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<meta name="DC.Description" content="SUMMARY: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.

ABDS
:   Athabascan brainstem dysgenesis syndrome
BSAS
:   Bosley-Salih-Alorainy syndrome
CLA
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CN
:   cranial nerve
HOX 
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ICA
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MRA
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&lt;p&gt;The human &lt;i&gt;HOXA1&lt;/i&gt; mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.&lt;/p&gt;" />
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<meta name="twitter:title" content="Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare HOXA1 Mutation Syndrome" />
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<meta name="twitter:description" content="SUMMARY: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.

ABDS
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BSAS
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CLA
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CN
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HOX 
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ICA
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MRA
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<meta name="og-description" property="og:description" content="SUMMARY: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.

ABDS
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BSAS
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CLA
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CN
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HOX 
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MRA
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      <h1 class="highwire-cite-title" id="page-title">Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare <em>HOXA1</em> Mutation Syndrome</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">M.J. Higley</span>, <span class="highwire-citation-author" data-delta="1">T.W. Walkiewicz</span>, <span class="highwire-citation-author" data-delta="2">J.H. Miller</span>, <span class="highwire-citation-author" data-delta="3">J.G. Curran</span> and <span class="highwire-citation-author" data-delta="4">R.B. Towbin</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 2011,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">32 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(2) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">E23-E25; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A1969 </span></div>
  
  
  
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    <div class="highwire-markup"><div xmlns="http://www.w3.org/1999/xhtml" class="content-block-markup" xmlns:xhtml="http://www.w3.org/1999/xhtml"><div xmlns:xhtml="http://www.w3.org/1999/xhtml" class="contributors"><ol class="contributor-list" id="contrib-group-1"><li class="contributor" id="contrib-1"><span class="name">M.J. Higley</span><a id="xref-aff-1-1" class="xref-aff" href="#aff-1">a</a><span class="xref-sep">,</span><a id="xref-aff-2-1" class="xref-aff" href="#aff-2">b</a>, </li><li class="contributor" id="contrib-2"><span class="name">T.W. Walkiewicz</span><a id="xref-aff-1-2" class="xref-aff" href="#aff-1">a</a>, </li><li class="contributor" id="contrib-3"><span class="name">J.H. Miller</span><a id="xref-aff-1-3" class="xref-aff" href="#aff-1">a</a>, </li><li class="contributor" id="contrib-4"><span class="name">J.G. Curran</span><a id="xref-aff-1-4" class="xref-aff" href="#aff-1">a</a> and </li><li class="last" id="contrib-5"><span class="name">R.B. Towbin</span><a id="xref-aff-1-5" class="xref-aff" href="#aff-1">a</a></li></ol><ol class="affiliation-list"><li class="aff"><a id="aff-1" name="aff-1"></a><address><sup>a</sup>From the Department of Radiology (M.J.H., T.W.W., J.H.M., J.G.C., R.B.T.), Phoenix Children's Hospital, Phoenix, Arizona</address></li><li class="aff"><a id="aff-2" name="aff-2"></a><address><sup>b</sup>University of Arizona College of Medicine Phoenix (M.J.H.), Phoenix, Arizona.</address></li></ol><ol class="corresp-list"><li class="corresp" id="corresp-1">Please address correspondence to Thomas W. Walkiewicz, MD, <span class="addr-line">Department of Radiology, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ 85016</span>; e-mail: <span class="em-link"><span class="em-addr">twalkiewicz{at}phoenixchildrens.com</span></span></li></ol></div></div><a href="http://ajnr-stage2.stage.highwire.org/content/32/2/E23.full" class="hw-link hw-link-article-full-text" data-icon-position="" data-hide-link-title="0">View Full Text</a></div>  </div>

  
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      <div class="highwire-cite-title">Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare <em>HOXA1</em> Mutation Syndrome</div>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">M.J.</span> <span class="nlm-surname">Higley</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">T.W.</span> <span class="nlm-surname">Walkiewicz</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">J.H.</span> <span class="nlm-surname">Miller</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">J.G.</span> <span class="nlm-surname">Curran</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">R.B.</span> <span class="nlm-surname">Towbin</span></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">Feb 2011, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">32 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(2) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">E23-E25; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A1969 </span></div>
  
  
  
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      <div class="highwire-cite-title">Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare <em>HOXA1</em> Mutation 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">Feb 2011, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">32 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(2) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">E23-E25; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A1969 </span></div>
  
  
  
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