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<meta name="DC.Description" content="SUMMARY: VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.

CC
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HH
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IF
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JS
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JSRD
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MTS
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OFD VI
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PF
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PMG
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SCP
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VH
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&lt;p&gt;VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.&lt;/p&gt;" />
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<meta name="twitter:title" content="Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients" />
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<meta name="twitter:description" content="SUMMARY: VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.

CC
:   corpus callosum
HH
:   hypothalamic hamartoma
IF
:   interpeduncular fossa
JS
:   Joubert syndrome
JSRD
:   Joubert syndrome and related disorders
MTS
:   molar tooth sign
OFD VI
:   oral-facial-digital syndrome type VI
PF
:   posterior fossa
PMG
:   polymicrogyria
SCP
:   superior cerebellar peduncles
VH
:   vermian hypoplasia" />
<meta name="og-title" property="og:title" content="Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients" />
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<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="SUMMARY: VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.

CC
:   corpus callosum
HH
:   hypothalamic hamartoma
IF
:   interpeduncular fossa
JS
:   Joubert syndrome
JSRD
:   Joubert syndrome and related disorders
MTS
:   molar tooth sign
OFD VI
:   oral-facial-digital syndrome type VI
PF
:   posterior fossa
PMG
:   polymicrogyria
SCP
:   superior cerebellar peduncles
VH
:   vermian hypoplasia" />
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<p id="p-3"><strong>SUMMARY:</strong> VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.</p>
</div></div><div class="section glossary" id="glossary-1"><h2>Abbreviations</h2><dl id="def-list-1"><dt id="def-item-1">CC<span class="def-item-dt-sep"></span></dt><dd>corpus callosum<span class="def-item-dd-sep"></span></dd><dt id="def-item-2">HH<span class="def-item-dt-sep"></span></dt><dd>hypothalamic hamartoma<span class="def-item-dd-sep"></span></dd><dt id="def-item-3">IF<span class="def-item-dt-sep"></span></dt><dd>interpeduncular fossa<span class="def-item-dd-sep"></span></dd><dt id="def-item-4">JS<span class="def-item-dt-sep"></span></dt><dd>Joubert syndrome<span class="def-item-dd-sep"></span></dd><dt id="def-item-5">JSRD<span class="def-item-dt-sep"></span></dt><dd>Joubert syndrome and related disorders<span class="def-item-dd-sep"></span></dd><dt id="def-item-6">MTS<span class="def-item-dt-sep"></span></dt><dd>molar tooth sign<span class="def-item-dd-sep"></span></dd><dt id="def-item-7">OFD VI<span class="def-item-dt-sep"></span></dt><dd>oral-facial-digital syndrome type VI<span class="def-item-dd-sep"></span></dd><dt id="def-item-8">PF<span class="def-item-dt-sep"></span></dt><dd>posterior fossa<span class="def-item-dd-sep"></span></dd><dt id="def-item-9">PMG<span class="def-item-dt-sep"></span></dt><dd>polymicrogyria<span class="def-item-dd-sep"></span></dd><dt id="def-item-10">SCP<span class="def-item-dt-sep"></span></dt><dd>superior cerebellar peduncles<span class="def-item-dd-sep"></span></dd><dt id="def-item-11">VH<span class="def-item-dt-sep"></span></dt><dd>vermian hypoplasia</dd></dl></div><ul class="copyright-statement"><li class="fn" id="copyright-statement-1">© 2011 by American Journal of Neuroradiology</li></ul><span class="highwire-journal-article-marker-end"></span></div><span class="related-urls"></span></div><a href="http://ajnr-stage2.stage.highwire.org/content/32/8/1459.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-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">A.</span> <span class="nlm-surname">Poretti</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">T.A.G.M.</span> <span class="nlm-surname">Huisman</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">I.</span> <span class="nlm-surname">Scheer</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">E.</span> <span class="nlm-surname">Boltshauser</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">Sep 2011, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">32 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(8) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1459-1463; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A2517 </span></div>
  
  
  
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