644 lines
No EOL
147 KiB
XML
644 lines
No EOL
147 KiB
XML
<?xml version="1.0" encoding="utf-8"?>
|
||
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
||
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" lang="en">
|
||
|
||
<head><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
||
<!-- AppResources meta begin -->
|
||
<meta name="paf-app-resources" content="" />
|
||
<script type="text/javascript">var ncbi_startTime = new Date();</script>
|
||
|
||
<!-- AppResources meta end -->
|
||
|
||
<!-- TemplateResources meta begin -->
|
||
<meta name="paf_template" content="" />
|
||
|
||
<!-- TemplateResources meta end -->
|
||
|
||
<!-- Logger begin -->
|
||
<meta name="ncbi_db" content="books" /><meta name="ncbi_pdid" content="book-part" /><meta name="ncbi_acc" content="NBK554080" /><meta name="ncbi_domain" content="gene" /><meta name="ncbi_report" content="classic" /><meta name="ncbi_type" content="fulltext" /><meta name="ncbi_objectid" content="" /><meta name="ncbi_pcid" content="/NBK554080/?report=classic" /><meta name="ncbi_pagename" content="Saul-Wilson Syndrome - GeneReviews® - NCBI Bookshelf" /><meta name="ncbi_bookparttype" content="chapter" /><meta name="ncbi_app" content="bookshelf" />
|
||
<!-- Logger end -->
|
||
|
||
<title>Saul-Wilson Syndrome - GeneReviews® - NCBI Bookshelf</title>
|
||
|
||
<!-- AppResources external_resources begin -->
|
||
<link rel="stylesheet" href="/core/jig/1.15.2/css/jig.min.css" /><script type="text/javascript" src="/core/jig/1.15.2/js/jig.min.js"></script>
|
||
|
||
<!-- AppResources external_resources end -->
|
||
|
||
<!-- Page meta begin -->
|
||
<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Saul-Wilson Syndrome" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2020/02/20" /><meta name="citation_author" content="Carlos Ferreira" /><meta name="citation_pmid" content="32078278" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK554080/" /><meta name="citation_keywords" content="Microcephalic Osteodysplastic Dysplasia" /><meta name="citation_keywords" content="Microcephalic Osteodysplastic Dysplasia" /><meta name="citation_keywords" content="Conserved oligomeric Golgi complex subunit 4" /><meta name="citation_keywords" content="COG4" /><meta name="citation_keywords" content="Saul-Wilson Syndrome" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Saul-Wilson Syndrome" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Carlos Ferreira" /><meta name="DC.Date" content="2020/02/20" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK554080/" /><meta name="description" content="Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. To date, 16 affected individuals have been reported." /><meta name="og:title" content="Saul-Wilson Syndrome" /><meta name="og:type" content="book" /><meta name="og:description" content="Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. To date, 16 affected individuals have been reported." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK554080/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/saul-wilson/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK554080/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script><meta name="book-collection" content="NONE" />
|
||
|
||
<!-- Page meta end -->
|
||
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8BF79B7D54D2F1000000000042003C.m_13" />
|
||
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3852956/3985586/3808861/4121862/3974050/3917732/251717/4216701/14534/45193/4113719/3849091/3984811/3751656/4033350/3840896/3577051/3852958/4008682/4207974/4206132/4062871/12930/3964959/3854974/36029/4128070/9685/3549676/3609192/3609193/3609213/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3411343/3882866.css" media="print" /></head>
|
||
<body class="book-part">
|
||
<div class="grid">
|
||
<div class="col twelve_col nomargin shadow">
|
||
<!-- System messages like service outage or JS required; this is handled by the TemplateResources portlet -->
|
||
<div class="sysmessages">
|
||
<noscript>
|
||
<p class="nojs">
|
||
<strong>Warning:</strong>
|
||
The NCBI web site requires JavaScript to function.
|
||
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
||
</p>
|
||
</noscript>
|
||
</div>
|
||
<!--/.sysmessage-->
|
||
<div class="wrap">
|
||
<div class="page">
|
||
<div class="top">
|
||
<div id="universal_header">
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it's official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you're on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
|
||
<span class="fa fa-user" aria-hidden="true">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
|
||
<g style="fill: #fff">
|
||
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
|
||
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
|
||
</g>
|
||
</svg>
|
||
</span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
|
||
<span class="fa fa-times">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
|
||
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
|
||
</svg>
|
||
</span>
|
||
<span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br />
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
</div>
|
||
<div class="header">
|
||
<div class="res_logo"><h1 class="res_name"><a href="/books/" title="Bookshelf home">Bookshelf</a></h1><h2 class="res_tagline"></h2></div>
|
||
<div class="search"><form method="get" action="/books/"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="books" selected="selected" data-ac_dict="bookshelf-search">Books</option><option value="pubmed">PubMed</option><option value="medgen">MedGen</option><option value="clinvar" class="last">ClinVar</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books" data-ac_dict="bookshelf-search">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen">MedGen</option><option value="mesh">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search Books. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'bookshelf-search',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'no',afs:'no'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div></form><ul class="searchlinks inline_list"><li>
|
||
<a href="/books/browse/">Browse Titles</a>
|
||
</li><li>
|
||
<a href="/books/advanced/">Advanced</a>
|
||
</li><li class="help">
|
||
<a href="/books/NBK3833/">Help</a>
|
||
</li><li class="disclaimer">
|
||
<a target="_blank" data-ga-category="literature_resources" data-ga-action="link_click" data-ga-label="disclaimer_link" href="https://www.ncbi.nlm.nih.gov/books/about/disclaimer/">Disclaimer</a>
|
||
</li></ul></div>
|
||
</div>
|
||
|
||
|
||
|
||
<!--<component id="Page" label="headcontent"/>-->
|
||
|
||
</div>
|
||
<div class="content">
|
||
<!-- site messages -->
|
||
<!-- Custom content 1 -->
|
||
<div class="col1">
|
||
|
||
</div>
|
||
|
||
<div class="container">
|
||
<div id="maincontent" class="content eight_col col">
|
||
<!-- Custom content in the left column above book nav -->
|
||
<div class="col2">
|
||
|
||
</div>
|
||
|
||
<!-- Book content -->
|
||
|
||
|
||
<!-- Custom content between navigation and content -->
|
||
<div class="col3">
|
||
|
||
</div>
|
||
|
||
<div class="document">
|
||
<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK554080_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK554080_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/sandhoff/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/schaaf-yang/" title="Next page in this title">Next ></a></div></div></div></div></div>
|
||
<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK554080_"><span class="title" itemprop="name">Saul-Wilson Syndrome</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonym: Microcephalic Osteodysplastic Dysplasia</div><p class="contrib-group"><span itemprop="author">Carlos Ferreira</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK554080_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK554080_ai__"><div class="contrib half_rhythm"><span itemprop="author">Carlos Ferreira</span>, MD<div class="affiliation small">Medical Genomics and Metabolic Genetics Branch<br />National Human Genome Research Institute<br />National Institutes of Health<br />Bethesda, Maryland<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="vog.hin@arierref.solrac" class="oemail">vog.hin@arierref.solrac</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">February 20, 2020</span>.</p><p><em>Estimated reading time: 18 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="saul-wilson.Summary" itemprop="description"><h2 id="_saul-wilson_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. To date, 16 affected individuals have been reported.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of SWS is established in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with marked short stature, typical facial and skeletal features, and a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>COG4</i> identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. To date only two <i>COG4</i> variants, both resulting in a <a href="/books/NBK554080/table/saul-wilson.T.notable_cog4_pathogenic_va/?report=objectonly" target="object" rid-ob="figobsaulwilsonTnotablecog4pathogenicva">p.Gly516Arg</a> <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> change, have been reported.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Skeletal dysplasia or physiatry clinic (orthopedist, OT/PT/ rehabilitation specialist) to address repair of clubfoot, possible C1-C2 subluxation and/or spinal cord compression, mobility issues in those with residual foot deformities (post clubfoot repair), osteoarticular pain; standard treatment for feeding issues, speech delay, cataracts and retinal dystrophy, and hearing loss.</p><p><i>Surveillance:</i> Routine follow up of growth and feeding, developmental progress and educational needs, musculoskeletal issues including mobility, osteoarticular pain, bone fragility, possible cataracts and/or retinal dystrophy, hearing loss.</p><p><i>Agents/circumstances to avoid:</i> Participation in gymnastics and jumping on a trampoline until atlanto-axial instability is excluded.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>SWS is an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> disorder typically caused by a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. Sib recurrence has been observed in one family and is thought to result from <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> in a parent. The risk to offspring of an individual with SWS of inheriting the <i>COG4</i> pathogenic variant is 50%. Once the <i>COG4</i> pathogenic variant has been identified in an affected family member, <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> for a pregnancy at increased risk and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p></div></div><div id="saul-wilson.Diagnosis"><h2 id="_saul-wilson_Diagnosis_">Diagnosis</h2><p>Formal diagnostic criteria for Saul-Wilson syndrome have not been established.</p><div id="saul-wilson.Suggestive_Findings"><h3>Suggestive Findings</h3><p>Saul-Wilson syndrome <b>should be suspected</b> in individuals with the following clinical, laboratory, and imaging findings [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2018.553">Ferreira et al 2018</a>].</p><p>
|
||
<b>Clinical findings</b>
|
||
</p><ul><li class="half_rhythm"><div>Skeletal</div><ul><li class="half_rhythm"><div>Profound short stature (typically of prenatal onset)</div></li><li class="half_rhythm"><div>Clubfoot</div></li><li class="half_rhythm"><div>Short distal phalanges of fingers and toes (See <a class="figpopup" href="/books/NBK554080/figure/saul-wilson.F1/?report=objectonly" target="object" rid-figpopup="figsaulwilsonF1" rid-ob="figobsaulwilsonF1">Figure 1</a>.)</div></li></ul></li><li class="half_rhythm"><div>Distinctive craniofacial features (See <a class="figpopup" href="/books/NBK554080/figure/saul-wilson.F1/?report=objectonly" target="object" rid-figpopup="figsaulwilsonF1" rid-ob="figobsaulwilsonF1">Figure 1</a>.)</div><ul><li class="half_rhythm"><div>Progeroid facial appearance (more striking during infancy)</div></li><li class="half_rhythm"><div>Sparse hair and sparse eyebrows</div></li><li class="half_rhythm"><div>Prominent forehead with prominent scalp veins</div></li><li class="half_rhythm"><div>Enlargement and delayed closure of the anterior fontanelle (earliest known closure 21 months; still open at age 3 years in one child)</div></li><li class="half_rhythm"><div>Narrow nasal bridge with convex nasal ridge</div></li><li class="half_rhythm"><div>Prominent columella (developing in late childhood)</div></li><li class="half_rhythm"><div>Thin vermilion of the upper lip</div></li><li class="half_rhythm"><div>Mild micrognathia</div></li></ul></li><li class="half_rhythm"><div>Eyes</div><ul><li class="half_rhythm"><div>Blue sclerae (during the first few months of life)</div></li><li class="half_rhythm"><div>Lamellar cataracts</div></li><li class="half_rhythm"><div>Rod-cone dystrophy</div></li></ul></li><li class="half_rhythm"><div>Hearing loss (conductive, sensorineural, and mixed)</div></li><li class="half_rhythm"><div>Early developmental delay (primarily speech) with normal cognition</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figsaulwilsonF1" co-legend-rid="figlgndsaulwilsonF1"><a href="/books/NBK554080/figure/saul-wilson.F1/?report=objectonly" target="object" title="Figure 1" class="img_link icnblk_img figpopup" rid-figpopup="figsaulwilsonF1" rid-ob="figobsaulwilsonF1"><img class="small-thumb" src="/books/NBK554080/bin/saul-wilson-Image001.gif" src-large="/books/NBK554080/bin/saul-wilson-Image001.jpg" alt="Figure 1. A, C, and D." /></a><div class="icnblk_cntnt" id="figlgndsaulwilsonF1"><h4 id="saul-wilson.F1"><a href="/books/NBK554080/figure/saul-wilson.F1/?report=objectonly" target="object" rid-ob="figobsaulwilsonF1">Figure 1</a></h4><p class="float-caption no_bottom_margin">A, C, and D. Note prominent forehead, scalp veins, and columella, as well as thin vermilion of the upper lip. B. Note short distal phalanges of the fingers.</p></div></div><p>
|
||
<b>Laboratory findings</b>
|
||
</p><ul><li class="half_rhythm"><div>Elevated hepatic transaminases</div></li><li class="half_rhythm"><div>Intermittent neutropenia</div></li></ul><p><b>Skeletal radiographs</b> (See <a class="figpopup" href="/books/NBK554080/figure/saul-wilson.F2/?report=objectonly" target="object" rid-figpopup="figsaulwilsonF2" rid-ob="figobsaulwilsonF2">Figure 2</a>.)</p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figsaulwilsonF2" co-legend-rid="figlgndsaulwilsonF2"><a href="/books/NBK554080/figure/saul-wilson.F2/?report=objectonly" target="object" title="Figure 2" class="img_link icnblk_img figpopup" rid-figpopup="figsaulwilsonF2" rid-ob="figobsaulwilsonF2"><img class="small-thumb" src="/books/NBK554080/bin/saul-wilson-Image002.gif" src-large="/books/NBK554080/bin/saul-wilson-Image002.jpg" alt="Figure 2. A." /></a><div class="icnblk_cntnt" id="figlgndsaulwilsonF2"><h4 id="saul-wilson.F2"><a href="/books/NBK554080/figure/saul-wilson.F2/?report=objectonly" target="object" rid-ob="figobsaulwilsonF2">Figure 2</a></h4><p class="float-caption no_bottom_margin">A. Babygram obtained at age 11 months. Note coxa valga, overtubulation of the long bones, and lucencies of the proximal femora. B. Lateral cervical spine radiograph obtained at age eight months highlighting hypoplasia of the odontoid process</p></div></div><ul><li class="half_rhythm"><div>Long bones</div><ul><li class="half_rhythm"><div>Short long bones</div></li><li class="half_rhythm"><div>Overtubulation with thin diaphyses and flared metaphyses</div></li><li class="half_rhythm"><div>Lucency of proximal femora</div></li><li class="half_rhythm"><div>Coxa valga</div></li><li class="half_rhythm"><div>Megaepiphyses</div></li></ul></li><li class="half_rhythm"><div>Hand</div><ul><li class="half_rhythm"><div>Small hands with short metacarpals and short phalanges</div></li><li class="half_rhythm"><div>Accessory ossification centers of the proximal metacarpals</div></li><li class="half_rhythm"><div>Cone-shaped epiphyses of the phalanges</div></li><li class="half_rhythm"><div>Ivory epiphyses of the distal phalanges (in late childhood)</div></li></ul></li><li class="half_rhythm"><div>Spine</div><ul><li class="half_rhythm"><div>Hypoplasia of the odontoid process of C2</div></li><li class="half_rhythm"><div>Hypoplasia of T12 or L1</div></li><li class="half_rhythm"><div>Platyspondyly (vertebral bodies become taller with age)</div></li><li class="half_rhythm"><div>Irregularities of the endplates of the vertebral bodies (in later life)</div></li></ul></li></ul></div><div id="saul-wilson.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of Saul-Wilson syndrome <b>is established</b> in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with marked short stature, typical facial and skeletal features, and a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> pathogenic (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>) variant in <i>COG4</i> identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> (see <a href="/books/NBK554080/table/saul-wilson.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobsaulwilsonTmoleculargenetictesting">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "<a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a> variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bk_pop" href="#saul-wilson.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) Identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <i>COG4</i> variant of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> does not establish or rule out the diagnosis.</p><p>Gene-targeted testing requires that the clinician determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved, whereas <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing does not. Because Saul-Wilson syndrome is rare, individuals with the distinctive findings described in <a href="#saul-wilson.Suggestive_Findings">Suggestive Findings</a> in whom the diagnosis is recognized are likely to be diagnosed using gene-targeted testing (see <a href="#saul-wilson.Option_1_SingleGene_Testing">Option 1</a>), whereas those in whom the diagnosis of Saul-Wilson syndrome has not been considered are more likely to be diagnosed using genomic testing (see <a href="#saul-wilson.Option_2_Genomic_Testing">Option 2</a>).</p><div id="saul-wilson.Option_1_SingleGene_Testing"><h4>Option 1: Single-Gene Testing</h4><p><b>Sequence analysis</b> of <i>COG4</i> detects small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions/duplications are not detected.</p><p><b>Note:</b> (1) Since only two variants, both resulting in a <a href="/books/NBK554080/table/saul-wilson.T.notable_cog4_pathogenic_va/?report=objectonly" target="object" rid-ob="figobsaulwilsonTnotablecog4pathogenicva">p.Gly516Arg</a> <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> change, have been reported to date, <b>targeted analysis</b> for these variants could be performed first to confirm a clinical diagnosis of Saul-Wilson syndrome. (2) Since Saul-Wilson syndrome occurs through a <a class="def" href="/books/n/gene/glossary/def-item/gain-of-function/">gain-of-function</a> mechanism and large intragenic <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> or <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> has not been reported, testing for intragenic deletions or duplication is unlikely to identify a disease-causing variant.</p></div><div id="saul-wilson.Option_2_Genomic_Testing"><h4>Option 2: Genomic Testing</h4><p><b>Comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved. <b>Exome sequencing</b> is the most commonly used genomic testing method; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible.</p><p>For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div id="saul-wilson.T.molecular_genetic_testing" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Saul-Wilson Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.T.molecular_genetic_testing/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.T.molecular_genetic_testing_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>COG4</i>
|
||
</td><td headers="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">14/14 <sup>4</sup></td></tr><tr><td headers="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> <sup>5</sup></td><td headers="hd_h_saul-wilson.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None detected <sup>6</sup></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt>1. </dt><dd><div id="saul-wilson.TF.1.1"><p class="no_margin">See <a href="/books/NBK554080/#saul-wilson.molgen.TA">Table A. Genes and Databases</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> and protein.</p></div></dd><dt>2. </dt><dd><div id="saul-wilson.TF.1.2"><p class="no_margin">See <a href="#saul-wilson.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>.</p></div></dd><dt>3. </dt><dd><div id="saul-wilson.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, <a class="def" href="/books/n/gene/glossary/def-item/likely-benign/">likely benign</a>, of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>, <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>, or pathogenic. Variants may include small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions/duplications are not detected. For issues to consider in interpretation of <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> results, click <a href="/books/n/gene/app2/">here</a>.</p></div></dd><dt>4. </dt><dd><div id="saul-wilson.TF.1.4"><p class="no_margin">
|
||
<a class="bk_pop" href="#saul-wilson.REF.ferreira.2018.553">Ferreira et al [2018]</a>
|
||
</p></div></dd><dt>5. </dt><dd><div id="saul-wilson.TF.1.5"><p class="no_margin">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> detects intragenic deletions or duplications. Methods used may include a range of techniques such as <a class="def" href="/books/n/gene/glossary/def-item/quantitative-pcr/">quantitative PCR</a>, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted microarray designed to detect single-<a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> deletions or duplications.</p></div></dd><dt>6. </dt><dd><div id="saul-wilson.TF.1.6"><p class="no_margin">Since Saul-Wilson syndrome occurs through a <a class="def" href="/books/n/gene/glossary/def-item/gain-of-function/">gain-of-function</a> mechanism and large intragenic deletions or <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> has not been reported, testing for intragenic deletions or duplication is unlikely to identify a disease-causing variant.</p></div></dd></dl></div></div></div></div></div></div><div id="saul-wilson.Clinical_Characteristics"><h2 id="_saul-wilson_Clinical_Characteristics_">Clinical Characteristics</h2><div id="saul-wilson.Clinical_Description"><h3>Clinical Description</h3><p>Saul-Wilson syndrome is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy.</p><p>A total of 16 individuals with Saul-Wilson syndrome have been reported to date. Saul-Wilson syndrome was first described in a small-for-gestational-age infant with bulging fontanelles, clubfoot, blue sclerae, and blunted fingertips; over time, growth was delayed and the child developed bilateral cataracts, and hearing loss as the result of frequent otitis media [<a class="bk_pop" href="#saul-wilson.REF.saul.1982.102">Saul 1982</a>]. Three additional individuals with similar features were reported [<a class="bk_pop" href="#saul-wilson.REF.saul.1990.388">Saul & Wilson 1990</a>, <a class="bk_pop" href="#saul-wilson.REF.hersh.1994.194">Hersh et al 1994</a>]. Subsequently the diagnosis of Saul-Wilson syndrome was entertained in a child without typical facial features [<a class="bk_pop" href="#saul-wilson.REF.chinen.2015.2834">Chinen et al 2015</a>], but the diagnosis could not be confirmed by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. Fourteen individuals were described in 2018, including two originally reported in the 1990s [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2018.553">Ferreira et al 2018</a>]. Since that publication, a few additional individuals with Saul-Wilson syndrome worldwide have been diagnosed [Author, personal observation]. The clinical findings discussed in this section are based on these reports.</p><div id="saul-wilson.Growth"><h4>Growth</h4><p>Individuals with Saul-Wilson syndrome show impaired postnatal growth, and several also had intrauterine growth restriction (IUGR).</p><p>Mean length, weight, and head circumference at birth:</p><ul><li class="half_rhythm"><div>Length. 44.1 cm (range: 38.0-49.0)</div></li><li class="half_rhythm"><div>Weight. 2.09 kg (range: 1.45-2.80)</div></li><li class="half_rhythm"><div>Head circumference. 31.7 cm (range: 29.0-34.0)</div></li></ul><p>Z scores at birth:</p><ul><li class="half_rhythm"><div>Length. -2.3 (1.5 SD; range: -0.4 to -5.1)</div></li><li class="half_rhythm"><div>Weight. -2.4 (0.7 SD; range: -1.2 to -3.8)</div></li><li class="half_rhythm"><div>Head circumference: -2.0 (0.9 SD; range: -0.8 to -3.9)</div></li></ul><p>Z scores decline sharply over the first few months of life. At last examination:</p><ul><li class="half_rhythm"><div>Stature. -6.3 (1.8 SD; range: -3.5 to -9.8)</div></li><li class="half_rhythm"><div>Weight. -4.0 (1.2 SD; range: -1.1 to -5.8)</div></li><li class="half_rhythm"><div>Head circumference. -1.7 (1.7 SD; range: 0.8 to -5.0)</div></li></ul><p>
|
||
<b>Based on data available from three adults</b>
|
||
</p><ul><li class="half_rhythm"><div>Mean height, weight, and head circumference at skeletal maturity:</div><ul><li class="half_rhythm"><div>Height. 107.6 cm</div></li><li class="half_rhythm"><div>Weight. 30.5 kg</div></li><li class="half_rhythm"><div>Head circumference. 50.2 cm</div></li></ul></li><li class="half_rhythm"><div>Z scores at skeletal maturity:</div><ul><li class="half_rhythm"><div>Height. -8.9 (0.8 SD; range: -8.3 to -9.8)</div></li><li class="half_rhythm"><div>Weight. -4.3 (0.6 SD; range: -3.6 to -4.8)</div></li><li class="half_rhythm"><div>Head circumference. -3.9 (1.6 SD; range: -2.7 to -5.0)</div></li></ul></li></ul><p>Growth charts for clinical use are currently under development.</p><p>Despite absolute microcephaly, head circumferences exceed the height by more than 2 SD, with consequent relative macrocephaly.</p></div><div id="saul-wilson.Development"><h4>Development</h4><p>Speech delay (8/11) and motor delay (12/14) are common, probably related to the presence of hearing loss and skeletal deformities, respectively; cognitive development does not appear to be affected.</p></div><div id="saul-wilson.Ophthalmologic_Features"><h4>Ophthalmologic Features</h4><p>The majority of affected individuals develop lamellar cataracts during the first few years of life (10/13), and several developed retinal involvement (6/9). Retinal pigmentary changes can be seen in the periphery as early as the toddler years. During adolescence and early adulthood, a rod-cone dystrophy (5/9) becomes evident with constricted visual fields and night blindness.</p><p>Macular cystic changes were also described (2/4). One individual had myelinated retinal nerve fibers [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>].</p></div><div id="saul-wilson.Skeletal_Features"><h4>Skeletal Features</h4><p>Shortening of the distal phalanges of fingers and toes is appreciated on physical examination (12/14). This finding, apparent at birth, did not progress over time. The majority of individuals (10/14) had clubfoot, and in some cases residual deformity even after multiple attempts at surgical repair [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>]. Pectus deformity (5/14) and cervical spinal cord compression (3/7) have also been reported.</p><p>Bone fragility has been suggested, as several individuals (4/14) developed fractures with minimal or no known trauma [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>]. One of these individuals had poor fracture healing, which was also described in the original patient [<a class="bk_pop" href="#saul-wilson.REF.saul.1990.388">Saul & Wilson 1990</a>]. Nonunion with pseudoarthrosis has been seen in two individuals [<a class="bk_pop" href="#saul-wilson.REF.saul.1990.388">Saul & Wilson 1990</a>, <a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>]. Although DXA scans for two individuals reported bone mineral density (BMD) <2 SD below the mean, the height-adjusted BMD [<a class="bk_pop" href="#saul-wilson.REF.zemel.2010.1265">Zemel et al 2010</a>, <a class="bk_pop" href="#saul-wilson.REF.zemel.2011.3160">Zemel et al 2011</a>] was normal in both [Author, personal observation].</p><p>Osteoarticular pain was reported by all three adults. Two had confirmed degenerative joint disease, leading to joint replacement surgeries in one individual in her 20s [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>].</p><p>The combination of megaepiphyses with coxa valga, leading to acetabulum-femoral epiphyseal incongruence, may contribute to premature osteoarthropathy of the hip.</p></div><div id="saul-wilson.Other"><h4>Other</h4><p><b>Hearing loss,</b> seen in the majority of affected individuals over time, can be conductive, sensorineural, or mixed. In one child hearing impairment associated with inner-ear malformations was detected on newborn hearing screen.</p><p><b>MRI findings.</b> Ventriculomegaly was seen in 5/9 and spinal cord syrinx in 1/4 individuals. Spinal cord compression was observed in 3/7: in one child with soft-tissue pannus surrounding the odontoid process, it was seen as early as age four years, and in another child with cervical spine instability, as late as age 14 years.</p><p><b>Intermittent neutropenia,</b> though not appreciated in the first two months of life, was seen in all 12 individuals subsequently evaluated for this finding [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>]. The earliest known age of onset is three months, and it still occurred in adults. While intermittent neutropenia could be one possible explanation for the frequent (although rarely life-threatening) respiratory infections experienced in the first years of life, the neutropenia persisted into adulthood whereas the number of respiratory infections decreased over time.</p><p><b>Asymptomatic elevation of liver transaminases.</b> Elevated aspartate aminotransferase was observed in 6/8 individuals and elevated alanine aminotransferase in 3/8, without abnormalities in other liver function tests, such as serum albumin, coagulation parameters, alkaline phosphatase, and bilirubin [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>].</p></div></div><div id="saul-wilson.GenotypePhenotype_Correlatio"><h3>Genotype-Phenotype Correlations</h3><p>No <a class="def" href="/books/n/gene/glossary/def-item/genotype/">genotype</a>-<a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> correlation is possible because all affected individuals have the same amino acid substitution.</p></div><div id="saul-wilson.Penetrance"><h3>Penetrance</h3><p>Penetrance is thought to be 100%.</p></div><div id="saul-wilson.Prevalence"><h3>Prevalence</h3><p>Sixteen individuals have been reported to date. Three additional individuals are known to have the diagnosis of Saul-Wilson syndrome [Author, personal observation]. There is no known geographic predilection.</p></div></div><div id="saul-wilson.Genetically_Related_Allelic"><h2 id="_saul-wilson_Genetically_Related_Allelic_">Genetically Related (Allelic) Disorders</h2><p>Biallelic <a class="def" href="/books/n/gene/glossary/def-item/loss-of-function/">loss-of-function</a> or <a class="def" href="/books/n/gene/glossary/def-item/hypomorphic/">hypomorphic</a> variants in <i>COG4</i> are associated with COG4-CDG (see <a href="/books/n/gene/cdg/">Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview</a>). COG4-CDG manifests with seizures, hypotonia, intellectual disability, microcephaly, elevated transaminases, and in one case recurrent infections.</p></div><div id="saul-wilson.Differential_Diagnosis"><h2 id="_saul-wilson_Differential_Diagnosis_">Differential Diagnosis</h2><div id="saul-wilson.T.disorders_interest_in_the" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Disorders Interest in the Differential Diagnosis of Saul-Wilson Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.T.disorders_interest_in_the/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.T.disorders_interest_in_the_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" style="text-align:left;vertical-align:middle;">DiffDx Disorder</th><th id="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" style="text-align:left;vertical-align:middle;">Cause</th><th id="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Features of DiffDx Disorder</th></tr><tr><th headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4" id="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/SWS</th><th headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4" id="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from SWS</th></tr></thead><tbody><tr><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/rss/">Silver-Russell syndrome</a>
|
||
</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Chromosome 11p15.5- or <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> 7-related</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 1.</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Short stature (largely prenatal onset w/no postnatal catch-up growth); relative macrocephaly w/enlarged anterior fontanelle; frontal prominence; blue sclerae; ivory epiphyses</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Limb-length asymmetry, multiple café au lait spots, & hypoglycemia; no spondyloepimetaphyseal changes, ocular signs, hearing loss, neutropenia, or ↑ transaminases</td></tr><tr><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Osteogenesis<br />imperfecta (See <a href="/books/n/gene/oi/"><i>COL1A1/2</i> Osteogenesis Imperfecta</a>.)</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>COL1A1</i><br /><i>COL1A2</i><br />(>15 genes) <sup>2</sup></td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD <sup>2</sup></td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Blue sclerae; bone fragility; hearing loss</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dentinogenesis imperfecta; no spondyloepimetaphyseal changes, cataracts, retinal degeneration, neutropenia, or ↑ transaminases</td></tr><tr><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/mopd2/">Microcephalic osteodysplastic primordial dwarfism type II</a>
|
||
</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PCNT</i>
|
||
</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Profound prenatal-onset short stature; microcephaly; low-hanging columella; thin bones w/metaphyseal widening; metacarpal pseudoepiphyses; ivory epiphyses</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vascular issues; no shortening of distal phalanges or frontal prominence</td></tr><tr><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Wiedemann-<br />Rautenstrauch syndrome (OMIM <a href="https://www.omim.org/entry/264090" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">264090</a>)</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>POLR3A</i>
|
||
</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early progeroid features; poor growth; frontal prominence; delayed closure of anterior fontanelle; prominent scalp veins; convex nasal ridge; thin vermilion of upper lip</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intellectual disability <sup>3</sup>; no shortening of distal phalanges</td></tr><tr><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hallermann-<br />Streiff syndrome (OMIM <a href="https://www.omim.org/entry/234100" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">234100</a>)</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Short stature; cataracts; micrognathia; prominent scalp veins; slender diaphyses</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinct facial gestalt (e.g., characteristic thin nose & more pronounced micrognathia)</td></tr><tr><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/fhs/">Floating-Harbor syndrome</a>
|
||
</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SRCAP</i>
|
||
</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Profound prenatal-onset short stature; low-hanging columella; thin vermilion of upper lip; speech delay</td><td headers="hd_h_saul-wilson.T.disorders_interest_in_the_1_1_1_4 hd_h_saul-wilson.T.disorders_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinct facial gestalt (e.g., distinctive prominent nose)</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; DiffDx = differential diagnosis; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; SWS = Saul-Wilson syndrome</p></div></dd><dt>1. </dt><dd><div id="saul-wilson.TF.2.1"><p class="no_margin">In most families, a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with SRS represents a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case (a single affected family member) and has SRS as the result of an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/epigenetic/">epigenetic</a> or genetic alteration (e.g., loss of paternal <a class="def" href="/books/n/gene/glossary/def-item/methylation/">methylation</a> at the H19/IGF2 <a class="def" href="/books/n/gene/glossary/def-item/imprinting/">imprinting</a> center 1 or maternal <a class="def" href="/books/n/gene/glossary/def-item/uniparental-disomy/">uniparental disomy</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> 7).</p></div></dd><dt>2. </dt><dd><div id="saul-wilson.TF.2.2"><p class="no_margin">The majority of individuals diagnosed with osteogenesis imperfect (OI) have the disorder as the result of a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>COL1A1</i> or <i>COL1A2</i>. <i>COL1A1/2</i>-OI is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner. OI caused by pathogenic variants in other genes (see OMIM <a href="https://www.omim.org/phenotypicSeries/PS166200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS166200</a>) may be associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>, autosomal dominant, or <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance.</p></div></dd><dt>3. </dt><dd><div id="saul-wilson.TF.2.3"><p class="no_margin">Intellectual disability is not typically observed in Saul-Wilson syndrome.</p></div></dd></dl></div></div></div></div><div id="saul-wilson.Management"><h2 id="_saul-wilson_Management_">Management</h2><div id="saul-wilson.Evaluations_Following_Initia"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with Saul-Wilson syndrome, the evaluations summarized in <a href="/books/NBK554080/table/saul-wilson.T.recommended_evaluations_fo/?report=objectonly" target="object" rid-ob="figobsaulwilsonTrecommendedevaluationsfo">Table 3</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div id="saul-wilson.T.recommended_evaluations_fo" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with Saul-Wilson Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.T.recommended_evaluations_fo/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.T.recommended_evaluations_fo_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Constitutional</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of HT, WT, & HC</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for evidence of linear growth failure using SWS-specific growth charts.</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Gastrointestinal/</b>
|
||
<br />
|
||
<b>Feeding</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastroenterology / nutrition / feeding team eval</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Avoid overfeeding.</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Development</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To incl motor & speech/language eval</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Musculoskeletal</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Refer to physiatry clinic (OT/PT, rehab specialist).</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To evaluate fine & gross motor skills, mobility, & activities of daily living</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Refer to orthopedist.</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<ul><li class="half_rhythm"><div>Mgmt of clubfoot</div></li><li class="half_rhythm"><div>Assess osteoarticular pain.</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">Obtain history of bone fractures.</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Spine</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<ul><li class="half_rhythm"><div>Flexion-extension radiographs of lateral cervical spine</div></li><li class="half_rhythm"><div>Flexion-extension MRI if instability & compression seen on radiographs or interpretation is limited (e.g., in young individuals w/delayed ossification of cervical vertebral bodies)</div></li></ul>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluate for cervical instability & risk of spinal cord compression</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Eyes</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic eval</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To incl assessment for rod-cone dystrophy in individuals old enough to cooperate:
|
||
<ul><li class="half_rhythm"><div>BCVA</div></li><li class="half_rhythm"><div>Refractive error</div></li><li class="half_rhythm"><div>Assessment of dark adaptation</div></li><li class="half_rhythm"><div>Full-field ERG</div></li><li class="half_rhythm"><div>Spectral-<a class="def" href="/books/n/gene/glossary/def-item/domain/">domain</a> OCT</div></li></ul>
|
||
Young children: assess visual acuity & refractive error as a baseline.<br />Children & adolescents: assess for cataracts.</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Hearing</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Audiologic eval <sup>1</sup></td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for SNHL & conductive hearing loss.</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Hematology</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Complete blood count w/absolute neutrophil count</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To evaluate for neutropenia</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Liver</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Aspartate aminotransferase, alanine aminotransferase</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To evaluate for ↑ liver enzymes</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Miscellaneous/</b>
|
||
<br />
|
||
<b>Other</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consultation w/clinical geneticist &/or genetic counselor</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Family support & resources</td><td headers="hd_h_saul-wilson.T.recommended_evaluations_fo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess need for:
|
||
<ul><li class="half_rhythm"><div>Community or online <a href="#saul-wilson.Resources">resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a>;</div></li><li class="half_rhythm"><div>Social work involvement for parental support.</div></li></ul></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">BCVA = best-corrected Snellen visual acuity; BMD = bone mineral density; ERG = electroretinography; FTT = failure to thrive; HC = head circumference; HT = height; OCT = optical coherence tomography; OT = occupational therapy; PT = physical therapy; SNHL= sensorineural hearing loss; SWS = Saul-Wilson syndrome; WT = weight</p></div></dd><dt>1. </dt><dd><div id="saul-wilson.TF.3.1"><p class="no_margin">See <a href="/books/n/gene/deafness-overview/">Hereditary Hearing Loss and Deafness Overview</a> for details about audiologic evaluations.</p></div></dd></dl></div></div></div></div><div id="saul-wilson.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><div id="saul-wilson.T.treatment_of_manifestation" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Treatment of Manifestations in Individuals with Saul-Wilson Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.T.treatment_of_manifestation/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.T.treatment_of_manifestation_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/<br />Concern</th><th id="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Delayed</b>
|
||
<br />
|
||
<b>development</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="#saul-wilson.Developmental_Delay_Manageme">Developmental Delay Management Issues</a>.</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Musculoskeletal</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Skeletal dysplasia or physiatry clinic (orthopedics, OT/PT, rehab specialist)</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Address mobility issues in those w/residual foot deformities (post-club foot repair), osteoarticular pain.</td></tr><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cervical spine</b>
|
||
<br />
|
||
<b>compression</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Surgical mgmt for medullopathy (C1-C2 fixation) by expert familiar w/skeletal dysplasias & spine involvement</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Given possibility of C1-C2 subluxation &/or spinal cord compression, follow best practices in perioperative mgmt of those w/skeletal dysplasias. <sup>1</sup></td></tr><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cataract /</b>
|
||
<br />
|
||
<b>Retinal</b>
|
||
<br />
|
||
<b>dystrophy</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment(s) as recommended by ophthalmologist</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cataracts: Consider surgery when dense to prevent amblyopia<br />Retinal dystrophy:
|
||
<ul><li class="half_rhythm"><div>Night vision scopes or selected wavelength filters <sup>2</sup></div></li><li class="half_rhythm"><div>Community vision services in teen yrs / young adulthood <sup>3</sup></div></li></ul></td></tr><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Hearing loss</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per treating otolaryngologist:
|
||
<ul><li class="half_rhythm"><div>Myringotomy tubes</div></li><li class="half_rhythm"><div>Hearing aids</div></li></ul></td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Community hearing services through early intervention or school district <sup>4</sup></td></tr><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Neutropenia</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per treating immunologist or infectious disease specialist</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">If frequent infections: consider GCSF to improve absolute neutrophil counts. <sup>5</sup></td></tr><tr><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Family/</b>
|
||
<br />
|
||
<b>Community</b>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<ul><li class="half_rhythm"><div>Ensure appropriate social work involvement to connect families w/local resources, respite, & support.</div></li><li class="half_rhythm"><div>Coordinate care to manage multiple subspecialty appointments.</div></li></ul>
|
||
</td><td headers="hd_h_saul-wilson.T.treatment_of_manifestation_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider involvement in adaptive sports or Special Olympics.</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">GCSF = granulocyte colony-stimulating factor; OT = occupational therapist; PT = physical therapist</p></div></dd><dt>1. </dt><dd><div id="saul-wilson.TF.4.1"><p class="no_margin"><a class="bk_pop" href="#saul-wilson.REF.white.2017.2584">White et al [2017]</a>. Including cervical spine imaging prior to general anesthesia.</p></div></dd><dt>2. </dt><dd><div id="saul-wilson.TF.4.2"><p class="no_margin">See <a href="/books/n/gene/rp-overview/">Nonsyndromic Retinitis Pigmentosa Overview</a> for information about management.</p></div></dd><dt>3. </dt><dd><div id="saul-wilson.TF.4.3"><p class="no_margin">In the US, publicly funded agencies at the state level provide services for the visually impaired or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living.</p></div></dd><dt>4. </dt><dd><div id="saul-wilson.TF.4.4"><p class="no_margin">See <a href="/books/n/gene/deafness-overview/">Hereditary Hearing Loss and Deafness Overview</a> for information about management.</p></div></dd><dt>5. </dt><dd><div id="saul-wilson.TF.4.5"><p class="no_margin">
|
||
<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al [2020]</a>
|
||
</p></div></dd></dl></div></div></div><div id="saul-wilson.Developmental_Delay_Manageme"><h4>Developmental Delay Management Issues</h4><p>The following information represents typical management recommendations for individuals with developmental delay in the United States; standard recommendations may vary from country to country.</p><p><b>Ages 0-3 years.</b> Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.</p><p><b>Ages 3-5 years.</b> In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based.</p><p><b>All ages.</b> Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:</p><ul><li class="half_rhythm"><div>IEP services:</div><ul><li class="half_rhythm"><div>An IEP provides specially designed instruction and related services to children who qualify.</div></li><li class="half_rhythm"><div>IEP services will be reviewed annually to determine whether any changes are needed.</div></li><li class="half_rhythm"><div>Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate.</div></li><li class="half_rhythm"><div>Vision and hearing consultants should be a part of the child's IEP team to support access to academic material.</div></li><li class="half_rhythm"><div>PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.</div></li><li class="half_rhythm"><div>As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.</div></li></ul></li><li class="half_rhythm"><div>A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.</div></li><li class="half_rhythm"><div>Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.</div></li><li class="half_rhythm"><div>Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.</div></li></ul></div></div><div id="saul-wilson.Surveillance"><h3>Surveillance</h3><div id="saul-wilson.T.recommended_surveillance_f" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with Saul-Wilson Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.T.recommended_surveillance_f/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.T.recommended_surveillance_f_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Constitutional</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measure HT, WT, & HC using growth curves standardized for SWS.</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Development</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor developmental progress / educational needs.</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit in young children</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Musculoskeletal</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To evaluate fine & gross motor skills, mobility, & activities of daily living</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Assess osteoarticular pain.</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">At each visit starting in young adulthood</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">DXA scan for bone fragility</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">As needed based on history</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<ul><li class="half_rhythm"><div>Flexion-extension radiograph</div></li><li class="half_rhythm"><div>Flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs</div></li></ul>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per orthopedist based on clinical findings or planned surgery</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Eyes</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Complete eye exam for:
|
||
<ul><li class="half_rhythm"><div>Those known to have rod-cone dystrophy: BVCA, refractive error, dark adaptation, & visual field testing</div></li><li class="half_rhythm"><div>Those not known to have rod-cone dystrophy (See <a href="/books/NBK554080/table/saul-wilson.T.recommended_evaluations_fo/?report=objectonly" target="object" rid-ob="figobsaulwilsonTrecommendedevaluationsfo">Table 3</a>.)</div></li><li class="half_rhythm"><div>All patients: cataracts</div></li></ul></td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Hearing</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Audiologic eval to determine type & extent of hearing loss or success of intervention</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr><tr><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Other</b>
|
||
</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Obtain complete blood counts to assess neutrophil count.</td><td headers="hd_h_saul-wilson.T.recommended_surveillance_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually (or as needed during acute infections)</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">BCVA = best-corrected Snellen visual acuity; DXA = dual-energy x-ray absorptiometry; HC = head circumference; HT = height; SWS = Saul-Wilson syndrome; WT = weight</p></div></dd></dl></div></div></div></div><div id="saul-wilson.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Participation in gymnastics and jumping on a trampoline should be avoided until atlanto-axial instability is excluded.</p></div><div id="saul-wilson.Evaluation_of_Relatives_at_R"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#saul-wilson.Related_Genetic_Counseling_I">Genetic Counseling</a> for issues related to testing of at-risk relatives for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> purposes.</p></div><div id="saul-wilson.Pregnancy_Management"><h3>Pregnancy Management</h3><p>Pregnancy of an affected woman has not been documented to date, although regular menstrual cycles and a normal hormone profile in two adult females suggest no impairment of the ability to conceive [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2020.857">Ferreira et al 2020</a>].</p></div><div id="saul-wilson.Therapies_Under_Investigatio"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="saul-wilson.Genetic_Counseling"><h2 id="_saul-wilson_Genetic_Counseling_">Genetic Counseling</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="saul-wilson.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Saul-Wilson syndrome is an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> disorder typically caused by a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p></div><div id="saul-wilson.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>No individual with Saul-Wilson syndrome reported to date has had an affected parent.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>If the <i>COG4</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in the leukocyte DNA of either parent, the pathogenic variant most likely occurred <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> in the proband. Another possible explanation is <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> in a parent. Parental germline mosaicism is presumed in one family with two affected sibs.</div></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If a parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is affected and/or is known to have the <i>COG4</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the proband, the risk to the sibs is 50%.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a known SWS-related <i>COG4</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> that cannot be detected in the leukocyte DNA of either parent or the parents have not been tested for the <i>COG4</i> pathogenic variant but are clinically unaffected, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is slightly greater than that of the general population because of the possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Each child of an individual with SWS has a 50% chance of inheriting the SWS-related <i>COG4</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> The risk to other family members depends on the status of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents: if a parent has the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the parent's family members may be at risk.</p></div><div id="saul-wilson.Related_Genetic_Counseling_I"><h3>Related Genetic Counseling Issues</h3><p><b>Considerations in families with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</b> When neither parent of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> condition has the pathogenic variant identified in the proband or clinical evidence of the disorder, the pathogenic variant is likely <i>de novo</i>. However, non-medical explanations including <a class="def" href="/books/n/gene/glossary/def-item/alternate-paternity/">alternate paternity</a> or maternity (e.g., with assisted reproduction) and undisclosed adoption could also be explored.</p><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of potential risks to offspring and reproductive options) to young adults who are affected.</div></li></ul></div><div id="saul-wilson.Prenatal_Testing_and_Preimpl"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>COG4</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member, prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a>. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="saul-wilson.Resources"><h2 id="_saul-wilson_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>National Organization for Rare Disorders (NORD)</b>
|
||
</div><div><b>Phone:</b> 800-999-6673</div><div>
|
||
<a href="https://rarediseases.org/for-patients-and-families/help-access-medications/patient-assistance-programs-2/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RareCare® Patient Assistance Programs</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Skeletal Dysplasia Management Consortium</b>
|
||
</div><div>
|
||
<a href="https://www.skeletaldysplasia.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">skeletaldysplasia.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>UCLA International Skeletal Dysplasia Registry (ISDR)</b>
|
||
</div><div><b>Phone:</b> 310-825-8998</div><div>
|
||
<a href="https://www.uclahealth.org/ortho/isdr" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">International Skeletal Dysplasia Registry</a>
|
||
</div></li></ul>
|
||
</div><div id="saul-wilson.Molecular_Genetics"><h2 id="_saul-wilson_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div id="saul-wilson.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Saul-Wilson Syndrome: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_saul-wilson.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_saul-wilson.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_saul-wilson.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_saul-wilson.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_saul-wilson.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_saul-wilson.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_saul-wilson.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/25839" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>COG4</i>
|
||
</a>
|
||
</td><td headers="hd_b_saul-wilson.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=25839" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">16q22<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_b_saul-wilson.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/Q9H9E3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Conserved oligomeric Golgi complex subunit 4</a>
|
||
</td><td headers="hd_b_saul-wilson.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://databases.lovd.nl/shared/genes/COG4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">COG4 database</a>
|
||
</td><td headers="hd_b_saul-wilson.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=COG4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">COG4</a>
|
||
</td><td headers="hd_b_saul-wilson.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=COG4[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">COG4</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div id="saul-wilson.TFA.1"><p class="no_margin">Data are compiled from the following standard references: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> from
|
||
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
||
<a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> from
|
||
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
||
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
||
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
||
<a href="/books/n/gene/app1/">here</a>.</p></div></dd></dl></div></div></div><div id="saul-wilson.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Saul-Wilson Syndrome (<a href="/omim/606976,618150" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/606976" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">606976</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4; COG4</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/618150" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">618150</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">SAUL-WILSON SYNDROME; SWILS</td></tr></tbody></table></div></div><div id="saul-wilson.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p>COG4 is a subunit of the conserved oligomeric Golgi (COG) complex, a hetero-octameric protein complex that regulates vesicular trafficking between the Golgi apparatus and the endoplasmic reticulum (ER).</p><p><b>Mechanism of disease causation.</b> The distinct phenotypes, recurrent nature of the p.Gly516Arg variant, and accelerated (not delayed) retrograde Golgi-to-ER transport seen in cells support Saul-Wilson syndrome occurring through a <a class="def" href="/books/n/gene/glossary/def-item/gain-of-function/">gain-of-function</a> mechanism [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2018.553">Ferreira et al 2018</a>].</p><div id="saul-wilson.T.notable_cog4_pathogenic_va" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Notable <i>COG4</i> Pathogenic Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK554080/table/saul-wilson.T.notable_cog4_pathogenic_va/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__saul-wilson.T.notable_cog4_pathogenic_va_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment [Reference]</th></tr></thead><tbody><tr><td headers="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015386.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_015386<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_056201.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_056201<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1546G>A</td><td headers="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly516Arg</td><td headers="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:top;">Recurrent pathogenic variants w/evidence for <a class="def" href="/books/n/gene/glossary/def-item/gain-of-function/">gain-of-function</a> activity [<a class="bk_pop" href="#saul-wilson.REF.ferreira.2018.553">Ferreira et al 2018</a>]</td></tr><tr><td headers="hd_h_saul-wilson.T.notable_cog4_pathogenic_va_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">c.1546G>C</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the author. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>.hgvs.org</a>). See <a href="/books/n/gene/app3/">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl></div></div></div></div></div><div id="saul-wilson.Chapter_Notes"><h2 id="_saul-wilson_Chapter_Notes_">Chapter Notes</h2><div id="saul-wilson.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>20 February 2020 (bp) Review posted live</div></li><li class="half_rhythm"><div>4 October 2019 (cf) Original submission</div></li></ul><p>Note: Pursuant to 17 USC Section 105 of the United States Copyright Act, the <i>GeneReview</i> "Saul-Wilson Syndrome" is in the public domain in the United States of America.</p></div></div><div id="saul-wilson.References"><h2 id="_saul-wilson_References_">References</h2><div id="saul-wilson.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.chinen.2015.2834">Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T. Progressive hip joint subluxation in Saul-Wilson syndrome. <span><span class="ref-journal">Am J Med Genet A. </span>2015;<span class="ref-vol">167A</span>:2834–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26239279" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26239279</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.ferreira.2018.553">Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH, et al. A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation. <span><span class="ref-journal">Am J Hum Genet. </span>2018;<span class="ref-vol">103</span>:553–67.</span> [<a href="/pmc/articles/PMC6174323/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6174323</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30290151" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30290151</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.ferreira.2020.857">Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Defining the clinical phenotype of Saul-Wilson syndrome. <span><span class="ref-journal">Genet Med. </span>2020;<span class="ref-vol">22</span>:857–66.</span> [<a href="/pmc/articles/PMC7205587/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7205587</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31949312" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31949312</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.hersh.1994.194">Hersh JH, Joyce MR, Spranger J, Goatley EC, Lachman RS, Bhatt S, Rimoin DL. Microcephalic osteodysplastic dysplasia. <span><span class="ref-journal">Am J Med Genet. </span>1994;<span class="ref-vol">51</span>:194–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8074143" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8074143</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.saul.1982.102">Saul RA. Unknown cases. <span><span class="ref-journal">Proc Greenwood Genet Ctr. </span>1982;<span class="ref-vol">1</span>:102–5.</span></div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.saul.1990.388">Saul RA, Wilson WG. A new skeletal dysplasia in two unrelated boys. <span><span class="ref-journal">Am J Med Genet. </span>1990;<span class="ref-vol">35</span>:388–93.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2309787" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2309787</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.white.2017.2584">White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC, et al. Best practices in peri-operative management of patients with skeletal dysplasias. <span><span class="ref-journal">Am J Med Genet A. </span>2017;<span class="ref-vol">173</span>:2584–95.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28763154" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28763154</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.zemel.2011.3160">Zemel BS, Kalkwarf HJ, Gilsanz V, Lappe JM, Oberfield S, Shepherd JA, Frederick MM, Huang X, Lu M, Mahboubi S, Hangartner T, Winer KK. Revised reference curves for bone mineral content and areal bone mineral density according to age and sex for black and non-black children: results of the bone mineral density in childhood study. <span><span class="ref-journal">J Clin Endocrinol Metab. </span>2011;<span class="ref-vol">96</span>:3160–9.</span> [<a href="/pmc/articles/PMC3200252/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3200252</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21917867" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21917867</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="saul-wilson.REF.zemel.2010.1265">Zemel BS, Leonard MB, Kelly A, Lappe JM, Gilsanz V, Oberfield S, Mahboubi S, Shepherd JA, Hangartner TN, Frederick MM, Winer KK, Kalkwarf HJ. Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children. <span><span class="ref-journal">J Clin Endocrinol Metab. </span>2010;<span class="ref-vol">95</span>:1265–73.</span> [<a href="/pmc/articles/PMC2841534/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2841534</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20103654" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20103654</span></a>]</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div>
|
||
<div class="post-content"><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
|
||
a registered trademark of the University of Washington, Seattle. All rights
|
||
reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
|
||
hereby granted to reproduce, distribute, and translate copies of content materials for
|
||
noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
|
||
Washington) are included with each copy; (ii) a link to the original material is provided
|
||
whenever the material is published elsewhere on the Web; and (iii) reproducers,
|
||
distributors, and/or translators comply with the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
||
Disclaimer</a>. No further modifications are allowed. For clarity, excerpts
|
||
of GeneReviews chapters for use in lab reports and clinic notes are a permitted
|
||
use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
||
Disclaimer</a>.</p><p class="small">For questions regarding permissions or whether a specified use is allowed,
|
||
contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div><div class="small"><span class="label">Bookshelf ID: NBK554080</span><span class="label">PMID: <a href="https://pubmed.ncbi.nlm.nih.gov/32078278" title="PubMed record of this page" ref="pagearea=meta&targetsite=entrez&targetcat=link&targettype=pubmed">32078278</a></span></div><div style="margin-top:2em" class="bk_noprnt"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/sandhoff/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/schaaf-yang/" title="Next page in this title">Next ></a></div></div></div></div>
|
||
|
||
</div>
|
||
|
||
<!-- Custom content below content -->
|
||
<div class="col4">
|
||
|
||
</div>
|
||
|
||
|
||
<!-- Book content -->
|
||
|
||
<!-- Custom contetnt below bottom nav -->
|
||
<div class="col5">
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="rightcolumn" class="four_col col last">
|
||
<!-- Custom content above discovery portlets -->
|
||
<div class="col6">
|
||
<div id="ncbi_share_book"><a href="#" class="ncbi_share" data-ncbi_share_config="popup:false,shorten:true" ref="id=NBK554080&db=books">Share</a></div>
|
||
|
||
</div>
|
||
<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK554080/?report=reader">PubReader</a></li><li><a href="/books/NBK554080/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK554080" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK554080" style="display:none" title="Cite this Page"><div class="bk_tt">Ferreira C. Saul-Wilson Syndrome. 2020 Feb 20. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></div></div></li><li><a href="/books/NBK554080/pdf/Bookshelf_NBK554080.pdf">PDF version of this page</a> (1.2M)</li><li><a href="#" class="toggle-glossary-link" title="Enable/disable links to the glossary">Disable Glossary Links</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this GeneReview</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#saul-wilson.Summary" ref="log$=inpage&link_id=inpage">Summary</a></li><li><a href="#saul-wilson.Diagnosis" ref="log$=inpage&link_id=inpage">Diagnosis</a></li><li><a href="#saul-wilson.Clinical_Characteristics" ref="log$=inpage&link_id=inpage">Clinical Characteristics</a></li><li><a href="#saul-wilson.Genetically_Related_Allelic" ref="log$=inpage&link_id=inpage">Genetically Related (Allelic) Disorders</a></li><li><a href="#saul-wilson.Differential_Diagnosis" ref="log$=inpage&link_id=inpage">Differential Diagnosis</a></li><li><a href="#saul-wilson.Management" ref="log$=inpage&link_id=inpage">Management</a></li><li><a href="#saul-wilson.Genetic_Counseling" ref="log$=inpage&link_id=inpage">Genetic Counseling</a></li><li><a href="#saul-wilson.Resources" ref="log$=inpage&link_id=inpage">Resources</a></li><li><a href="#saul-wilson.Molecular_Genetics" ref="log$=inpage&link_id=inpage">Molecular Genetics</a></li><li><a href="#saul-wilson.Chapter_Notes" ref="log$=inpage&link_id=inpage">Chapter Notes</a></li><li><a href="#saul-wilson.References" ref="log$=inpage&link_id=inpage">References</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Bulk Download</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/litarch/ca/84/" ref="pagearea=source-links&targetsite=external&targetcat=link&targettype=uri">Bulk download GeneReviews data from FTP</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>GeneReviews Links</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/n/gene/advanced/"><i>GeneReviews</i> Advanced Search</a></li><li><a href="/books/n/gene/glossary/"><i>GeneReviews</i> Glossary</a></li><li><a href="/books/n/gene/resource_mats/">Resource Materials</a> <span class="bk_hlight1">NEW FEATURE</span></li><li><a href="/books/n/gene/updates/">New in <i>GeneReviews</i></a></li><li><a href="/books/n/gene/authors/">Author List</a></li><li><a href="/books/n/gene/prospective_authors/">For Current/Prospective Authors</a></li><li><a href="/books/n/gene/GRpersonnel/"><i>GeneReviews</i> Personnel</a></li><li><a href="/books/n/gene/howto_linkin/">Download/Link to <i>GeneReviews</i></a></li><li><a href="/books/n/gene/contact_us/">Contact Us</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Tests in GTR by Gene</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=25839[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">COG4</a>
|
||
</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=omim&DbFrom=books&Cmd=Link&LinkName=books_omim&IdsFromResult=4936780" ref="log$=recordlinks">OMIM</a><div class="brieflinkpop offscreen_noflow">Related OMIM records</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=4936780" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=4936780" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=gene&DbFrom=books&Cmd=Link&LinkName=books_gene&IdsFromResult=4936780" ref="log$=recordlinks">Gene</a><div class="brieflinkpop offscreen_noflow">Locus Links</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301377" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Phelan-McDermid Syndrome-SHANK3 Related.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Phelan-McDermid Syndrome-SHANK3 Related.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Phelan K, Rogers RC, Boccuto L. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/24830047" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Autosomal Dominant TRPV4 Disorders.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Autosomal Dominant TRPV4 Disorders.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/37200470" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> TET3-Related Beck-Fahrner Syndrome.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> TET3-Related Beck-Fahrner Syndrome.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Fahrner JA. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301510" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> FBN1-Related Marfan Syndrome.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> FBN1-Related Marfan Syndrome.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Dietz H. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301736" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> FLNB Disorders.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> FLNB Disorders.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Robertson S. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=32078278" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=32078278" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5528a67c23b31e09ecb58">Saul-Wilson Syndrome - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Saul-Wilson Syndrome - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d55289cde49f3df7cb27dc">Table B. [OMIM Entries for Saul-Wilson Syndrome (View All in OMIM)]. - GeneRevie...</a><div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Saul-Wilson Syndrome (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5527084f3725e59235aa8">RecName: Full=Conserved oligomeric Golgi complex subunit 4; Short=COG complex su...</a><div class="ralinkpop offscreen_noflow">RecName: Full=Conserved oligomeric Golgi complex subunit 4; Short=COG complex subunit 4; AltName: Full=Component of oligomeric Golgi complex 4<div class="brieflinkpopdesc">gi|311033464|sp|Q9H9E3.3|COG4_HUMAN</div></div><div class="tertiary">Protein</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d5526d84f3725e59234f79">Homo sapiens chromosome 16 clone RP11-49C24, complete sequence</a><div class="ralinkpop offscreen_noflow">Homo sapiens chromosome 16 clone RP11-49C24, complete sequence<div class="brieflinkpopdesc">gi|29029239|gnl|lanlchgs|49C24|gb|A 04.4|</div></div><div class="tertiary">Nucleotide</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d5526367c23b31e09e262b">Microcephalic osteodysplastic dysplasia, Saul-Wilson type</a><div class="ralinkpop offscreen_noflow">Microcephalic osteodysplastic dysplasia, Saul-Wilson type<div class="brieflinkpopdesc"></div></div><div class="tertiary">MedGen</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
|
||
|
||
<!-- Custom content below discovery portlets -->
|
||
<div class="col7">
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- Custom content after all -->
|
||
<div class="col8">
|
||
|
||
</div>
|
||
<div class="col9">
|
||
|
||
</div>
|
||
|
||
<script type="text/javascript" src="/corehtml/pmc/js/jquery.scrollTo-1.4.2.js"></script>
|
||
<script type="text/javascript">
|
||
(function($){
|
||
$('.skiplink').each(function(i, item){
|
||
var href = $($(item).attr('href'));
|
||
href.attr('tabindex', '-1').addClass('skiptarget'); // ensure the target can receive focus
|
||
$(item).on('click', function(event){
|
||
event.preventDefault();
|
||
$.scrollTo(href, 0, {
|
||
onAfter: function(){
|
||
href.focus();
|
||
}
|
||
});
|
||
});
|
||
});
|
||
})(jQuery);
|
||
</script>
|
||
</div>
|
||
<div class="bottom">
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="Breadcrumbs" label="breadcrumbs"/>
|
||
<component id="Breadcrumbs" label="helpdesk"/>-->
|
||
|
||
</div>
|
||
|
||
<div class="footer" id="footer">
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11 {
|
||
fill: #737373;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>Twitter</title>
|
||
<path class="cls-11" d="M250.11,105.48c-7,3.14-13,3.25-19.27.14,8.12-4.86,8.49-8.27,11.43-17.46a78.8,78.8,0,0,1-25,9.55,39.35,39.35,0,0,0-67,35.85,111.6,111.6,0,0,1-81-41.08A39.37,39.37,0,0,0,81.47,145a39.08,39.08,0,0,1-17.8-4.92c0,.17,0,.33,0,.5a39.32,39.32,0,0,0,31.53,38.54,39.26,39.26,0,0,1-17.75.68,39.37,39.37,0,0,0,36.72,27.3A79.07,79.07,0,0,1,56,223.34,111.31,111.31,0,0,0,116.22,241c72.3,0,111.83-59.9,111.83-111.84,0-1.71,0-3.4-.1-5.09C235.62,118.54,244.84,113.37,250.11,105.48Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
|
||
<defs><style>.cls-1{fill:#737373;}</style></defs>
|
||
<title>NCBI Insights Blog</title>
|
||
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
|
||
</svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer"><svg xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" version="1.1" x="0px" y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<style type="text/css">
|
||
.st20 {
|
||
fill: #FFFFFF;
|
||
}
|
||
|
||
.st30 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
</style>
|
||
<title>Twitter</title>
|
||
<g>
|
||
<g>
|
||
<g>
|
||
<path class="st20" d="M192.9,88.1c-5,2.2-9.2,2.3-13.6,0.1c5.7-3.4,6-5.8,8.1-12.3c-5.4,3.2-11.4,5.5-17.6,6.7 c-10.5-11.2-28.1-11.7-39.2-1.2c-7.2,6.8-10.2,16.9-8,26.5c-22.3-1.1-43.1-11.7-57.2-29C58,91.6,61.8,107.9,74,116 c-4.4-0.1-8.7-1.3-12.6-3.4c0,0.1,0,0.2,0,0.4c0,13.2,9.3,24.6,22.3,27.2c-4.1,1.1-8.4,1.3-12.5,0.5c3.6,11.3,14,19,25.9,19.3 c-11.6,9.1-26.4,13.2-41.1,11.5c12.7,8.1,27.4,12.5,42.5,12.5c51,0,78.9-42.2,78.9-78.9c0-1.2,0-2.4-0.1-3.6 C182.7,97.4,189.2,93.7,192.9,88.1z"></path>
|
||
</g>
|
||
</g>
|
||
<circle class="st30" cx="124.4" cy="128.8" r="108.2"></circle>
|
||
</g>
|
||
</svg></a></li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" version="1.1" x="0px" y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<style type="text/css">
|
||
.st10 {
|
||
fill: #FFFFFF;
|
||
}
|
||
|
||
.st110 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
</style>
|
||
<title>Facebook</title>
|
||
<g>
|
||
<g>
|
||
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9 v67.5H135v-67.5h21.7L159,99.1z"></path>
|
||
</g>
|
||
</g>
|
||
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer"><svg xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" version="1.1" x="0px" y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<title>Youtube</title>
|
||
<style type="text/css">
|
||
.st4 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
|
||
.st5 {
|
||
fill: #FFFFFF;
|
||
}
|
||
</style>
|
||
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
|
||
<g transform="translate(0,-952.36218)">
|
||
<path class="st5" d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7 v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
|
||
</g>
|
||
</svg></a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br />
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<!--/.page-->
|
||
</div>
|
||
<!--/.wrap-->
|
||
</div><!-- /.twelve_col -->
|
||
</div>
|
||
<!-- /.grid -->
|
||
|
||
<span class="PAFAppResources"></span>
|
||
|
||
<!-- BESelector tab -->
|
||
|
||
|
||
|
||
<noscript><img alt="statistics" src="/stat?jsdisabled=true&ncbi_db=books&ncbi_pdid=book-part&ncbi_acc=NBK554080&ncbi_domain=gene&ncbi_report=classic&ncbi_type=fulltext&ncbi_objectid=&ncbi_pcid=/NBK554080/?report=classic&ncbi_pagename=Saul-Wilson Syndrome - GeneReviews® - NCBI Bookshelf&ncbi_bookparttype=chapter&ncbi_app=bookshelf" /></noscript>
|
||
|
||
|
||
<!-- usually for JS scripts at page bottom -->
|
||
<!--<component id="PageFixtures" label="styles"></component>-->
|
||
|
||
|
||
<!-- CE8B5AF87C7FFCB1_0191SID /projects/books/PBooks@9.11 portal104 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
||
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
||
|
||
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/js/3879255/4121861/3501987/4008961/3893018/3821238/4062932/4209313/4212053/4076480/3921943/3400083/3426610.js" snapshot="books"></script></body>
|
||
</html> |