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<meta name="description" content="Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant p …"><meta name="keywords" content="pmid:20857301, PMC3059390, doi:10.1007/s00401-010-0748-0, Case Reports, Gordana Juric-Sekhar, Raj P Kapur, Robert F Hevner, Brain / metabolism, Brain / pathology*, Calbindin 2, Calbindins, Dwarfism / complications, Dwarfism / diagnostic imaging, Dwarfism / genetics, Dwarfism / pathology, Female, Fetal Growth Retardation / diagnostic imaging, Fetal Growth Retardation / genetics, Fetal Growth Retardation / pathology, Genetic Testing / methods, Glial Fibrillary Acidic Protein / metabolism, Humans, Infant, Malformations of Cortical Development, Group II / etiology*, Malformations of Cortical Development, Group II / genetics, Malformations of Cortical Development, Group II / pathology, Malformations of Cortical Development, Group II / radiotherapy, Microcephaly / complications, Microcephaly / diagnostic imaging, Microcephaly / genetics, Microcephaly / pathology, Microtubule-Associated Proteins / metabolism, Neurofilament Proteins / metabolism, Neurologic Examination, Osteochondrodysplasias / complications, Osteochondrodysplasias / diagnostic imaging, Osteochondrodysplasias / genetics, Osteochondrodysplasias / pathology, Radiography, S100 Calcium Binding Protein G / metabolism, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/20857301/"><meta property="og:description" content="Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant p …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/20857301/"><meta name="twitter:description" content="Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant p …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
</div>
<div class="action-panel-control-wrap">
<label for="email-from" class="action-panel-label">
From:
</label>
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="po2OhVEX10wsEBg8lxYjo79LhsmBedX8GbMTUL7jBBjWy2mYYQBlSfFpPw4N7Ovs">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="po2OhVEX10wsEBg8lxYjo79LhsmBedX8GbMTUL7jBBjWy2mYYQBlSfFpPw4N7Ovs">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="po2OhVEX10wsEBg8lxYjo79LhsmBedX8GbMTUL7jBBjWy2mYYQBlSfFpPw4N7Ovs">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="po2OhVEX10wsEBg8lxYjo79LhsmBedX8GbMTUL7jBBjWy2mYYQBlSfFpPw4N7Ovs">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="po2OhVEX10wsEBg8lxYjo79LhsmBedX8GbMTUL7jBBjWy2mYYQBlSfFpPw4N7Ovs">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="20857301">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://dx.doi.org/10.1007/s00401-010-0748-0"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3055&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=20857301&amp;db=pubmed&amp;nlmid=0412041"
title="See full text options at Springer"
data-ga-category="full_text"
data-ga-action="Springer"
data-ga-label="20857301"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" alt="Springer full text link"><span class="text">
Springer
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/20857301/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=20857301&amp;db=pubmed&amp;nlmid=0412041"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="20857301"
><span class="text">
Free PMC article
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/20857301/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/20857301/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="20857301" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F20857301%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="po2OhVEX10wsEBg8lxYjo79LhsmBedX8GbMTUL7jBBjWy2mYYQBlSfFpPw4N7Ovs"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
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<p>
Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly.
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<p> Fig. 1 </p>
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<div class="figure-caption-contents"><p> The patient at age 9… </p></div>
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<div class="figure-caption-contents"><p> The patient at age 9 months. Note <b> a </b> sloping forehead, sparse hair and… </p></div>
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<div class="figure-caption-contents">The patient at age 9 months. Note <b>a</b> sloping forehead, sparse hair and eyebrows, periorbital fullness, and small low-set ear. <b>b, c</b> Talipes equinovarus and rocker-bottom foot with overriding of the fourth toe by the fifth, and markedly thickened plantar creases and edema. <b>d</b> Spade-like hand along with brachydactyly and clinodactyly of the index finger. (Written informed consent was obtained from the patients mother for showing the images in this figure.)</div>
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<p> Fig. 2 </p>
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<div class="figure-caption-contents"><p> Radiological findings. Flat-plate images at… </p></div>
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<p> Fig. 2 </p>
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<div class="figure-caption-contents"><p> Radiological findings. Flat-plate images at age 3 months showed: <b> a </b> Patchy sclerosis of… </p></div>
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<div class="figure-caption-contents">Radiological findings. Flat-plate images at age 3 months showed: <b>a</b> Patchy sclerosis of the bones and bilateral hip dislocation. <b>b, c</b> Mildly slender long bones and narrow intramedullary cavities. <b>d</b> Fingers were bent, albeit with well-formed phalanges. <b>e</b> Deficient phalanges of the toes. MRI of the brain at age 9 months (<b>f</b> axial T1-weighted, <b>g</b> coronal T2-weighted) revealed diffuse bifrontal hypoplasia and lissencephaly, with temporal, parietal and occipital lobes affected to a lesser extent. The corpus callosum was not identified; the deep grey nuclei and thalamus were unremarkable. Prior hemorrhages or infarcts were noted in white matter. The large interhemispheric defect (<b>g</b>) seemed to communicate with the third ventricle</div>
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<p> Fig. 3 </p>
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<div class="figure-caption-contents"><p> Brain at postmortem examination. <b> a… </b> </p></div>
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<div class="figure-caption-contents"><p> Brain at postmortem examination. <b> a </b> The cerebrum was asymmetric with smaller right hemisphere… </p></div>
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<div class="figure-caption-contents">Brain at postmortem examination. <b>a</b> The cerebrum was asymmetric with smaller right hemisphere than the left; gyri were reduced and thick, worse frontal, with midline attachment of the frontal lobes due to leptomeningeal fusion (<i>black arrows</i>). <b>b</b> Lateral view demonstrated inferior and superior temporal gyri; porencephaly was seen in the right parietal region with a thin membrane (<i>white arrow</i>). <b>c</b> Inferior view demonstrated the simplified hemispheric surface with absent rhinal sulci; a yellowish necrotic area was found in the right midbrain tegmentum (<i>dashed back arrow</i>). <b>d</b> Sagittal sections showed a hypoplastic corpus callosum (<i>black arrows</i>), crossing only at the genu. <b>e</b> Coronal slices of the right hemisphere. The cortex was thick, measuring 0.70.8 cm (<i>dashed black lines</i>), while white matter was very thin. The hippocampus was small. The porencephalic defect was transmural (<i>white arrow</i>). Cystic yellow necrotic foci were seen at the greywhite interface and in deep grey nuclei <i>(black arrows). Scale bars</i> in <b>ae</b> indicate centimeters</div>
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<div class="figure-caption-contents"><p> Histopathology of frontal cortex showing… </p></div>
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<div class="figure-caption-contents"><p> Histopathology of frontal cortex showing 3-layered lissencephaly. The layers <i> I, II, III </i> ,… </p></div>
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<div class="figure-caption-contents">Histopathology of frontal cortex showing 3-layered lissencephaly. The layers <i>I, II, III</i>, and white matter (<i>WM</i>) are indicated on the H&amp;E stained section. The leptomeninges demonstrated a crust of glioneuronal heterotopia (<i>white asterisk</i>). The superficial layer (<i>I</i>) of frontal cortex appeared hyperconvoluted, resembling polymicrogyria. Layer II consisted of disorganized medium- to large-sized pyramidal cells, many labeled with MAP-1B and N52 immunoreactivity. Interneurons labeled by calretinin were distributed mainly in layer II. Layer III contained small-sized neurons, many labeled with MAP-1B, as well as N52 immunoreactive axon bundles orientated radially in the cortex. The boundary between grey and white matter was blurred. (<i>Insets</i> show higher magnifications of <i>boxed areas</i>.)</div>
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<p> Fig. 5 </p>
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<div class="figure-caption-contents"><p> Histopathology of temporal cortex. H&amp;E… </p></div>
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<p> Fig. 5 </p>
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<div class="figure-caption-contents"><p> Histopathology of temporal cortex. H&amp;E staining showed the 6-layered pachygyric cortex designated by… </p></div>
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<div class="figure-caption-contents">Histopathology of temporal cortex. H&E staining showed the 6-layered pachygyric cortex designated by Roman numerals <i>I</i> to <i>VI</i>, and the white matter (<i>WM</i>). Note leptomeningeal glioneuronal heterotopia (<i>white asterisk</i>). Layer V contained large pyramidal neurons labeled with MAP-1B and N52. Layer VI contained N52-immunopositive, radially oriented axon bundles (<i>lower inset</i>). Calretinin immunolabeled interneurons were seen mainly in layer II. The boundary between grey and white matter was not well defined. (<i>Insets</i> show higher magnifications of <i>boxed areas</i>.)</div>
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<p> Fig. 6 </p>
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<div class="figure-caption-contents"><p> Histopathology of occipital cortex. H&amp;E… </p></div>
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<p> Fig. 6 </p>
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<div class="figure-caption-contents"><p> Histopathology of occipital cortex. H&amp;E demonstrated neuronal disorganization with primitive 3-layered lissencephaly, and… </p></div>
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<div class="figure-caption-contents">Histopathology of occipital cortex. H&E demonstrated neuronal disorganization with primitive 3-layered lissencephaly, and a poorly defined boundary with white matter (<i>WM</i>). MAP-1B and N52 immunopositive pyramidal cells were found in layer II. Interneurons labeled by calretinin were mainly distributed in layer II. (<i>Insets</i> show higher magnifications of <i>boxed areas</i>.)</div>
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<p> Fig. 7 </p>
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<div class="figure-caption-contents"><b> a </b> Cerebellum, demonstrating focal loss…</div>
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<p> Fig. 7 </p>
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<div class="figure-caption-contents"><b> a </b> Cerebellum, demonstrating focal loss of calbindin-immunoreactive Purkinje cells. <b> b </b> Heterotopic granule neurons…</div>
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<div class="figure-caption-contents"><b>a</b> Cerebellum, demonstrating focal loss of calbindin-immunoreactive Purkinje cells. <b>b</b> Heterotopic granule neurons and Purkinje cells were found in the cerebellar leptomeninges. (<i>Inset</i> shows higher magnification of <i>boxed area</i>.) <b>c</b> The hippocampus and dentate gyrus were hypocellular (H&amp;E). <b>d</b> MAP-1B immunostaining demonstrated the inferior olives with moderately simplified convolutions. The pyramidal tract was severely hypoplastic and virtually absent</div>
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<p> Fig. 8 </p>
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<div class="figure-caption-contents"><p> Schematic illustrations of the 3-layered… </p></div>
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<p> Fig. 8 </p>
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<div class="figure-caption-contents"><p> Schematic illustrations of the 3-layered lissencephaly of the frontal and the occipital lobes,… </p></div>
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<div class="figure-caption-contents">Schematic illustrations of the 3-layered lissencephaly of the frontal and the occipital lobes, and 6-layered pachygyric cortex of the temporal lobe, compared to normal cortex as labeled by MAP-1B, N52, and calretinin. The normal cortex has a relatively hypocellular molecular layer I (<i>brown, yellow</i>). Layer II contains calretinin immunolabeled neurons (<i>red</i>), found also in layer III along with small pyramidal neurons (<i>blue</i>). Layer IV contains small granular neurons (<i>yellow</i>), while layer V, the internal pyramidal cell layer, highlights medium-to-large MAP-1B and N52 positive pyramidal cells (<i>grey</i>). Layer VI is the fusiform and multiform layer (<i>green, purple, brown</i>), and below this is the white matter (<i>striped whitegrey</i>). In the present case, layer I of the frontal and the occipital lobes was moderately cellular and contained various neuron types including MAP-1B, N52, and calretinin-immunopositive cells. Below this was a disorganized pyramidal cell layer highlighted by MAP-1B and N52 immunopositive cells designated layer II. Layer III was thickened and consisted of mostly small MAP-1B and N52 positive pyramidal cells, calretinin labeled cells, and other small- to medium-sized unlabeled cells. The temporal lobe had a relatively normal cytoarchitecture, although markedly thickened. The white matter was reduced in all lobes</div>
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