delta="4">E.H. Zackai</span>, <span class="highwire-citation-author" data-delta="5">D.M. McDonald-McGinn</span> and <span class="highwire-citation-author" data-delta="6">H.G.X.M. Thomeer</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 2018,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">39 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(5) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">928-934; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A5588 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-60847--61781123990" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">E. Verheij </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 Otorhinolaryngology–Head and Neck Surgery (E.V., H.G.X.M.T.)</div><div class='author-affiliation'><span class='nlm-sup'>b</span>Brain Center Rudolf Magnus (E.V., H.G.X.M.T.)</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=E.%2BVerheij%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=Verheij%20E&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%3AE.%2BVerheij%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/0000-0002-0630-2582" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for E. Verheij</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">L. Elden </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>d</span>Department of Otorhinolaryngology–Head and Neck Surgery (L.E.)</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=L.%2BElden%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=Elden%20L&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%3AL.%2BElden%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/0000-0002-3856-2063" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for L. Elden</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">T.B. Crowley </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>e</span>The 22q and You Center (T.B.C., E.H.Z., D.M.M.-M.)</div><div class='author-affiliation'><span class='nlm-sup'>f</span>Department of Human Genetics (T.B.C., E.H.Z., D.M.M.-M.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</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=T.B.%2BCrowley%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=Crowley%20T&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%3AT.B.%2BCrowley%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/0000-0002-3272-5458" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for T.B. Crowley</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">F.A. Pameijer </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Department of Radiology (F.A.P.), University Medical Center Utrecht, Utrecht, the Netherlands</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=F.A.%2BPameijer%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=Pameijer%20F&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%3AF.A.%2BPameijer%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/0000-0002-1624-9332" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for F.A. Pameijer</a></li></ul></div><div class="author-tooltip-4"><div class="author-tooltip-name">E.H. Zackai </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>e</span>The 22q and You Center (T.B.C., E.H.Z., D.M.M.-M.)</div><div class='author-affiliation'><span class='nlm-sup'>f</span>Department of Human Genetics (T.B.C., E.H.Z., D.M.M.-M.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</div><div class='author-affiliation'><span class='nlm-sup'>g</span>Department of Pediatrics (E.H.Z., D.M.M.-M.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.</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=E.H.%2BZackai%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=Zackai%20E&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%3AE.H.%2BZackai%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/0000-0002-8002-893X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for E.H. Zackai</a></li></ul></div><div class="author-tooltip-5"><div class="author-tooltip-name">D.M. McDonald-McGinn </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>e</span>The 22q and You Center (T.B.C., E.H.Z., D.M.M.-M.)</div><div class='author-affiliation'><span class='nlm-sup'>f</span>Department of Human Genetics (T.B.C., E.H.Z., D.M.M.-M.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</div><div class='author-affiliation'><span class='nlm-sup'>g</span>Department of Pediatrics (E.H.Z., D.M.M.-M.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.</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.M.%2BMcDonald-McGinn%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=McDonald-McGinn%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.M.%2BMcDonald-McGinn%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/0000-0003-4077-250X" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for D.M. McDonald-McGinn</a></li></ul></div><div class="author-tooltip-6"><div class="author-tooltip-name">H.G.X.M. Thomeer </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 Otorhinolaryngology–Head and Neck Surgery (E.V., H.G.X.M.T.)</div><div class='author-affiliation'><span class='nlm-sup'>b</span>Brain Center Rudolf Magnus (E.V., H.G.X.M.T.)</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.G.X.M.%2BThomeer%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=Thomeer%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.G.X.M.%2BThomeer%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/0000-0003-0937-6189" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for H.G.X.M. 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        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 39</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 5 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 May 2018 </div></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">May 2018, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">39 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(5) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">928-934; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A5588 </span></div>
  
  
  
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