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Entry
- #180860 - SILVER-RUSSELL SYNDROME 1; SRS1
- OMIM
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<span class="h4">#180860</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/180860"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS180860"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=SILVER-RUSSELL SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:14681" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/180860" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:14681" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:180860" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 15069006<br />
<strong>ICD10CM:</strong> Q87.19<br />
<strong>ORPHA:</strong> 813<br />
<strong>DO:</strong> 14681<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
180860
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SILVER-RUSSELL SYNDROME 1; SRS1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
RUSSELL-SILVER SYNDROME; RSS<br />
SILVER-RUSSELL DWARFISM
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/71?start=-3&limit=10&highlight=71">
11p15.5
</a>
</span>
</td>
<td>
<span class="mim-font">
Silver-Russell syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180860"> 180860 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
ICR1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616186"> 616186 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/180860" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS180860" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/180860" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/180860" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
Postnatal growth retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span><br /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
Absent postnatal catch-up growth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435627</a>]</span><br /> -
Low body mass index (BMI) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435628</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/467861000124107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">467861000124107</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6497000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6497000</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Relative macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3961000119101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3961000119101</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004482</a>]</span><br /> -
Delayed closure of anterior fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/295091000119100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">295091000119100</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3840083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3840083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001476</a>]</span><br /> -
Large anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Triangular face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Triangular-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Prominent forehead (early childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435630</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Retrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035353</a>, <a href="https://bioportal.bioontology.org/search?q=C3494422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Retrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Downturned corners of mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866195&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866195</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002714</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002714</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5c723b1624611f01765e9a80de6b5b31" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Mouth,Downturned_Corners_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5c723b1624611f01765e9a80de6b5b31&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Thin lips <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301348000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301348000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Feeding problems (early childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435629</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274540003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed closure of anterior fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/295091000119100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">295091000119100</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3840083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3840083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001476</a>]</span><br /> -
Large anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asymmetry of arms and/or legs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867115</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ulnar deviation of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435631</a>]</span><br /> -
Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br /> -
Fifth finger brachydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009237" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009237</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009237" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009237</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Body asymmetry <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1171325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1171325</a>]</span><br /> -
Imprinted disorder<br /> -
Maternal 11p15 duplications associated with fetal growth retardation<br /> -
Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1, <a href="/entry/616186">616186</a>)<br />
</span>
</div>
</div>
</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Silver-Russell syndrome
- <a href="/phenotypicSeries/PS180860">PS180860</a>
- 5 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/216?start=-3&limit=10&highlight=216"> 7p13-q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618905"> Silver-Russell syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618905"> 618905 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618905"> SRS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618905"> 618905 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/280?start=-3&limit=10&highlight=280"> 8q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618907"> Silver-Russell syndrome 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618907"> 618907 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603026"> PLAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603026"> 603026 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/71?start=-3&limit=10&highlight=71"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180860"> Silver-Russell syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180860"> 180860 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616186"> ICR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616186"> 616186 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/72?start=-3&limit=10&highlight=72"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616489"> Silver-Russell syndrome 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616489"> 616489 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147470"> IGF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147470"> 147470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/589?start=-3&limit=10&highlight=589"> 12q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618908"> Silver-Russell syndrome 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618908"> 618908 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600698"> HMGA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600698"> 600698 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because 20 to 60% of cases of Silver-Russell syndrome (SRS) are caused by the epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1; <a href="/entry/616186">616186</a>) on chromosome 11p15.5. ICR1 regulates the imprinted expression of H19 (<a href="/entry/103280">103280</a>) and IGF2 (<a href="/entry/147470">147470</a>).</p>
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<strong>Description</strong>
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</h4>
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<p>Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; <a href="/entry/130650">130650</a>), an overgrowth syndrome (<a href="#9" class="mim-tip-reference" title="Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., Baumer, A. &lt;strong&gt;Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 192-197, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19066168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19066168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061820&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19066168">Bartholdi et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19066168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Silver-Russell Syndrome</em></strong></p><p>
SRS2 (<a href="/entry/618905">618905</a>) is caused by maternal uniparental disomy of chromosome 7. SRS3 (<a href="/entry/616489">616489</a>) is caused by mutation in the IGF2 gene (<a href="/entry/147470">147470</a>) on chromosome 11p15. SRS4 (<a href="/entry/618907">618907</a>) is caused by mutation in the PLAG1 gene (<a href="/entry/603026">603026</a>) on chromosome 8q12. SRS5 (<a href="/entry/618908">618908</a>) is caused by mutation in the HMGA2 gene (<a href="/entry/600698">600698</a>) on chromosome 12q14.</p>
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<p>Silver-Russell syndrome (SRS) was reported independently by <a href="#43" class="mim-tip-reference" title="Silver, H. K., Kiyasu, W., George, J., Deamer, W. C. &lt;strong&gt;Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.&lt;/strong&gt; Pediatrics 12: 368-376, 1953.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13099907/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13099907&lt;/a&gt;]" pmid="13099907">Silver et al. (1953)</a> and <a href="#40" class="mim-tip-reference" title="Russell, A. &lt;strong&gt;A syndrome of intra-uterine-dwarfism recognizable at birth with cranio-facial dysostosis, disproportionate short arms, and other anomalies (5 examples).&lt;/strong&gt; Proc. Roy. Soc. Med. 47: 1040-1044, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13237189/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13237189&lt;/a&gt;]" pmid="13237189">Russell (1954)</a>. <a href="#43" class="mim-tip-reference" title="Silver, H. K., Kiyasu, W., George, J., Deamer, W. C. &lt;strong&gt;Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.&lt;/strong&gt; Pediatrics 12: 368-376, 1953.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13099907/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13099907&lt;/a&gt;]" pmid="13099907">Silver et al. (1953)</a> described 2 unrelated children with congenital hemihypertrophy, low birth weight, short stature, and elevated urinary gonadotropins. <a href="#40" class="mim-tip-reference" title="Russell, A. &lt;strong&gt;A syndrome of intra-uterine-dwarfism recognizable at birth with cranio-facial dysostosis, disproportionate short arms, and other anomalies (5 examples).&lt;/strong&gt; Proc. Roy. Soc. Med. 47: 1040-1044, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13237189/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13237189&lt;/a&gt;]" pmid="13237189">Russell (1954)</a> described 5 unrelated children with intrauterine growth retardation and characteristic facial features, including triangular shaped face with a broad forehead and pointed, small chin with a wide, thin mouth. Two children had body asymmetry. Although each of these authors emphasized different phenotypic features, the whole picture was later identified as the 'Russell-Silver syndrome' (<a href="#33" class="mim-tip-reference" title="Patton, M. A. &lt;strong&gt;Russell-Silver syndrome.&lt;/strong&gt; J. Med. Genet. 25: 557-560, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3050100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3050100&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.8.557&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3050100">Patton, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13237189+3050100+13099907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Chitayat, D., Friedman, J. M., Anderson, L., Dimmick, J. E. &lt;strong&gt;Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 31: 909-914, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2853572/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2853572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320310425&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2853572">Chitayat et al. (1988)</a> described hepatocellular carcinoma in a 4-year-old boy with Russell-Silver syndrome. His brother had low birth weight and bilateral clinodactyly of the fifth fingers and grew slowly. Neither brother showed asymmetry. <a href="#15" class="mim-tip-reference" title="Donnai, D., Thompson, E., Allanson, J., Baraitser, M. &lt;strong&gt;Severe Silver-Russell syndrome.&lt;/strong&gt; J. Med. Genet. 26: 447-451, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2746617/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2746617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.7.447&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2746617">Donnai et al. (1989)</a> described unusually severe Silver-Russell syndrome in 3 children with pre- and postnatal growth deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2853572+2746617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C. &lt;strong&gt;The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.&lt;/strong&gt; J. Med. Genet. 36: 837-842, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10544228/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10544228&lt;/a&gt;]" pmid="10544228">Price et al. (1999)</a> reevaluated 57 patients in whom the diagnosis of SRS had been considered definite or likely. In 50 patients the clinical findings complied with a very broad definition of SRS. Notable additional findings included generalized camptodactyly in 11 individuals, many with distal arthrogryposis. Thirteen of the 25 males studied required genital surgery for conditions including hypospadias and inguinal hernia. Severe feeding problems were reported by 56% of parents, and sweating and pallor were described by 52% of parents in the early weeks of life. Fourteen of the 38 individuals of school age had been considered for special education; 4 attended special school. Molecular analysis in 42 subjects identified uniparental disomy (UPD) of chromosome 7 in 4 subjects. The phenotype in these 4 cases was generally milder than that in the non-UPD cases, with only 2 having the classic facial dysmorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10544228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Anderson, J., Viskochil, D., O&#x27;Gorman, M., Gonzales, C. &lt;strong&gt;Gastrointestinal complications of Russell-Silver syndrome: a pilot study.&lt;/strong&gt; Am. J. Med. Genet. 113: 15-19, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12400060/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12400060&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10667&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12400060">Anderson et al. (2002)</a> conducted a study of gastrointestinal complications of SRS by questionnaire distributed by MAGIC, a support group for individuals with SRS. One-hundred thirty-five completed surveys were returned, of which 65 related to children with clear-cut SRS. Of these, 50 (77%) had gastrointestinal symptoms: gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12400060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Andersson Gronlund, M., Dahlgren, J., Aring, E., Kraemer, M., Hellstrom, A. &lt;strong&gt;Ophthalmological findings in children and adolescents with Silver-Russell syndrome.&lt;/strong&gt; Brit. J. Ophthal. 95: 637-641, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20805133/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20805133&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2010.184457&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20805133">Andersson Gronlund et al. (2011)</a> identified ophthalmologic abnormalities in 17 of 18 children with Silver-Russell syndrome. Best corrected visual acuity of the better eye was less than 0.1 log of the minimal angle of resolution (less than 20/200; legal blindness) in 11 children, and 11 children had refractive errors. Anisometropia (greater than 1 diopter) was noted in 3 children. Subnormal stereo acuity and near point of convergence were found in 2 of 16 children. The total axial length in both eyes was shorter compared with that of controls. Of 16 children, 3 had small optic discs, 3 had large cup:disc ratio, and 4 had increased tortuosity of retinal vessels. <a href="#5" class="mim-tip-reference" title="Andersson Gronlund, M., Dahlgren, J., Aring, E., Kraemer, M., Hellstrom, A. &lt;strong&gt;Ophthalmological findings in children and adolescents with Silver-Russell syndrome.&lt;/strong&gt; Brit. J. Ophthal. 95: 637-641, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20805133/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20805133&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2010.184457&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20805133">Andersson Gronlund et al. (2011)</a> recommended ophthalmologic examination for children with SRS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Lokulo-Sodipe, O., Ballard, L., Child, J., Inskip, H. M., Byrne, C. D., Ishida, M., Moore, G. E., Wakeling, E. L., Fenwick, A., Mackay, D. J. G., Davies, J. H., Temple, I. K. &lt;strong&gt;Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.&lt;/strong&gt; J. Med. Genet. 57: 683-691, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32054688/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32054688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2019-106561&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32054688">Lokulo-Sodipe et al. (2020)</a> described the clinical features of RSS in a cohort of 33 patients aged 13 years and older (median age, 29.6 years). Most of the patients (60.6%) had height below 2 standard deviations (median, -2.67) despite 70% having received growth hormone treatment. Characteristic childhood dysmorphisms seen in RSS, including triangular face, broad nasal tip, broad nasal bridge, retrognathia, and downslanting palpebral fissures, were seen in only a minority of patients. Features seen more commonly in this cohort included a broad forehead and facial dysmorphism (45%), relative macrocephaly (57.6%), low-set ears (57.6%), and posteriorly rotated ears (54.5%). Feeding issues were not commonly reported, although 18.2% had gastroesophageal reflux. In patients aged 18 years and older, 25% had impaired glucose tolerance, 33% had hypertension, and 52% had hypercholesterolemia. University degrees were completed in 40% of patients aged 21 years and older, which was consistent with educational achievement in the general UK population. There was not a significant correlation between quality of life assessment scores and height, although there was a negative correlation with BMI. Among the 25 patients aged 18 years or older, 9 had children, none of whom had RSS. <a href="#27" class="mim-tip-reference" title="Lokulo-Sodipe, O., Ballard, L., Child, J., Inskip, H. M., Byrne, C. D., Ishida, M., Moore, G. E., Wakeling, E. L., Fenwick, A., Mackay, D. J. G., Davies, J. H., Temple, I. K. &lt;strong&gt;Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.&lt;/strong&gt; J. Med. Genet. 57: 683-691, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32054688/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32054688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2019-106561&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32054688">Lokulo-Sodipe et al. (2020)</a> concluded that the diagnosis of RSS in adults is difficult and requires molecular confirmation because many of the typical characteristics of RSS in childhood are not present in adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32054688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#38" class="mim-tip-reference" title="Rimoin, D. L. &lt;strong&gt;The Silver syndrome in twins.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 183-187, 1969."None>Rimoin (1969)</a> described monozygotic male twins concordant for Silver dwarfism. However, <a href="#31" class="mim-tip-reference" title="Nyhan, W. L., Sakati, N. O. &lt;strong&gt;Silver syndrome: Silver-Russell syndrome, Russell-Silver syndrome. In: Genetic and Malformation Syndromes in Clinical Medicine.&lt;/strong&gt; Chicago: Year Book Med. Pub. 1976. Pp. 298-300."None>Nyhan and Sakati (1976)</a> and <a href="#41" class="mim-tip-reference" title="Samn, M., Lewis, K., Blumberg, B. &lt;strong&gt;Monozygotic twins discordant for the Russell-Silver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 37: 543-545, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2260605/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2260605&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2260605">Samn et al. (1990)</a> described monozygotic twins discordant for RSS. <a href="#8" class="mim-tip-reference" title="Bailey, W., Popovich, B., Jones, K. L. &lt;strong&gt;Monozygotic twins discordant for the Russell-Silver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 58: 101-105, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8533797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8533797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8533797">Bailey et al. (1995)</a> described triplets, one of whom had RSS. The evidence was strong that he and his triplet brother were monozygotic; the brother was unaffected. The clinical characteristics consistent with RSS were a birth weight of less than 3 SD below the mean for gestational age and lower than either of his same-gestation sibs. The affected child had a small head circumference and a short birth length. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2260605+8533797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Fuleihan, D. S., Der Kaloustian, V. M., Najjar, S. S. &lt;strong&gt;The Russell-Silver syndrome: report of three siblings.&lt;/strong&gt; J. Pediat. 78: 654-657, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5547822/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5547822&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(71)80469-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5547822">Fuleihan et al. (1971)</a> observed 3 affected sibs among the 6 offspring of consanguineous Lebanese parents. Craniofacial disproportion and other minor anomalies were present. The mother was very short. Another possible familial occurrence was observed by Silver (cited by <a href="#22" class="mim-tip-reference" title="Gareis, F. J., Smith, D. W., Summitt, R. L. &lt;strong&gt;The Russell-Silver syndrome without asymmetry.&lt;/strong&gt; J. Pediat. 79: 775-781, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5116700/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5116700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(71)80390-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5116700">Gareis et al., 1971</a>), who found that the mother of one of his cases was only 59 inches tall and had triangular facies and incurved fifth fingers. <a href="#46" class="mim-tip-reference" title="Tanner, J. M., Lejarraga, H., Cameron, N. &lt;strong&gt;The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases.&lt;/strong&gt; Pediat. Res. 9: 611-623, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/168551/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;168551&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-197508000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="168551">Tanner et al. (1975)</a> reported on a longitudinal study of 39 cases. None of 61 sibs was affected. The authors found no distinction between Silver and Russell syndromes. <a href="#20" class="mim-tip-reference" title="Escobar, V., Gleiser, S., Weaver, D. D. &lt;strong&gt;Phenotypic and genetic analysis of the Silver-Russell syndrome.&lt;/strong&gt; Clin. Genet. 13: 278-288, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/639337/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;639337&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1978.tb01182.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="639337">Escobar et al. (1978)</a> reported affected half brother and sister and reviewed reported familial cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5547822+639337+5116700+168551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Duncan, P. A., Hall, J. G., Shapiro, L. R., Vibert, B. K. &lt;strong&gt;Three-generation dominant transmission of the Silver-Russell syndrome.&lt;/strong&gt; Am. J. Med. Genet. 35: 245-250, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2178417/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2178417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320350220&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2178417">Duncan et al. (1990)</a> reported 7 affected persons in two 3-generation families. Three members of each family had an undergrowth of the left side of the body when compared with the normal right side. The authors noted that the clinical features were milder than those reported in sporadic cases. <a href="#17" class="mim-tip-reference" title="Duncan, P. A., Hall, J. G., Shapiro, L. R., Vibert, B. K. &lt;strong&gt;Three-generation dominant transmission of the Silver-Russell syndrome.&lt;/strong&gt; Am. J. Med. Genet. 35: 245-250, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2178417/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2178417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320350220&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2178417">Duncan et al. (1990)</a> found that in 17 reported families, multiple maternal relatives had complete or partial expression of Silver-Russell syndrome. Of 197 probands analyzed, 19% had one or more affected relatives. Two families with affected twins were consistent with new dominant mutation; possible autosomal recessive inheritance was found in 4 families. Because no male-to-male transmission was documented in 21 families in the literature or in the 2 families reported by <a href="#17" class="mim-tip-reference" title="Duncan, P. A., Hall, J. G., Shapiro, L. R., Vibert, B. K. &lt;strong&gt;Three-generation dominant transmission of the Silver-Russell syndrome.&lt;/strong&gt; Am. J. Med. Genet. 35: 245-250, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2178417/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2178417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320350220&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2178417">Duncan et al. (1990)</a>, they suggested that X-linked dominant inheritance is a possibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2178417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Al-Fifi, S., Teebi, A. S., Shevell, M. &lt;strong&gt;Autosomal dominant Russell-Silver syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 61: 96-97, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8741931/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8741931&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320610108&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8741931">Al-Fifi et al. (1996)</a> reported 2 families with apparent autosomal dominant transmission of RSS. In 1 family, the mother (height 140 cm) and a son and daughter of hers were affected. The mother's father was remarkably short and thin until his late teens, but was later of normal height (25th centile) with triangular face, mild asymmetry, and prominent ears. In the second family, the mother's height and weight were below the third percentile for age before puberty. After puberty, her height reached the 25th percentile but she remained thin. A son and daughter were thought to be affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8741931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Ounap, K., Reimand, T., Magi, M.-L., Bartsch, O. &lt;strong&gt;Two sisters with Silver-Russell phenotype.&lt;/strong&gt; Am. J. Med. Genet. 131A: 301-306, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15523618/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15523618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30379&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15523618">Ounap et al. (2004)</a> described 2 sisters who met the criteria for SRS proposed by <a href="#36" class="mim-tip-reference" title="Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C. &lt;strong&gt;The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.&lt;/strong&gt; J. Med. Genet. 36: 837-842, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10544228/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10544228&lt;/a&gt;]" pmid="10544228">Price et al. (1999)</a>. The parents had normal facial features, normal height, and normal postnatal growth. <a href="#32" class="mim-tip-reference" title="Ounap, K., Reimand, T., Magi, M.-L., Bartsch, O. &lt;strong&gt;Two sisters with Silver-Russell phenotype.&lt;/strong&gt; Am. J. Med. Genet. 131A: 301-306, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15523618/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15523618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30379&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15523618">Ounap et al. (2004)</a> stated that this was the second well-documented case of familial recurrence of SRS suggesting autosomal recessive inheritance, the other being that of 6 sibs (5 males and 1 female) of normal first-cousin Arab parents (<a href="#47" class="mim-tip-reference" title="Teebi, A. S. &lt;strong&gt;Autosomal recessive Silver-Russell syndrome.&lt;/strong&gt; Clin. Dysmorph. 1: 151-156, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1285272/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1285272&lt;/a&gt;]" pmid="1285272">Teebi, 1992</a>). In the family reported by <a href="#32" class="mim-tip-reference" title="Ounap, K., Reimand, T., Magi, M.-L., Bartsch, O. &lt;strong&gt;Two sisters with Silver-Russell phenotype.&lt;/strong&gt; Am. J. Med. Genet. 131A: 301-306, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15523618/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15523618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30379&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15523618">Ounap et al. (2004)</a>, <a href="#9" class="mim-tip-reference" title="Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., Baumer, A. &lt;strong&gt;Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 192-197, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19066168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19066168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061820&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19066168">Bartholdi et al. (2009)</a> identified hypomethylation at chromosome 11p15. <a href="#9" class="mim-tip-reference" title="Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., Baumer, A. &lt;strong&gt;Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 192-197, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19066168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19066168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061820&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19066168">Bartholdi et al. (2009)</a> also reported another family in which 2 sibs had SRS associated with hypomethylation at 11p15. The authors postulated germ cell mosaicism of an incorrect methylation mark at the ICR1 during spermatogenesis in the fathers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19066168+1285272+10544228+15523618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., Baumer, A. &lt;strong&gt;Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 192-197, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19066168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19066168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061820&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19066168">Bartholdi et al. (2009)</a> reported a father and daughter with SRS who both had partial hypomethylation at chromosome 11p15, suggesting vertical transmission. Although the mechanism was difficult to explain, the authors postulated that the missing methylation mark in the father was not reset or corrected (setting of a methylation mark) during spermatogenesis. The findings had implications for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19066168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p>On the basis of radiographs of 15 patients, <a href="#24" class="mim-tip-reference" title="Herman, T. E., Crawford, J. D., Cleveland, R. H., Kushner, D. C. &lt;strong&gt;Hand radiographs in Russell-Silver syndrome.&lt;/strong&gt; Pediatrics 79: 743-744, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3575032/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3575032&lt;/a&gt;]" pmid="3575032">Herman et al. (1987)</a> concluded that no single finding is pathognomonic; however, between the ages of 2 and 10 years, delayed maturation, clinodactyly, fifth middle or distal phalangeal hypoplasia, ivory epiphyses, and a second metacarpal pseudoepiphysis are suggestive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3575032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C. &lt;strong&gt;The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.&lt;/strong&gt; J. Med. Genet. 36: 837-842, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10544228/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10544228&lt;/a&gt;]" pmid="10544228">Price et al. (1999)</a> proposed diagnostic criteria for SRS: (1) birth weight below or equal to -2 SD from the mean; (2) poor postnatal growth below or equal to -2 SD from the mean at diagnosis; (3) preservation of occipitofrontal head circumference (OFC); (4) classic facial phenotype; and (5) asymmetry. <a href="#36" class="mim-tip-reference" title="Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C. &lt;strong&gt;The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.&lt;/strong&gt; J. Med. Genet. 36: 837-842, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10544228/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10544228&lt;/a&gt;]" pmid="10544228">Price et al. (1999)</a> noted that some cases associated with uniparental disomy (UDP) (see below) might remain undiagnosed if strict criteria are applied, and suggested that the presence of feeding difficulties may be particularly helpful in making a diagnosis in these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10544228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Kim, S. Y., Shin, C. H., Lee, Y. A., Shin, C. H., Yang, S. W., Cho, T.-J., Ko, J. M. &lt;strong&gt;Clinical application of sequential epigenetic analysis for diagnosis of Silver-Russell syndrome.&lt;/strong&gt; Ann. Lab. Med. 41: 401-408, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33536359/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33536359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3343/alm.2021.41.4.401&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33536359">Kim et al. (2021)</a> used methylation-specific multiplex ligation-dependent probe amplification (MS-MPLA) analysis of chromosome 11p15 and bisulfite pyrosequencing (BP) of ICR1, ICR2, MEST (<a href="/entry/601029">601029</a>), and MEG3 (<a href="/entry/605636">605636</a>) for molecular diagnosis of patients with SRS. Twenty-eight patients were diagnosed with SRS based on modified Netchine-Harbison clinical scoring system (NH-CSS) criteria. Epigenetic defects were detected in 17 of the 28 patients: 11 patients had abnormal MS-MPLA findings, 14 patients had abnormal BP methylation analysis of ICR1 (11 of whom also had abnormal MS-MPLA findings), and 3 patients had abnormal BP methylation analysis of MEST. Six of the 7 patients who met 5 or more of the NH-CSS criteria were found to have methylation defects, 4 of the 8 patients with 4 NH-CSS criteria were found to have methylation defects, and 7 of the 13 patients with 3 NH-CSS criteria were found to have methylation defects. <a href="#25" class="mim-tip-reference" title="Kim, S. Y., Shin, C. H., Lee, Y. A., Shin, C. H., Yang, S. W., Cho, T.-J., Ko, J. M. &lt;strong&gt;Clinical application of sequential epigenetic analysis for diagnosis of Silver-Russell syndrome.&lt;/strong&gt; Ann. Lab. Med. 41: 401-408, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33536359/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33536359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3343/alm.2021.41.4.401&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33536359">Kim et al. (2021)</a> concluded that genetic analysis for SRS should be considered even in patients with a low NH-CSS score. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33536359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Cytogenetics</strong>
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<p><strong><em>Chromosome 11</em></strong></p><p>
<a href="#13" class="mim-tip-reference" title="Chiesa, N., De Crescenzo, A., Mishra, K., Perone, L., Carella, M., Palumbo, O., Mussa, A., Sparago, A., Cerrato, F., Russo, S., Lapi, E., Cubellis, M. V., Kanduri, C., Cirillo Silengo, M., Riccio, A., Ferrero, G. B. &lt;strong&gt;The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.&lt;/strong&gt; Hum. Molec. Genet. 21: 10-25, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21920939/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21920939&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21920939[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddr419&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21920939">Chiesa et al. (2012)</a> described 2 maternal 11p15.5 microduplications with contrasting phenotypes. In the first case, a 1.2-Mb inverted duplication of chromosome 11p15 derived from the maternal allele resulted in Silver-Russell syndrome. The duplication encompassed the entire 11p15.5 imprinted gene cluster, and hypermethylation of CpGs throughout the ICR2 region was observed. These findings were consistent with the maintenance of genomic imprinting, with a double dosage of maternal imprinting and resulting in a lack of KCNQ1OT1 (<a href="/entry/604115">604115</a>) transcription. In the second case, a maternally inherited 160-kb inverted duplication that included only ICR2 and the most 5-prime 20 kb of KCNQ1OT1 resulted in a BWS (<a href="/entry/130650">130650</a>) phenotype in 5 individuals in 2 generations. This duplication was associated with hypomethylation of ICR2 resulting from partial loss of the imprinted methylation of the maternal allele, expression of a truncated KCNQ1OT1 transcript, and silencing of CDKN1C (<a href="/entry/600856">600856</a>). Chromatin RNA immunopurification studies suggested that the KCNQ1OT1 RNA interacts with chromatin through its most 5-prime 20-kb sequence, providing a mechanism for the silencing activity of this noncoding RNA. The finding of similar duplications of ICR2 resulting in different methylation imprints suggested that the ICR2 sequence is not sufficient for establishing DNA methylation on the maternal chromosome, and that some other property, possibly orientation-dependent, is needed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21920939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Chromosome 17</em></strong></p><p>
<a href="#37" class="mim-tip-reference" title="Ramirez-Duenas, M. L., Medina, C., Ocampo-Campos, R., Rivera, H. &lt;strong&gt;Severe Silver-Russell syndrome and translocation (17;20)(q25;q13).&lt;/strong&gt; Clin. Genet. 41: 51-53, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1633648/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1633648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03630.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1633648">Ramirez-Duenas et al. (1992)</a> observed severe Russell-Silver syndrome in a girl with translocation t(17;20)(q25;q13). No evidence of imbalance was found. The father exhibited the same balanced translocation. <a href="#37" class="mim-tip-reference" title="Ramirez-Duenas, M. L., Medina, C., Ocampo-Campos, R., Rivera, H. &lt;strong&gt;Severe Silver-Russell syndrome and translocation (17;20)(q25;q13).&lt;/strong&gt; Clin. Genet. 41: 51-53, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1633648/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1633648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03630.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1633648">Ramirez-Duenas et al. (1992)</a> questioned whether the RSS locus is located on either chromosome 17 or 20 and whether the patient's phenotype resulted from either unmasking of heterozygosity or genomic imprinting via paternal disomy. <a href="#28" class="mim-tip-reference" title="Midro, A. T., Debek, K., Sawicka, A., Marcinkiewicz, D., Rogowska, M. &lt;strong&gt;Second observation of Silver-Russel (sic) syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. (Letter)&lt;/strong&gt; Clin. Genet. 44: 53-55, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8403458/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8403458&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1993.tb03845.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8403458">Midro et al. (1993)</a> found the identical chromosome 17 breakpoint (17q25) in an 8-year-old boy with a de novo t(1;17)(q31;q25) and Silver-Russell syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8403458+1633648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a child with RSS, <a href="#18" class="mim-tip-reference" title="Eggermann, T., Eggermann, K., Mergenthaler, S., Kuner, R., Kaiser, P., Ranke, M. B., Wollmann, H. A. &lt;strong&gt;Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.&lt;/strong&gt; J. Med. Genet. 35: 784-786, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9733042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9733042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.9.784&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9733042">Eggermann et al. (1998)</a> reported a heterozygous paternally inherited deletion of the gene encoding chorionic somatomammotropin hormone (CSH1; <a href="/entry/150200">150200</a>), which maps to 17q22-q24. The authors noted that deletions of CSH1 with no phenotypic consequences have been reported; however, a role for the heterozygous deletion in this case was considered possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Dorr, S., Midro, A. T., Farber, C., Giannakudis, J., Hansmann, I. &lt;strong&gt;Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.&lt;/strong&gt; Genomics 71: 174-184, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11161811/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11161811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.2000.6413&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11161811">Dorr et al. (2001)</a> prepared a physical and transcript map of the critical region for the RSS translocation breakpoint on 17q23-q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11161811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Chromosome 1</em></strong></p><p>
<a href="#48" class="mim-tip-reference" title="van Haelst, M. M., Eussen, H. J. F. M. M., Visscher, F., de Ruijter, J. L. M., Drop, S. L. S., Lindhout, D., Wouters, C. H., Govaerts, L. C. P. &lt;strong&gt;Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 39: 582-585, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12161598/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12161598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.8.582&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12161598">Van Haelst et al. (2002)</a> reported a patient with phenotypic features of Silver-Russell syndrome who had trisomy 1q32.1-q42.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12161598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Chromosome X</em></strong></p><p>
<a href="#26" class="mim-tip-reference" title="Li, C. C., Chodirker, B. N., Dawson, A. J., Chudley, A. E. &lt;strong&gt;Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?&lt;/strong&gt; Clin. Dysmorph. 13: 95-98, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15057125/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15057125&lt;/a&gt;]" pmid="15057125">Li et al. (2004)</a> reported a female infant with a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features consistent with Russell-Silver syndrome, including a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with downturned corner of the mouth, and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She also had a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of the Russell-Silver phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15057125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p><a href="#1" class="mim-tip-reference" title="Abu-Amero, S., Monk, D., Frost, J., Preece, M., Stanier, P., Moore, G. E. &lt;strong&gt;The genetic aetiology of Silver-Russell syndrome.&lt;/strong&gt; J. Med. Genet. 45: 193-199, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18156438/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18156438&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2007.053017&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18156438">Abu-Amero et al. (2008)</a> provided a review of the complex genetic etiology of Silver-Russell syndrome, which primarily involves chromosomes 7 and 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18156438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genes on Chromosome 11</em></strong></p><p>
Given the crucial role of the 11p15 imprinted region in the control of fetal growth, <a href="#23" class="mim-tip-reference" title="Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Barbu, V., Danton, F., Thibaud, N., Le Merrer, M., Burglen, L., Bertrand, A.-M., Netchine, I., Le Bouc, Y. &lt;strong&gt;Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.&lt;/strong&gt; Nature Genet. 37: 1003-1007, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16086014/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16086014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1629&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16086014">Gicquel et al. (2005)</a> hypothesized that dysregulation of genes at 11p15 might be involved in syndromic intrauterine growth retardation. In the telomeric imprinting center region ICR1 of the 11p15 region in several individuals with clinically typical Silver-Russell syndrome, they identified an epimutation (demethylation). The epigenetic defect was associated with, and probably responsible for, relaxation of imprinting and biallelic expression of H19 (<a href="/entry/103280">103280</a>) and downregulation of IGF2 (<a href="/entry/147470">147470</a>). These findings provided new insight into the pathogenesis of SRS and strongly suggested that the 11p15 imprinted region, in addition to the imprinted region of 7p13-p11.2 and 7q31-qter, is involved in SRS. The loss of paternal methylation in individuals with SRS may have resulted from a deficient acquisition of methylation during spermatogenesis or from a lack of maintenance of methylation after fertilization. The 5 individuals with SRS that carried the epimutation had only a partial loss of methylation, and 4 of them had body asymmetry. These data suggested that the loss of methylation occurred after fertilization and resulted in a mosaic distribution of the epimutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16086014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The epimutation described in individuals with SRS by <a href="#23" class="mim-tip-reference" title="Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Barbu, V., Danton, F., Thibaud, N., Le Merrer, M., Burglen, L., Bertrand, A.-M., Netchine, I., Le Bouc, Y. &lt;strong&gt;Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.&lt;/strong&gt; Nature Genet. 37: 1003-1007, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16086014/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16086014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1629&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16086014">Gicquel et al. (2005)</a> is the exact opposite of one of the molecular defects responsible for Beckwith-Wiedemann syndrome (BWS; <a href="/entry/130650">130650</a>): approximately 10% of individuals with BWS have hypermethylation of the H19 promoter. The most common epimutation in individuals with BWS involves the centromeric 11p15 subdomain and consists of loss of methylation of the maternal KCNQ1OT1 (<a href="/entry/604115">604115</a>) allele. Paternal inheritance of a null KCNQ1OT1 allele results in fetal growth retardation by 20 to 25% but does not affect expression of H19 or IGF2. One of the 5 individuals with the epimutation was a monozygotic twin, and her twin had no clinical features of SRS. Both twins had a loss of methylation in the telomeric 11p15 domain in their leukocyte DNA and biallelic expression of H19 in their blood cells. However, in skin fibroblasts, only the affected twin showed abnormal methylation. This observation was consistent with results obtained from BWS-discordant monozygotic twins and suggested that the presence of the epigenetic defect of blood cells of both twins results from shared fetal circulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16086014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor suppressor gene and the IGF2 growth factor. Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. <a href="#11" class="mim-tip-reference" title="Bliek, J., Terhal, P., van den Bogaard, M.-J., Maas, S., Hamel, B., Salieb-Beugelaar, G., Simon, M., Letteboer, T., van der Smagt, J., Kroes, H., Mannens, M. &lt;strong&gt;Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.&lt;/strong&gt; Am. J. Hum. Genet. 78: 604-614, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16532391/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16532391&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16532391[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/502981&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16532391">Bliek et al. (2006)</a> reported a series of patients with hypomethylation of the H19 locus. The main clinical features of asymmetry and growth retardation were the opposite of those seen in patients with hypermethylation of this region. In addition, they found that complete hypomethylation of the H19 promoter was associated in 2 of 3 patients with the full clinical spectrum of Silver-Russell syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Following up on the work of <a href="#23" class="mim-tip-reference" title="Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Barbu, V., Danton, F., Thibaud, N., Le Merrer, M., Burglen, L., Bertrand, A.-M., Netchine, I., Le Bouc, Y. &lt;strong&gt;Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.&lt;/strong&gt; Nature Genet. 37: 1003-1007, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16086014/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16086014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1629&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16086014">Gicquel et al. (2005)</a> on epigenetic mutations in the etiology of SRS, <a href="#19" class="mim-tip-reference" title="Eggermann, T., Schonherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M. B., Wollmann, H. A. &lt;strong&gt;Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. (Letter)&lt;/strong&gt; J. Med. Genet. 43: 615-616, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16236811/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16236811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.038687&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16236811">Eggermann et al. (2006)</a> screened a cohort of 51 SRS patients for epimutations in ICR1 (the telomeric imprinting center region of 11p15) and KCNQ1OT1 (<a href="/entry/604115">604115</a>) by methylation-sensitive Southern blot analyses. ICR1 demethylation was observed in 16 of the 51 SRS patients, corresponding to a frequency of approximately 31%. Changes in methylation at the KCNQ1OT1 locus were not detected. Combining these data with those on maternal duplications in 11p15, nearly 35% of SRS cases are associated with detectable (epi)genetic disturbances in 11p15. <a href="#19" class="mim-tip-reference" title="Eggermann, T., Schonherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M. B., Wollmann, H. A. &lt;strong&gt;Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. (Letter)&lt;/strong&gt; J. Med. Genet. 43: 615-616, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16236811/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16236811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.038687&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16236811">Eggermann et al. (2006)</a> suggested that a general involvement of 11p15 changes in growth-retarded patients with only minor or without further dysmorphic features must be considered. SRS and BWS may be regarded as 2 diseases caused by opposite (epi)genetic disturbances of the same chromosomal region displaying opposite clinical pictures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16086014+16236811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Schonherr, N., Meyer, E., Roos, A., Schmidt, A., Wollmann, H. A., Eggermann, T. &lt;strong&gt;The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.&lt;/strong&gt; J. Med. Genet. 44: 59-63, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16963484/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16963484&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16963484[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2006.044370&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16963484">Schonherr et al. (2007)</a> stated that methylation defects in the imprinted region of 11p15 can be detected in about 30% of patients with SRS. They reported the first patient with SRS with a cryptic duplication restricted to the centromeric imprinting center ICR2 in 11p15. The maternally inherited duplication in this patient included a region of 0.76 to 1.0 Mbp and affected the genes regulated by the ICR2, among them CDKN1C (<a href="/entry/600856">600856</a>) and LIT1 (<a href="/entry/604115">604115</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16963484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Netchine, I., Rossignol, S., Dufourg, M.-N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Demay, M.-C. R., Danton, F., and 10 others. &lt;strong&gt;11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.&lt;/strong&gt; J. Clin. Endocr. Metab. 92: 3148-3154, 2007. Note: Erratum: J. Clin. Endocr. Metab. 92: 4305 only, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17504900/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17504900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-0354&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17504900">Netchine et al. (2007)</a> screened for 11p15 epimutation and mUPD7 in SRS and non-SRS small-for-gestational-age (SGA) patients to identify epigenetic-phenotypic correlations. Of the 127 SGA patients studied, 58 were diagnosed with SRS; 37 of these (63.8%) displayed partial loss of methylation (LOM) of the 11p15 ICR1 domain, and 3 (5.2%) had mUPD7. No molecular abnormalities were found in the non-SRS SGA group. Birth weight, birth length, and postnatal body mass index (BMI) were lower in the abnormal 11p15 SRS group (ab-ICR1-SRS) than in the normal 11p15 SRS group (-3.4 vs -2.6 SD score (SDS), -4.4 vs -3.4 SDS, and -2.5 vs -1.6 SDS, respectively; p less than 0.05). Among SRS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. All ab-ICR1-SRS patients had at least 4 of 5 criteria of the scoring system. <a href="#30" class="mim-tip-reference" title="Netchine, I., Rossignol, S., Dufourg, M.-N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Demay, M.-C. R., Danton, F., and 10 others. &lt;strong&gt;11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.&lt;/strong&gt; J. Clin. Endocr. Metab. 92: 3148-3154, 2007. Note: Erratum: J. Clin. Endocr. Metab. 92: 4305 only, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17504900/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17504900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-0354&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17504900">Netchine et al. (2007)</a> concluded that the 11p15 ICR1 epimutation is a major, specific cause of SRS exhibiting failure to thrive. They proposed a clinical scoring system (including a BMI of less than -2 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of SRS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17504900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Bullman, H., Lever, M., Robinson, D. O., Mackay, D. J. G., Holder, S. E., Wakeling, E. L. &lt;strong&gt;Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 45: 396-399, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18474587/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18474587&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2007.057059&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18474587">Bullman et al. (2008)</a> reported a patient with SRS who had mosaic maternal uniparental disomy of chromosome 11 with abnormal methylation of ICR2. MLPA analysis showed 12 informative loci between chromosome 11p15.5 to 11q23.3. The isodisomy was the reciprocal of the mosaic paternal isodisomy seen in patients with BWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18474587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Azzi, S., Rossignol, S., Steunou, V., Sas, T., Thibaud, N., Danton, F., Le Jule, M., Heinrichs, C., Cabrol, S., Gicquel, C., Le Bouc, Y., Netchine, I. &lt;strong&gt;Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.&lt;/strong&gt; Hum. Molec. Genet. 18: 4724-4733, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19755383/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19755383&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp435&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19755383">Azzi et al. (2009)</a> studied the methylation status of 5 maternally and 2 paternally methylated loci in a series of 167 patients with 11p15-related fetal growth disorders. Seven of 74 (9.5%) Russell-Silver (RSS) patients and 16 of 68 (24%) Beckwith-Wiedemann (BWS; <a href="/entry/130650">130650</a>) patients showed multilocus loss of methylation (LOM) at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two-thirds of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found, suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, 4 patients displayed LOM at both ICR1 and ICR2 11p15; 3 of them had a RSS and 1 patient had a BWS phenotype. The authors concluded that multilocus LOM can also concern RSS patients, and that LOM can involve both paternally and maternally methylated loci in the same patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19755383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using PCR-based methylation analysis, <a href="#34" class="mim-tip-reference" title="Penaherrera, M. S., Weindler, S., Van Allen, M. I., Yong, S.-L., Metzger, D. L., McGillivray, B., Boerkoel, C., Langlois, S., Robinson, W. P. &lt;strong&gt;Methylation profiling in individuals with Russell-Silver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 347-355, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20082469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20082469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33204&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20082469">Penaherrera et al. (2010)</a> found that 13 (37%) of 35 blood samples from patients with SRS showed methylation levels at H19/IGF2 ICR1 that were more than 2 SD below the mean for controls. Clinically, SRS patients had a lower birth weight (at least 2 SD below the mean), relative macrocephaly, and a higher frequency of body asymmetry compared to SRS patients without these epigenetic changes. One patient had a mediastinal neuroblastoma. Controls had considerable variability in methylation (30 to 47%) at ICR1, which <a href="#34" class="mim-tip-reference" title="Penaherrera, M. S., Weindler, S., Van Allen, M. I., Yong, S.-L., Metzger, D. L., McGillivray, B., Boerkoel, C., Langlois, S., Robinson, W. P. &lt;strong&gt;Methylation profiling in individuals with Russell-Silver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 347-355, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20082469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20082469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33204&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20082469">Penaherrera et al. (2010)</a> noted can cause some ambiguity in establishing clear cutoffs for diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20082469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
Previous studies had shown that individuals with a deletion of 15q26.1-qter, which includes the insulin-like growth factor I receptor gene (IGF1R; <a href="/entry/147370">147370</a>), may exhibit some phenotypic characteristics resembling those of Russell-Silver syndrome. <a href="#2" class="mim-tip-reference" title="Abu-Amero, S., Price, S., Wakeling, E., Stanier, P., Trembath, R., Preece, M. A., Moore, G. E. &lt;strong&gt;Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.&lt;/strong&gt; Europ. J. Hum. Genet. 5: 235-241, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9359045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9359045&lt;/a&gt;]" pmid="9359045">Abu-Amero et al. (1997)</a> investigated 33 RSS probands, with normal karyotypes, and their parents for the presence of both copies of IGF1R by gene dosage analysis of Southern blot hybridization. All 33 probands had both copies of the gene. Two important functional regions of IGF1R were also investigated for DNA mutations using SSCP analysis; no mutations were found. The patients were from the series of cases studied by <a href="#35" class="mim-tip-reference" title="Preece, M. A., Price, S. M., Davies, V., Clough, L., Stanier, P., Trembath, R. C., Moore, G. E. &lt;strong&gt;Maternal uniparental disomy 7 in Silver-Russell syndrome.&lt;/strong&gt; J. Med. Genet. 34: 6-9, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9032641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9032641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.1.6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9032641">Preece et al. (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9032641+9359045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Penaherrera, M. S., Weindler, S., Van Allen, M. I., Yong, S.-L., Metzger, D. L., McGillivray, B., Boerkoel, C., Langlois, S., Robinson, W. P. &lt;strong&gt;Methylation profiling in individuals with Russell-Silver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 347-355, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20082469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20082469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33204&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20082469">Penaherrera et al. (2010)</a> found no changes in methylation of the KVDMR1 (see KCNQ1; <a href="/entry/607542">607542</a>), PLAGL1 (<a href="/entry/603044">603044</a>), or PEG10 (<a href="/entry/609810">609810</a>) genes in blood samples of 35 patients with SRS. Whole genome methylation analysis of a subset of 22 SRS patients, including 10 who had hypomethylation at ICR1, showed no global disruption in methylation in these patients compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20082469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Binder, G., Seidel, A.-K., Martin, D. D., Schweizer, R., Schwarze, C. P., Wollmann, H. A., Eggermann, T., Ranke, M. B. &lt;strong&gt;The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration.&lt;/strong&gt; J. Clin. Endocr. Metab. 93: 1402-1407, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18230663/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18230663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-1897&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18230663">Binder et al. (2008)</a> compared the genotype in 44 patients with SRS with the endocrine phenotype. Epimutations at 11p15 were found in 19 of the 44, UPD7 in 5, and small structural aberrations of the short arm of chromosome 11 in 2. Of the 44 cases, 18 were negative for any genetic defect known (41%). The most severe phenotype was found in children with 11p15 SRS. Children with UPD7 SRS had a significantly higher birth length than the 11p15 SRS subjects (P less than 0.004) but lost height SD score postpartum, whereas children with 11p15 SRS showed no change in height SD score. There was a trend toward more height gain in children with UPD7 than in those with 11p15 epimutation under GH therapy (+2.5 vs +1.9 height SD score after 3 years) (P = 0.08). <a href="#10" class="mim-tip-reference" title="Binder, G., Seidel, A.-K., Martin, D. D., Schweizer, R., Schwarze, C. P., Wollmann, H. A., Eggermann, T., Ranke, M. B. &lt;strong&gt;The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration.&lt;/strong&gt; J. Clin. Endocr. Metab. 93: 1402-1407, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18230663/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18230663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-1897&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18230663">Binder et al. (2008)</a> concluded that children with SRS and an 11p15 epimutation have IGFBP3 (<a href="/entry/146732">146732</a>) excess and show endocrine characteristics suggesting IGF1 (<a href="/entry/147440">147440</a>) insensitivity, whereas children with SRS and UPD7 were not different with respect to endocrine characteristics from nonsyndromic short children born SGA. This phenotype-genotype correlation implicated divergent endocrine mechanisms of growth failure in SRS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18230663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., Baumer, A. &lt;strong&gt;Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 192-197, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19066168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19066168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061820&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19066168">Bartholdi et al. (2009)</a> found that 106 (53%) of 201 patients with suspected SRS actually fulfilled clinical criteria for the disorder. Hypomethylation at the ICR1 on chromosome 11p15 was observed in 41 (38.5%) of the 106 patients. The majority of patients showed hypomethylation of both H19 and IGF2, but 10 showed selective hypomethylation of H19 and 2 showed selective hypomethylation of IGF2. However, the authors noted that the IGF2-specific probe showed a broader variation in controls as compared to the H19 probe. Seven (6.6%) of the 106 patients had uniparental disomy of chromosome 7. Patients carrying epimutations had higher disease scores than those with maternal uniparental disomy of chromosome 7 or those with no identified defects, indicating that hypomethylation at 11p15 was associated with a more severe phenotype, particularly body asymmetry. No genetic anomaly was detected in 54.7% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19066168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#45" class="mim-tip-reference" title="Tanner, J. M., Ham, T. J. &lt;strong&gt;Low birthweight dwarfism with asymmetry (Silver&#x27;s syndrome): treatment with human growth hormone.&lt;/strong&gt; Arch. Dis. Child. 44: 231-243, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5779433/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5779433&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.44.234.231&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5779433">Tanner and Ham (1969)</a> suggested that the designation 'Silver dwarf' be reserved for children of short stature and low birth weight who have asymmetry of arms, legs, body or head, and incurved fifth fingers. They suggested that the designation 'Russell dwarf' be reserved for the similar situation when asymmetry is lacking. <a href="#33" class="mim-tip-reference" title="Patton, M. A. &lt;strong&gt;Russell-Silver syndrome.&lt;/strong&gt; J. Med. Genet. 25: 557-560, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3050100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3050100&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.8.557&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3050100">Patton (1988)</a> noted that this distinction had not been generally accepted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3050100+5779433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Angehrn1979" class="mim-tip-reference" title="Angehrn, V., Zachmann, M., Prader, A. &lt;strong&gt;Silver-Russell syndrome: observations in 20 patients.&lt;/strong&gt; Helv. Paediat. Acta 34: 297-308, 1979.">Angehrn et al. (1979)</a>; <a href="#Moseley1966" class="mim-tip-reference" title="Moseley, J. E., Moloshok, R. E., Freiberger, R. H. &lt;strong&gt;The Silver syndrome: congenital asymmetry, short stature and variations in sexual development.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 74-81, 1966.">Moseley et al. (1966)</a>; <a href="#Robichaux1981" class="mim-tip-reference" title="Robichaux, V., Fraikor, A., Favara, B., Richer, M. &lt;strong&gt;Silver-Russell syndrome: a family with symmetric and asymmetric siblings.&lt;/strong&gt; Arch. Path. Lab. Med. 105: 157-159, 1981.">Robichaux et al.
(1981)</a>; <a href="#Silver1964" class="mim-tip-reference" title="Silver, H. K. &lt;strong&gt;Asymmetry, short stature, and variations in sexual development: a syndrome of congenital malformations.&lt;/strong&gt; Am. J. Dis. Child. 107: 495-515, 1964.">Silver (1964)</a>; <a href="#Weiss1981" class="mim-tip-reference" title="Weiss, G. R., Garnick, M. B. &lt;strong&gt;Testicular cancer in a Russell-Silver dwarf.&lt;/strong&gt; J. Urol. 126: 836-837, 1981.">Weiss and Garnick (1981)</a>
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<a id="Abu-Amero2008" class="mim-anchor"></a>
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Abu-Amero, S., Monk, D., Frost, J., Preece, M., Stanier, P., Moore, G. E.
<strong>The genetic aetiology of Silver-Russell syndrome.</strong>
J. Med. Genet. 45: 193-199, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18156438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18156438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18156438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2007.053017" target="_blank">Full Text</a>]
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<a id="Abu-Amero1997" class="mim-anchor"></a>
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Abu-Amero, S., Price, S., Wakeling, E., Stanier, P., Trembath, R., Preece, M. A., Moore, G. E.
<strong>Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.</strong>
Europ. J. Hum. Genet. 5: 235-241, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9359045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9359045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9359045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Al-Fifi1996" class="mim-anchor"></a>
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Al-Fifi, S., Teebi, A. S., Shevell, M.
<strong>Autosomal dominant Russell-Silver syndrome. (Letter)</strong>
Am. J. Med. Genet. 61: 96-97, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8741931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320610108" target="_blank">Full Text</a>]
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<a id="Anderson2002" class="mim-anchor"></a>
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Anderson, J., Viskochil, D., O'Gorman, M., Gonzales, C.
<strong>Gastrointestinal complications of Russell-Silver syndrome: a pilot study.</strong>
Am. J. Med. Genet. 113: 15-19, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12400060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12400060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12400060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.10667" target="_blank">Full Text</a>]
</p>
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<a id="Andersson Gronlund2011" class="mim-anchor"></a>
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<p class="mim-text-font">
Andersson Gronlund, M., Dahlgren, J., Aring, E., Kraemer, M., Hellstrom, A.
<strong>Ophthalmological findings in children and adolescents with Silver-Russell syndrome.</strong>
Brit. J. Ophthal. 95: 637-641, 2011.
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[<a href="https://doi.org/10.1136/bjo.2010.184457" target="_blank">Full Text</a>]
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<a id="Angehrn1979" class="mim-anchor"></a>
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Angehrn, V., Zachmann, M., Prader, A.
<strong>Silver-Russell syndrome: observations in 20 patients.</strong>
Helv. Paediat. Acta 34: 297-308, 1979.
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<a id="Azzi2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Azzi, S., Rossignol, S., Steunou, V., Sas, T., Thibaud, N., Danton, F., Le Jule, M., Heinrichs, C., Cabrol, S., Gicquel, C., Le Bouc, Y., Netchine, I.
<strong>Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.</strong>
Hum. Molec. Genet. 18: 4724-4733, 2009.
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[<a href="https://doi.org/10.1093/hmg/ddp435" target="_blank">Full Text</a>]
</p>
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<div class="">
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Bailey, W., Popovich, B., Jones, K. L.
<strong>Monozygotic twins discordant for the Russell-Silver syndrome.</strong>
Am. J. Med. Genet. 58: 101-105, 1995.
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[<a href="https://doi.org/10.1002/ajmg.1320580202" target="_blank">Full Text</a>]
</p>
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<a id="Bartholdi2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., Baumer, A.
<strong>Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (Letter)</strong>
J. Med. Genet. 46: 192-197, 2009.
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[<a href="https://doi.org/10.1136/jmg.2008.061820" target="_blank">Full Text</a>]
</p>
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<a id="Binder2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Binder, G., Seidel, A.-K., Martin, D. D., Schweizer, R., Schwarze, C. P., Wollmann, H. A., Eggermann, T., Ranke, M. B.
<strong>The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration.</strong>
J. Clin. Endocr. Metab. 93: 1402-1407, 2008.
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[<a href="https://doi.org/10.1210/jc.2007-1897" target="_blank">Full Text</a>]
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<a id="Bliek2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bliek, J., Terhal, P., van den Bogaard, M.-J., Maas, S., Hamel, B., Salieb-Beugelaar, G., Simon, M., Letteboer, T., van der Smagt, J., Kroes, H., Mannens, M.
<strong>Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.</strong>
Am. J. Hum. Genet. 78: 604-614, 2006.
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[<a href="https://doi.org/10.1086/502981" target="_blank">Full Text</a>]
</p>
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<a id="Bullman2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bullman, H., Lever, M., Robinson, D. O., Mackay, D. J. G., Holder, S. E., Wakeling, E. L.
<strong>Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. (Letter)</strong>
J. Med. Genet. 45: 396-399, 2008.
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[<a href="https://doi.org/10.1136/jmg.2007.057059" target="_blank">Full Text</a>]
</p>
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<a id="Chiesa2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chiesa, N., De Crescenzo, A., Mishra, K., Perone, L., Carella, M., Palumbo, O., Mussa, A., Sparago, A., Cerrato, F., Russo, S., Lapi, E., Cubellis, M. V., Kanduri, C., Cirillo Silengo, M., Riccio, A., Ferrero, G. B.
<strong>The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.</strong>
Hum. Molec. Genet. 21: 10-25, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21920939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21920939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21920939[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21920939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddr419" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Chitayat1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chitayat, D., Friedman, J. M., Anderson, L., Dimmick, J. E.
<strong>Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.</strong>
Am. J. Med. Genet. 31: 909-914, 1988.
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[<a href="https://doi.org/10.1002/ajmg.1320310425" target="_blank">Full Text</a>]
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Donnai, D., Thompson, E., Allanson, J., Baraitser, M.
<strong>Severe Silver-Russell syndrome.</strong>
J. Med. Genet. 26: 447-451, 1989.
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[<a href="https://doi.org/10.1136/jmg.26.7.447" target="_blank">Full Text</a>]
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<a id="Dorr2001" class="mim-anchor"></a>
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Dorr, S., Midro, A. T., Farber, C., Giannakudis, J., Hansmann, I.
<strong>Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.</strong>
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[<a href="https://doi.org/10.1006/geno.2000.6413" target="_blank">Full Text</a>]
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<a id="Duncan1990" class="mim-anchor"></a>
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Duncan, P. A., Hall, J. G., Shapiro, L. R., Vibert, B. K.
<strong>Three-generation dominant transmission of the Silver-Russell syndrome.</strong>
Am. J. Med. Genet. 35: 245-250, 1990.
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[<a href="https://doi.org/10.1002/ajmg.1320350220" target="_blank">Full Text</a>]
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<a id="Eggermann1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Eggermann, T., Eggermann, K., Mergenthaler, S., Kuner, R., Kaiser, P., Ranke, M. B., Wollmann, H. A.
<strong>Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.</strong>
J. Med. Genet. 35: 784-786, 1998.
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[<a href="https://doi.org/10.1136/jmg.35.9.784" target="_blank">Full Text</a>]
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<a id="Eggermann2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Eggermann, T., Schonherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M. B., Wollmann, H. A.
<strong>Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. (Letter)</strong>
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[<a href="https://doi.org/10.1136/jmg.2005.038687" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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Escobar, V., Gleiser, S., Weaver, D. D.
<strong>Phenotypic and genetic analysis of the Silver-Russell syndrome.</strong>
Clin. Genet. 13: 278-288, 1978.
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[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01182.x" target="_blank">Full Text</a>]
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<a id="Fuleihan1971" class="mim-anchor"></a>
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Fuleihan, D. S., Der Kaloustian, V. M., Najjar, S. S.
<strong>The Russell-Silver syndrome: report of three siblings.</strong>
J. Pediat. 78: 654-657, 1971.
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[<a href="https://doi.org/10.1016/s0022-3476(71)80469-9" target="_blank">Full Text</a>]
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<a id="Gareis1971" class="mim-anchor"></a>
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Gareis, F. J., Smith, D. W., Summitt, R. L.
<strong>The Russell-Silver syndrome without asymmetry.</strong>
J. Pediat. 79: 775-781, 1971.
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[<a href="https://doi.org/10.1016/s0022-3476(71)80390-6" target="_blank">Full Text</a>]
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<a id="Gicquel2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Barbu, V., Danton, F., Thibaud, N., Le Merrer, M., Burglen, L., Bertrand, A.-M., Netchine, I., Le Bouc, Y.
<strong>Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.</strong>
Nature Genet. 37: 1003-1007, 2005.
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[<a href="https://doi.org/10.1038/ng1629" target="_blank">Full Text</a>]
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<a id="Herman1987" class="mim-anchor"></a>
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Herman, T. E., Crawford, J. D., Cleveland, R. H., Kushner, D. C.
<strong>Hand radiographs in Russell-Silver syndrome.</strong>
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<a id="Kim2021" class="mim-anchor"></a>
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<p class="mim-text-font">
Kim, S. Y., Shin, C. H., Lee, Y. A., Shin, C. H., Yang, S. W., Cho, T.-J., Ko, J. M.
<strong>Clinical application of sequential epigenetic analysis for diagnosis of Silver-Russell syndrome.</strong>
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[<a href="https://doi.org/10.3343/alm.2021.41.4.401" target="_blank">Full Text</a>]
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<a id="Li2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Li, C. C., Chodirker, B. N., Dawson, A. J., Chudley, A. E.
<strong>Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?</strong>
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<a id="Lokulo-Sodipe2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lokulo-Sodipe, O., Ballard, L., Child, J., Inskip, H. M., Byrne, C. D., Ishida, M., Moore, G. E., Wakeling, E. L., Fenwick, A., Mackay, D. J. G., Davies, J. H., Temple, I. K.
<strong>Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.</strong>
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[<a href="https://doi.org/10.1136/jmedgenet-2019-106561" target="_blank">Full Text</a>]
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Midro, A. T., Debek, K., Sawicka, A., Marcinkiewicz, D., Rogowska, M.
<strong>Second observation of Silver-Russel (sic) syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. (Letter)</strong>
Clin. Genet. 44: 53-55, 1993.
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[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03845.x" target="_blank">Full Text</a>]
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Moseley, J. E., Moloshok, R. E., Freiberger, R. H.
<strong>The Silver syndrome: congenital asymmetry, short stature and variations in sexual development.</strong>
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[<a href="https://doi.org/10.2214/ajr.97.1.74" target="_blank">Full Text</a>]
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Netchine, I., Rossignol, S., Dufourg, M.-N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Demay, M.-C. R., Danton, F., and 10 others.
<strong>11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.</strong>
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[<a href="https://doi.org/10.1210/jc.2007-0354" target="_blank">Full Text</a>]
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Nyhan, W. L., Sakati, N. O.
<strong>Silver syndrome: Silver-Russell syndrome, Russell-Silver syndrome. In: Genetic and Malformation Syndromes in Clinical Medicine.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.30379" target="_blank">Full Text</a>]
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<strong>Russell-Silver syndrome.</strong>
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[<a href="https://doi.org/10.1136/jmg.25.8.557" target="_blank">Full Text</a>]
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<a id="Penaherrera2010" class="mim-anchor"></a>
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Penaherrera, M. S., Weindler, S., Van Allen, M. I., Yong, S.-L., Metzger, D. L., McGillivray, B., Boerkoel, C., Langlois, S., Robinson, W. P.
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[<a href="https://doi.org/10.1002/ajmg.a.33204" target="_blank">Full Text</a>]
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<a id="Preece1997" class="mim-anchor"></a>
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<p class="mim-text-font">
Preece, M. A., Price, S. M., Davies, V., Clough, L., Stanier, P., Trembath, R. C., Moore, G. E.
<strong>Maternal uniparental disomy 7 in Silver-Russell syndrome.</strong>
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[<a href="https://doi.org/10.1136/jmg.34.1.6" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Price1999" class="mim-anchor"></a>
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<p class="mim-text-font">
Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C.
<strong>The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.</strong>
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</p>
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<a id="37" class="mim-anchor"></a>
<a id="Ramirez-Duenas1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Ramirez-Duenas, M. L., Medina, C., Ocampo-Campos, R., Rivera, H.
<strong>Severe Silver-Russell syndrome and translocation (17;20)(q25;q13).</strong>
Clin. Genet. 41: 51-53, 1992.
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[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03630.x" target="_blank">Full Text</a>]
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Rimoin, D. L.
<strong>The Silver syndrome in twins.</strong>
Birth Defects Orig. Art. Ser. V(2): 183-187, 1969.
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<a id="Robichaux1981" class="mim-anchor"></a>
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Robichaux, V., Fraikor, A., Favara, B., Richer, M.
<strong>Silver-Russell syndrome: a family with symmetric and asymmetric siblings.</strong>
Arch. Path. Lab. Med. 105: 157-159, 1981.
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</p>
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<a id="40" class="mim-anchor"></a>
<a id="Russell1954" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Russell, A.
<strong>A syndrome of intra-uterine-dwarfism recognizable at birth with cranio-facial dysostosis, disproportionate short arms, and other anomalies (5 examples).</strong>
Proc. Roy. Soc. Med. 47: 1040-1044, 1954.
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</p>
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<li>
<a id="41" class="mim-anchor"></a>
<a id="Samn1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Samn, M., Lewis, K., Blumberg, B.
<strong>Monozygotic twins discordant for the Russell-Silver syndrome.</strong>
Am. J. Med. Genet. 37: 543-545, 1990.
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[<a href="https://doi.org/10.1002/ajmg.1320370424" target="_blank">Full Text</a>]
</p>
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<a id="42" class="mim-anchor"></a>
<a id="Schonherr2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schonherr, N., Meyer, E., Roos, A., Schmidt, A., Wollmann, H. A., Eggermann, T.
<strong>The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.</strong>
J. Med. Genet. 44: 59-63, 2007.
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[<a href="https://doi.org/10.1136/jmg.2006.044370" target="_blank">Full Text</a>]
</p>
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<li>
<a id="43" class="mim-anchor"></a>
<a id="Silver1953" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silver, H. K., Kiyasu, W., George, J., Deamer, W. C.
<strong>Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.</strong>
Pediatrics 12: 368-376, 1953.
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</p>
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<a id="44" class="mim-anchor"></a>
<a id="Silver1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silver, H. K.
<strong>Asymmetry, short stature, and variations in sexual development: a syndrome of congenital malformations.</strong>
Am. J. Dis. Child. 107: 495-515, 1964.
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[<a href="https://doi.org/10.1001/archpedi.1964.02080060497011" target="_blank">Full Text</a>]
</p>
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<a id="45" class="mim-anchor"></a>
<a id="Tanner1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tanner, J. M., Ham, T. J.
<strong>Low birthweight dwarfism with asymmetry (Silver's syndrome): treatment with human growth hormone.</strong>
Arch. Dis. Child. 44: 231-243, 1969.
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[<a href="https://doi.org/10.1136/adc.44.234.231" target="_blank">Full Text</a>]
</p>
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<a id="46" class="mim-anchor"></a>
<a id="Tanner1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tanner, J. M., Lejarraga, H., Cameron, N.
<strong>The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases.</strong>
Pediat. Res. 9: 611-623, 1975.
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[<a href="https://doi.org/10.1203/00006450-197508000-00001" target="_blank">Full Text</a>]
</p>
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<a id="47" class="mim-anchor"></a>
<a id="Teebi1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Teebi, A. S.
<strong>Autosomal recessive Silver-Russell syndrome.</strong>
Clin. Dysmorph. 1: 151-156, 1992.
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</p>
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<li>
<a id="48" class="mim-anchor"></a>
<a id="van Haelst2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van Haelst, M. M., Eussen, H. J. F. M. M., Visscher, F., de Ruijter, J. L. M., Drop, S. L. S., Lindhout, D., Wouters, C. H., Govaerts, L. C. P.
<strong>Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome. (Letter)</strong>
J. Med. Genet. 39: 582-585, 2002.
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[<a href="https://doi.org/10.1136/jmg.39.8.582" target="_blank">Full Text</a>]
</p>
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<li>
<a id="49" class="mim-anchor"></a>
<a id="Weiss1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Weiss, G. R., Garnick, M. B.
<strong>Testicular cancer in a Russell-Silver dwarf.</strong>
J. Urol. 126: 836-837, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6119370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6119370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6119370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-5347(17)54773-4" target="_blank">Full Text</a>]
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Matthew B. Gross - updated : 1/15/2015<br>Cassandra L. Kniffin - updated : 12/11/2014<br>Jane Kelly - updated : 8/15/2011<br>Cassandra L. Kniffin - updated : 7/7/2011<br>George E. Tiller - updated : 11/1/2010<br>Cassandra L. Kniffin - updated : 6/1/2009<br>Cassandra L. Kniffin - updated : 3/23/2009<br>John A. Phillips, III - updated : 2/26/2009<br>Cassandra L. Kniffin - updated : 10/2/2008<br>Cassandra L. Kniffin - updated : 8/15/2008<br>John A. Phillips, III - updated : 3/24/2008<br>Victor A. McKusick - updated : 2/21/2007<br>Victor A. McKusick - updated : 10/10/2006<br>Victor A. McKusick - updated : 9/13/2006<br>Victor A. McKusick - updated : 3/15/2006<br>Victor A. McKusick - updated : 9/27/2005<br>Patricia A. Hartz - updated : 2/3/2005<br>Victor A. McKusick - updated : 1/3/2005<br>Siobhan M. Dolan - updated : 7/29/2004<br>Cassandra L. Kniffin - reorganized : 11/17/2003<br>Deborah L. Stone - updated : 2/12/2003<br>Victor A. McKusick - updated : 11/19/2002<br>Victor A. McKusick - updated : 11/7/2002<br>Michael J. Wright - updated : 7/1/2002<br>Victor A. McKusick - updated : 1/4/2002<br>Victor A. McKusick - updated : 10/19/2001<br>Michael B. Petersen - updated : 8/16/2001<br>Victor A. McKusick - updated : 1/24/2001<br>Michael J. Wright - updated : 1/9/2001<br>Victor A. McKusick - updated : 10/5/2000<br>Michael J. Wright - updated : 2/7/2000<br>Victor A. McKusick - updated : 12/29/1999<br>Victor A. McKusick - updated : 10/19/1999<br>Victor A. McKusick - updated : 11/30/1998<br>Michael J. Wright - updated : 10/7/1998<br>Victor A. McKusick - updated : 3/13/1998<br>Victor A. McKusick - updated : 11/7/1997<br>Victor A. McKusick - updated : 4/1/1997
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Creation Date:
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Victor A. McKusick : 5/16/1994
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carol : 03/04/2022
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carol : 03/03/2022<br>carol : 11/04/2020<br>alopez : 07/13/2020<br>alopez : 06/12/2020<br>carol : 10/14/2016<br>mcolton : 03/04/2015<br>mgross : 1/15/2015<br>alopez : 12/12/2014<br>mcolton : 12/12/2014<br>ckniffin : 12/11/2014<br>terry : 4/4/2013<br>terry : 12/5/2012<br>carol : 8/23/2011<br>terry : 8/15/2011<br>wwang : 7/14/2011<br>ckniffin : 7/7/2011<br>alopez : 11/2/2010<br>terry : 11/1/2010<br>terry : 12/17/2009<br>wwang : 6/10/2009<br>ckniffin : 6/1/2009<br>wwang : 4/7/2009<br>ckniffin : 3/23/2009<br>alopez : 2/26/2009<br>wwang : 10/10/2008<br>ckniffin : 10/2/2008<br>wwang : 8/19/2008<br>wwang : 8/19/2008<br>ckniffin : 8/15/2008<br>carol : 3/24/2008<br>alopez : 2/26/2007<br>terry : 2/21/2007<br>alopez : 10/11/2006<br>terry : 10/10/2006<br>alopez : 9/18/2006<br>terry : 9/13/2006<br>alopez : 3/21/2006<br>terry : 3/15/2006<br>alopez : 9/28/2005<br>terry : 9/27/2005<br>joanna : 6/13/2005<br>mgross : 2/3/2005<br>tkritzer : 1/13/2005<br>terry : 1/3/2005<br>carol : 9/2/2004<br>carol : 7/29/2004<br>terry : 7/29/2004<br>mgross : 3/17/2004<br>carol : 11/17/2003<br>ckniffin : 11/5/2003<br>terry : 5/16/2003<br>carol : 2/12/2003<br>alopez : 11/25/2002<br>tkritzer : 11/22/2002<br>tkritzer : 11/19/2002<br>tkritzer : 11/19/2002<br>tkritzer : 11/13/2002<br>terry : 11/7/2002<br>alopez : 7/3/2002<br>terry : 7/1/2002<br>carol : 1/4/2002<br>terry : 1/4/2002<br>carol : 11/12/2001<br>carol : 11/12/2001<br>mgross : 10/19/2001<br>terry : 10/19/2001<br>carol : 8/16/2001<br>carol : 1/25/2001<br>terry : 1/24/2001<br>alopez : 1/10/2001<br>alopez : 1/9/2001<br>terry : 10/5/2000<br>carol : 10/5/2000<br>terry : 2/10/2000<br>alopez : 2/7/2000<br>alopez : 2/7/2000<br>mgross : 1/3/2000<br>terry : 12/29/1999<br>carol : 10/19/1999<br>carol : 6/21/1999<br>carol : 11/30/1998<br>carol : 10/12/1998<br>terry : 10/7/1998<br>terry : 5/29/1998<br>psherman : 3/13/1998<br>terry : 3/6/1998<br>jenny : 11/7/1997<br>alopez : 11/5/1997<br>dholmes : 10/22/1997<br>terry : 4/1/1997<br>terry : 3/20/1997<br>mark : 2/17/1996<br>terry : 2/14/1996<br>mark : 9/13/1995<br>carol : 5/16/1994
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<strong>#</strong> 180860
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SILVER-RUSSELL SYNDROME 1; SRS1
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<em>Alternative titles; symbols</em>
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RUSSELL-SILVER SYNDROME; RSS<br />
SILVER-RUSSELL DWARFISM
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<strong>SNOMEDCT:</strong> 15069006; &nbsp;
<strong>ICD10CM:</strong> Q87.19; &nbsp;
<strong>ORPHA:</strong> 813; &nbsp;
<strong>DO:</strong> 14681; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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11p15.5
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Silver-Russell syndrome 1
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180860
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Autosomal dominant
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3
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ICR1
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616186
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because 20 to 60% of cases of Silver-Russell syndrome (SRS) are caused by the epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1; 616186) on chromosome 11p15.5. ICR1 regulates the imprinted expression of H19 (103280) and IGF2 (147470).</p>
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<strong>Description</strong>
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<p>Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009). </p><p><strong><em>Genetic Heterogeneity of Silver-Russell Syndrome</em></strong></p><p>
SRS2 (618905) is caused by maternal uniparental disomy of chromosome 7. SRS3 (616489) is caused by mutation in the IGF2 gene (147470) on chromosome 11p15. SRS4 (618907) is caused by mutation in the PLAG1 gene (603026) on chromosome 8q12. SRS5 (618908) is caused by mutation in the HMGA2 gene (600698) on chromosome 12q14.</p>
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<strong>Clinical Features</strong>
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<p>Silver-Russell syndrome (SRS) was reported independently by Silver et al. (1953) and Russell (1954). Silver et al. (1953) described 2 unrelated children with congenital hemihypertrophy, low birth weight, short stature, and elevated urinary gonadotropins. Russell (1954) described 5 unrelated children with intrauterine growth retardation and characteristic facial features, including triangular shaped face with a broad forehead and pointed, small chin with a wide, thin mouth. Two children had body asymmetry. Although each of these authors emphasized different phenotypic features, the whole picture was later identified as the 'Russell-Silver syndrome' (Patton, 1988). </p><p>Chitayat et al. (1988) described hepatocellular carcinoma in a 4-year-old boy with Russell-Silver syndrome. His brother had low birth weight and bilateral clinodactyly of the fifth fingers and grew slowly. Neither brother showed asymmetry. Donnai et al. (1989) described unusually severe Silver-Russell syndrome in 3 children with pre- and postnatal growth deficiency. </p><p>Price et al. (1999) reevaluated 57 patients in whom the diagnosis of SRS had been considered definite or likely. In 50 patients the clinical findings complied with a very broad definition of SRS. Notable additional findings included generalized camptodactyly in 11 individuals, many with distal arthrogryposis. Thirteen of the 25 males studied required genital surgery for conditions including hypospadias and inguinal hernia. Severe feeding problems were reported by 56% of parents, and sweating and pallor were described by 52% of parents in the early weeks of life. Fourteen of the 38 individuals of school age had been considered for special education; 4 attended special school. Molecular analysis in 42 subjects identified uniparental disomy (UPD) of chromosome 7 in 4 subjects. The phenotype in these 4 cases was generally milder than that in the non-UPD cases, with only 2 having the classic facial dysmorphism. </p><p>Anderson et al. (2002) conducted a study of gastrointestinal complications of SRS by questionnaire distributed by MAGIC, a support group for individuals with SRS. One-hundred thirty-five completed surveys were returned, of which 65 related to children with clear-cut SRS. Of these, 50 (77%) had gastrointestinal symptoms: gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). </p><p>Andersson Gronlund et al. (2011) identified ophthalmologic abnormalities in 17 of 18 children with Silver-Russell syndrome. Best corrected visual acuity of the better eye was less than 0.1 log of the minimal angle of resolution (less than 20/200; legal blindness) in 11 children, and 11 children had refractive errors. Anisometropia (greater than 1 diopter) was noted in 3 children. Subnormal stereo acuity and near point of convergence were found in 2 of 16 children. The total axial length in both eyes was shorter compared with that of controls. Of 16 children, 3 had small optic discs, 3 had large cup:disc ratio, and 4 had increased tortuosity of retinal vessels. Andersson Gronlund et al. (2011) recommended ophthalmologic examination for children with SRS. </p><p>Lokulo-Sodipe et al. (2020) described the clinical features of RSS in a cohort of 33 patients aged 13 years and older (median age, 29.6 years). Most of the patients (60.6%) had height below 2 standard deviations (median, -2.67) despite 70% having received growth hormone treatment. Characteristic childhood dysmorphisms seen in RSS, including triangular face, broad nasal tip, broad nasal bridge, retrognathia, and downslanting palpebral fissures, were seen in only a minority of patients. Features seen more commonly in this cohort included a broad forehead and facial dysmorphism (45%), relative macrocephaly (57.6%), low-set ears (57.6%), and posteriorly rotated ears (54.5%). Feeding issues were not commonly reported, although 18.2% had gastroesophageal reflux. In patients aged 18 years and older, 25% had impaired glucose tolerance, 33% had hypertension, and 52% had hypercholesterolemia. University degrees were completed in 40% of patients aged 21 years and older, which was consistent with educational achievement in the general UK population. There was not a significant correlation between quality of life assessment scores and height, although there was a negative correlation with BMI. Among the 25 patients aged 18 years or older, 9 had children, none of whom had RSS. Lokulo-Sodipe et al. (2020) concluded that the diagnosis of RSS in adults is difficult and requires molecular confirmation because many of the typical characteristics of RSS in childhood are not present in adulthood. </p>
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<strong>Inheritance</strong>
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<p>Rimoin (1969) described monozygotic male twins concordant for Silver dwarfism. However, Nyhan and Sakati (1976) and Samn et al. (1990) described monozygotic twins discordant for RSS. Bailey et al. (1995) described triplets, one of whom had RSS. The evidence was strong that he and his triplet brother were monozygotic; the brother was unaffected. The clinical characteristics consistent with RSS were a birth weight of less than 3 SD below the mean for gestational age and lower than either of his same-gestation sibs. The affected child had a small head circumference and a short birth length. </p><p>Fuleihan et al. (1971) observed 3 affected sibs among the 6 offspring of consanguineous Lebanese parents. Craniofacial disproportion and other minor anomalies were present. The mother was very short. Another possible familial occurrence was observed by Silver (cited by Gareis et al., 1971), who found that the mother of one of his cases was only 59 inches tall and had triangular facies and incurved fifth fingers. Tanner et al. (1975) reported on a longitudinal study of 39 cases. None of 61 sibs was affected. The authors found no distinction between Silver and Russell syndromes. Escobar et al. (1978) reported affected half brother and sister and reviewed reported familial cases. </p><p>Duncan et al. (1990) reported 7 affected persons in two 3-generation families. Three members of each family had an undergrowth of the left side of the body when compared with the normal right side. The authors noted that the clinical features were milder than those reported in sporadic cases. Duncan et al. (1990) found that in 17 reported families, multiple maternal relatives had complete or partial expression of Silver-Russell syndrome. Of 197 probands analyzed, 19% had one or more affected relatives. Two families with affected twins were consistent with new dominant mutation; possible autosomal recessive inheritance was found in 4 families. Because no male-to-male transmission was documented in 21 families in the literature or in the 2 families reported by Duncan et al. (1990), they suggested that X-linked dominant inheritance is a possibility. </p><p>Al-Fifi et al. (1996) reported 2 families with apparent autosomal dominant transmission of RSS. In 1 family, the mother (height 140 cm) and a son and daughter of hers were affected. The mother's father was remarkably short and thin until his late teens, but was later of normal height (25th centile) with triangular face, mild asymmetry, and prominent ears. In the second family, the mother's height and weight were below the third percentile for age before puberty. After puberty, her height reached the 25th percentile but she remained thin. A son and daughter were thought to be affected. </p><p>Ounap et al. (2004) described 2 sisters who met the criteria for SRS proposed by Price et al. (1999). The parents had normal facial features, normal height, and normal postnatal growth. Ounap et al. (2004) stated that this was the second well-documented case of familial recurrence of SRS suggesting autosomal recessive inheritance, the other being that of 6 sibs (5 males and 1 female) of normal first-cousin Arab parents (Teebi, 1992). In the family reported by Ounap et al. (2004), Bartholdi et al. (2009) identified hypomethylation at chromosome 11p15. Bartholdi et al. (2009) also reported another family in which 2 sibs had SRS associated with hypomethylation at 11p15. The authors postulated germ cell mosaicism of an incorrect methylation mark at the ICR1 during spermatogenesis in the fathers. </p><p>Bartholdi et al. (2009) reported a father and daughter with SRS who both had partial hypomethylation at chromosome 11p15, suggesting vertical transmission. Although the mechanism was difficult to explain, the authors postulated that the missing methylation mark in the father was not reset or corrected (setting of a methylation mark) during spermatogenesis. The findings had implications for genetic counseling. </p>
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<strong>Diagnosis</strong>
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<p>On the basis of radiographs of 15 patients, Herman et al. (1987) concluded that no single finding is pathognomonic; however, between the ages of 2 and 10 years, delayed maturation, clinodactyly, fifth middle or distal phalangeal hypoplasia, ivory epiphyses, and a second metacarpal pseudoepiphysis are suggestive. </p><p>Price et al. (1999) proposed diagnostic criteria for SRS: (1) birth weight below or equal to -2 SD from the mean; (2) poor postnatal growth below or equal to -2 SD from the mean at diagnosis; (3) preservation of occipitofrontal head circumference (OFC); (4) classic facial phenotype; and (5) asymmetry. Price et al. (1999) noted that some cases associated with uniparental disomy (UDP) (see below) might remain undiagnosed if strict criteria are applied, and suggested that the presence of feeding difficulties may be particularly helpful in making a diagnosis in these cases. </p><p>Kim et al. (2021) used methylation-specific multiplex ligation-dependent probe amplification (MS-MPLA) analysis of chromosome 11p15 and bisulfite pyrosequencing (BP) of ICR1, ICR2, MEST (601029), and MEG3 (605636) for molecular diagnosis of patients with SRS. Twenty-eight patients were diagnosed with SRS based on modified Netchine-Harbison clinical scoring system (NH-CSS) criteria. Epigenetic defects were detected in 17 of the 28 patients: 11 patients had abnormal MS-MPLA findings, 14 patients had abnormal BP methylation analysis of ICR1 (11 of whom also had abnormal MS-MPLA findings), and 3 patients had abnormal BP methylation analysis of MEST. Six of the 7 patients who met 5 or more of the NH-CSS criteria were found to have methylation defects, 4 of the 8 patients with 4 NH-CSS criteria were found to have methylation defects, and 7 of the 13 patients with 3 NH-CSS criteria were found to have methylation defects. Kim et al. (2021) concluded that genetic analysis for SRS should be considered even in patients with a low NH-CSS score. </p>
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<strong>Cytogenetics</strong>
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<p><strong><em>Chromosome 11</em></strong></p><p>
Chiesa et al. (2012) described 2 maternal 11p15.5 microduplications with contrasting phenotypes. In the first case, a 1.2-Mb inverted duplication of chromosome 11p15 derived from the maternal allele resulted in Silver-Russell syndrome. The duplication encompassed the entire 11p15.5 imprinted gene cluster, and hypermethylation of CpGs throughout the ICR2 region was observed. These findings were consistent with the maintenance of genomic imprinting, with a double dosage of maternal imprinting and resulting in a lack of KCNQ1OT1 (604115) transcription. In the second case, a maternally inherited 160-kb inverted duplication that included only ICR2 and the most 5-prime 20 kb of KCNQ1OT1 resulted in a BWS (130650) phenotype in 5 individuals in 2 generations. This duplication was associated with hypomethylation of ICR2 resulting from partial loss of the imprinted methylation of the maternal allele, expression of a truncated KCNQ1OT1 transcript, and silencing of CDKN1C (600856). Chromatin RNA immunopurification studies suggested that the KCNQ1OT1 RNA interacts with chromatin through its most 5-prime 20-kb sequence, providing a mechanism for the silencing activity of this noncoding RNA. The finding of similar duplications of ICR2 resulting in different methylation imprints suggested that the ICR2 sequence is not sufficient for establishing DNA methylation on the maternal chromosome, and that some other property, possibly orientation-dependent, is needed. </p><p><strong><em>Chromosome 17</em></strong></p><p>
Ramirez-Duenas et al. (1992) observed severe Russell-Silver syndrome in a girl with translocation t(17;20)(q25;q13). No evidence of imbalance was found. The father exhibited the same balanced translocation. Ramirez-Duenas et al. (1992) questioned whether the RSS locus is located on either chromosome 17 or 20 and whether the patient's phenotype resulted from either unmasking of heterozygosity or genomic imprinting via paternal disomy. Midro et al. (1993) found the identical chromosome 17 breakpoint (17q25) in an 8-year-old boy with a de novo t(1;17)(q31;q25) and Silver-Russell syndrome. </p><p>In a child with RSS, Eggermann et al. (1998) reported a heterozygous paternally inherited deletion of the gene encoding chorionic somatomammotropin hormone (CSH1; 150200), which maps to 17q22-q24. The authors noted that deletions of CSH1 with no phenotypic consequences have been reported; however, a role for the heterozygous deletion in this case was considered possible. </p><p>Dorr et al. (2001) prepared a physical and transcript map of the critical region for the RSS translocation breakpoint on 17q23-q24. </p><p><strong><em>Chromosome 1</em></strong></p><p>
Van Haelst et al. (2002) reported a patient with phenotypic features of Silver-Russell syndrome who had trisomy 1q32.1-q42.1. </p><p><strong><em>Chromosome X</em></strong></p><p>
Li et al. (2004) reported a female infant with a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features consistent with Russell-Silver syndrome, including a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with downturned corner of the mouth, and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She also had a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of the Russell-Silver phenotype. </p>
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<strong>Molecular Genetics</strong>
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<p>Abu-Amero et al. (2008) provided a review of the complex genetic etiology of Silver-Russell syndrome, which primarily involves chromosomes 7 and 11. </p><p><strong><em>Genes on Chromosome 11</em></strong></p><p>
Given the crucial role of the 11p15 imprinted region in the control of fetal growth, Gicquel et al. (2005) hypothesized that dysregulation of genes at 11p15 might be involved in syndromic intrauterine growth retardation. In the telomeric imprinting center region ICR1 of the 11p15 region in several individuals with clinically typical Silver-Russell syndrome, they identified an epimutation (demethylation). The epigenetic defect was associated with, and probably responsible for, relaxation of imprinting and biallelic expression of H19 (103280) and downregulation of IGF2 (147470). These findings provided new insight into the pathogenesis of SRS and strongly suggested that the 11p15 imprinted region, in addition to the imprinted region of 7p13-p11.2 and 7q31-qter, is involved in SRS. The loss of paternal methylation in individuals with SRS may have resulted from a deficient acquisition of methylation during spermatogenesis or from a lack of maintenance of methylation after fertilization. The 5 individuals with SRS that carried the epimutation had only a partial loss of methylation, and 4 of them had body asymmetry. These data suggested that the loss of methylation occurred after fertilization and resulted in a mosaic distribution of the epimutation. </p><p>The epimutation described in individuals with SRS by Gicquel et al. (2005) is the exact opposite of one of the molecular defects responsible for Beckwith-Wiedemann syndrome (BWS; 130650): approximately 10% of individuals with BWS have hypermethylation of the H19 promoter. The most common epimutation in individuals with BWS involves the centromeric 11p15 subdomain and consists of loss of methylation of the maternal KCNQ1OT1 (604115) allele. Paternal inheritance of a null KCNQ1OT1 allele results in fetal growth retardation by 20 to 25% but does not affect expression of H19 or IGF2. One of the 5 individuals with the epimutation was a monozygotic twin, and her twin had no clinical features of SRS. Both twins had a loss of methylation in the telomeric 11p15 domain in their leukocyte DNA and biallelic expression of H19 in their blood cells. However, in skin fibroblasts, only the affected twin showed abnormal methylation. This observation was consistent with results obtained from BWS-discordant monozygotic twins and suggested that the presence of the epigenetic defect of blood cells of both twins results from shared fetal circulation. </p><p>The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor suppressor gene and the IGF2 growth factor. Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. Bliek et al. (2006) reported a series of patients with hypomethylation of the H19 locus. The main clinical features of asymmetry and growth retardation were the opposite of those seen in patients with hypermethylation of this region. In addition, they found that complete hypomethylation of the H19 promoter was associated in 2 of 3 patients with the full clinical spectrum of Silver-Russell syndrome. </p><p>Following up on the work of Gicquel et al. (2005) on epigenetic mutations in the etiology of SRS, Eggermann et al. (2006) screened a cohort of 51 SRS patients for epimutations in ICR1 (the telomeric imprinting center region of 11p15) and KCNQ1OT1 (604115) by methylation-sensitive Southern blot analyses. ICR1 demethylation was observed in 16 of the 51 SRS patients, corresponding to a frequency of approximately 31%. Changes in methylation at the KCNQ1OT1 locus were not detected. Combining these data with those on maternal duplications in 11p15, nearly 35% of SRS cases are associated with detectable (epi)genetic disturbances in 11p15. Eggermann et al. (2006) suggested that a general involvement of 11p15 changes in growth-retarded patients with only minor or without further dysmorphic features must be considered. SRS and BWS may be regarded as 2 diseases caused by opposite (epi)genetic disturbances of the same chromosomal region displaying opposite clinical pictures. </p><p>Schonherr et al. (2007) stated that methylation defects in the imprinted region of 11p15 can be detected in about 30% of patients with SRS. They reported the first patient with SRS with a cryptic duplication restricted to the centromeric imprinting center ICR2 in 11p15. The maternally inherited duplication in this patient included a region of 0.76 to 1.0 Mbp and affected the genes regulated by the ICR2, among them CDKN1C (600856) and LIT1 (604115). </p><p>Netchine et al. (2007) screened for 11p15 epimutation and mUPD7 in SRS and non-SRS small-for-gestational-age (SGA) patients to identify epigenetic-phenotypic correlations. Of the 127 SGA patients studied, 58 were diagnosed with SRS; 37 of these (63.8%) displayed partial loss of methylation (LOM) of the 11p15 ICR1 domain, and 3 (5.2%) had mUPD7. No molecular abnormalities were found in the non-SRS SGA group. Birth weight, birth length, and postnatal body mass index (BMI) were lower in the abnormal 11p15 SRS group (ab-ICR1-SRS) than in the normal 11p15 SRS group (-3.4 vs -2.6 SD score (SDS), -4.4 vs -3.4 SDS, and -2.5 vs -1.6 SDS, respectively; p less than 0.05). Among SRS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. All ab-ICR1-SRS patients had at least 4 of 5 criteria of the scoring system. Netchine et al. (2007) concluded that the 11p15 ICR1 epimutation is a major, specific cause of SRS exhibiting failure to thrive. They proposed a clinical scoring system (including a BMI of less than -2 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of SRS. </p><p>Bullman et al. (2008) reported a patient with SRS who had mosaic maternal uniparental disomy of chromosome 11 with abnormal methylation of ICR2. MLPA analysis showed 12 informative loci between chromosome 11p15.5 to 11q23.3. The isodisomy was the reciprocal of the mosaic paternal isodisomy seen in patients with BWS. </p><p>Azzi et al. (2009) studied the methylation status of 5 maternally and 2 paternally methylated loci in a series of 167 patients with 11p15-related fetal growth disorders. Seven of 74 (9.5%) Russell-Silver (RSS) patients and 16 of 68 (24%) Beckwith-Wiedemann (BWS; 130650) patients showed multilocus loss of methylation (LOM) at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two-thirds of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found, suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, 4 patients displayed LOM at both ICR1 and ICR2 11p15; 3 of them had a RSS and 1 patient had a BWS phenotype. The authors concluded that multilocus LOM can also concern RSS patients, and that LOM can involve both paternally and maternally methylated loci in the same patient. </p><p>Using PCR-based methylation analysis, Penaherrera et al. (2010) found that 13 (37%) of 35 blood samples from patients with SRS showed methylation levels at H19/IGF2 ICR1 that were more than 2 SD below the mean for controls. Clinically, SRS patients had a lower birth weight (at least 2 SD below the mean), relative macrocephaly, and a higher frequency of body asymmetry compared to SRS patients without these epigenetic changes. One patient had a mediastinal neuroblastoma. Controls had considerable variability in methylation (30 to 47%) at ICR1, which Penaherrera et al. (2010) noted can cause some ambiguity in establishing clear cutoffs for diagnosis. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
Previous studies had shown that individuals with a deletion of 15q26.1-qter, which includes the insulin-like growth factor I receptor gene (IGF1R; 147370), may exhibit some phenotypic characteristics resembling those of Russell-Silver syndrome. Abu-Amero et al. (1997) investigated 33 RSS probands, with normal karyotypes, and their parents for the presence of both copies of IGF1R by gene dosage analysis of Southern blot hybridization. All 33 probands had both copies of the gene. Two important functional regions of IGF1R were also investigated for DNA mutations using SSCP analysis; no mutations were found. The patients were from the series of cases studied by Preece et al. (1997). </p><p>Penaherrera et al. (2010) found no changes in methylation of the KVDMR1 (see KCNQ1; 607542), PLAGL1 (603044), or PEG10 (609810) genes in blood samples of 35 patients with SRS. Whole genome methylation analysis of a subset of 22 SRS patients, including 10 who had hypomethylation at ICR1, showed no global disruption in methylation in these patients compared to controls. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Binder et al. (2008) compared the genotype in 44 patients with SRS with the endocrine phenotype. Epimutations at 11p15 were found in 19 of the 44, UPD7 in 5, and small structural aberrations of the short arm of chromosome 11 in 2. Of the 44 cases, 18 were negative for any genetic defect known (41%). The most severe phenotype was found in children with 11p15 SRS. Children with UPD7 SRS had a significantly higher birth length than the 11p15 SRS subjects (P less than 0.004) but lost height SD score postpartum, whereas children with 11p15 SRS showed no change in height SD score. There was a trend toward more height gain in children with UPD7 than in those with 11p15 epimutation under GH therapy (+2.5 vs +1.9 height SD score after 3 years) (P = 0.08). Binder et al. (2008) concluded that children with SRS and an 11p15 epimutation have IGFBP3 (146732) excess and show endocrine characteristics suggesting IGF1 (147440) insensitivity, whereas children with SRS and UPD7 were not different with respect to endocrine characteristics from nonsyndromic short children born SGA. This phenotype-genotype correlation implicated divergent endocrine mechanisms of growth failure in SRS. </p><p>Bartholdi et al. (2009) found that 106 (53%) of 201 patients with suspected SRS actually fulfilled clinical criteria for the disorder. Hypomethylation at the ICR1 on chromosome 11p15 was observed in 41 (38.5%) of the 106 patients. The majority of patients showed hypomethylation of both H19 and IGF2, but 10 showed selective hypomethylation of H19 and 2 showed selective hypomethylation of IGF2. However, the authors noted that the IGF2-specific probe showed a broader variation in controls as compared to the H19 probe. Seven (6.6%) of the 106 patients had uniparental disomy of chromosome 7. Patients carrying epimutations had higher disease scores than those with maternal uniparental disomy of chromosome 7 or those with no identified defects, indicating that hypomethylation at 11p15 was associated with a more severe phenotype, particularly body asymmetry. No genetic anomaly was detected in 54.7% of patients. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Tanner and Ham (1969) suggested that the designation 'Silver dwarf' be reserved for children of short stature and low birth weight who have asymmetry of arms, legs, body or head, and incurved fifth fingers. They suggested that the designation 'Russell dwarf' be reserved for the similar situation when asymmetry is lacking. Patton (1988) noted that this distinction had not been generally accepted. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Angehrn et al. (1979); Moseley et al. (1966); Robichaux et al.
(1981); Silver (1964); Weiss and Garnick (1981)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
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Abu-Amero, S., Monk, D., Frost, J., Preece, M., Stanier, P., Moore, G. E.
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Binder, G., Seidel, A.-K., Martin, D. D., Schweizer, R., Schwarze, C. P., Wollmann, H. A., Eggermann, T., Ranke, M. B.
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Chitayat, D., Friedman, J. M., Anderson, L., Dimmick, J. E.
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Donnai, D., Thompson, E., Allanson, J., Baraitser, M.
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Dorr, S., Midro, A. T., Farber, C., Giannakudis, J., Hansmann, I.
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Duncan, P. A., Hall, J. G., Shapiro, L. R., Vibert, B. K.
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Eggermann, T., Schonherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M. B., Wollmann, H. A.
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Moseley, J. E., Moloshok, R. E., Freiberger, R. H.
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Netchine, I., Rossignol, S., Dufourg, M.-N., Azzi, S., Rousseau, A., Perin, L., Houang, M., Steunou, V., Esteva, B., Thibaud, N., Demay, M.-C. R., Danton, F., and 10 others.
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Penaherrera, M. S., Weindler, S., Van Allen, M. I., Yong, S.-L., Metzger, D. L., McGillivray, B., Boerkoel, C., Langlois, S., Robinson, W. P.
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</p>
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Preece, M. A., Price, S. M., Davies, V., Clough, L., Stanier, P., Trembath, R. C., Moore, G. E.
<strong>Maternal uniparental disomy 7 in Silver-Russell syndrome.</strong>
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<p class="mim-text-font">
Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C.
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<li>
<p class="mim-text-font">
Ramirez-Duenas, M. L., Medina, C., Ocampo-Campos, R., Rivera, H.
<strong>Severe Silver-Russell syndrome and translocation (17;20)(q25;q13).</strong>
Clin. Genet. 41: 51-53, 1992.
[PubMed: 1633648]
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03630.x]
</p>
</li>
<li>
<p class="mim-text-font">
Rimoin, D. L.
<strong>The Silver syndrome in twins.</strong>
Birth Defects Orig. Art. Ser. V(2): 183-187, 1969.
</p>
</li>
<li>
<p class="mim-text-font">
Robichaux, V., Fraikor, A., Favara, B., Richer, M.
<strong>Silver-Russell syndrome: a family with symmetric and asymmetric siblings.</strong>
Arch. Path. Lab. Med. 105: 157-159, 1981.
[PubMed: 6894081]
</p>
</li>
<li>
<p class="mim-text-font">
Russell, A.
<strong>A syndrome of intra-uterine-dwarfism recognizable at birth with cranio-facial dysostosis, disproportionate short arms, and other anomalies (5 examples).</strong>
Proc. Roy. Soc. Med. 47: 1040-1044, 1954.
[PubMed: 13237189]
</p>
</li>
<li>
<p class="mim-text-font">
Samn, M., Lewis, K., Blumberg, B.
<strong>Monozygotic twins discordant for the Russell-Silver syndrome.</strong>
Am. J. Med. Genet. 37: 543-545, 1990.
[PubMed: 2260605]
[Full Text: https://doi.org/10.1002/ajmg.1320370424]
</p>
</li>
<li>
<p class="mim-text-font">
Schonherr, N., Meyer, E., Roos, A., Schmidt, A., Wollmann, H. A., Eggermann, T.
<strong>The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.</strong>
J. Med. Genet. 44: 59-63, 2007.
[PubMed: 16963484]
[Full Text: https://doi.org/10.1136/jmg.2006.044370]
</p>
</li>
<li>
<p class="mim-text-font">
Silver, H. K., Kiyasu, W., George, J., Deamer, W. C.
<strong>Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.</strong>
Pediatrics 12: 368-376, 1953.
[PubMed: 13099907]
</p>
</li>
<li>
<p class="mim-text-font">
Silver, H. K.
<strong>Asymmetry, short stature, and variations in sexual development: a syndrome of congenital malformations.</strong>
Am. J. Dis. Child. 107: 495-515, 1964.
[PubMed: 14120415]
[Full Text: https://doi.org/10.1001/archpedi.1964.02080060497011]
</p>
</li>
<li>
<p class="mim-text-font">
Tanner, J. M., Ham, T. J.
<strong>Low birthweight dwarfism with asymmetry (Silver&#x27;s syndrome): treatment with human growth hormone.</strong>
Arch. Dis. Child. 44: 231-243, 1969.
[PubMed: 5779433]
[Full Text: https://doi.org/10.1136/adc.44.234.231]
</p>
</li>
<li>
<p class="mim-text-font">
Tanner, J. M., Lejarraga, H., Cameron, N.
<strong>The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases.</strong>
Pediat. Res. 9: 611-623, 1975.
[PubMed: 168551]
[Full Text: https://doi.org/10.1203/00006450-197508000-00001]
</p>
</li>
<li>
<p class="mim-text-font">
Teebi, A. S.
<strong>Autosomal recessive Silver-Russell syndrome.</strong>
Clin. Dysmorph. 1: 151-156, 1992.
[PubMed: 1285272]
</p>
</li>
<li>
<p class="mim-text-font">
van Haelst, M. M., Eussen, H. J. F. M. M., Visscher, F., de Ruijter, J. L. M., Drop, S. L. S., Lindhout, D., Wouters, C. H., Govaerts, L. C. P.
<strong>Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome. (Letter)</strong>
J. Med. Genet. 39: 582-585, 2002.
[PubMed: 12161598]
[Full Text: https://doi.org/10.1136/jmg.39.8.582]
</p>
</li>
<li>
<p class="mim-text-font">
Weiss, G. R., Garnick, M. B.
<strong>Testicular cancer in a Russell-Silver dwarf.</strong>
J. Urol. 126: 836-837, 1981.
[PubMed: 6119370]
[Full Text: https://doi.org/10.1016/s0022-5347(17)54773-4]
</p>
</li>
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Contributors:
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Hilary J. Vernon - updated : 11/04/2020<br>Matthew B. Gross - updated : 1/15/2015<br>Cassandra L. Kniffin - updated : 12/11/2014<br>Jane Kelly - updated : 8/15/2011<br>Cassandra L. Kniffin - updated : 7/7/2011<br>George E. Tiller - updated : 11/1/2010<br>Cassandra L. Kniffin - updated : 6/1/2009<br>Cassandra L. Kniffin - updated : 3/23/2009<br>John A. Phillips, III - updated : 2/26/2009<br>Cassandra L. Kniffin - updated : 10/2/2008<br>Cassandra L. Kniffin - updated : 8/15/2008<br>John A. Phillips, III - updated : 3/24/2008<br>Victor A. McKusick - updated : 2/21/2007<br>Victor A. McKusick - updated : 10/10/2006<br>Victor A. McKusick - updated : 9/13/2006<br>Victor A. McKusick - updated : 3/15/2006<br>Victor A. McKusick - updated : 9/27/2005<br>Patricia A. Hartz - updated : 2/3/2005<br>Victor A. McKusick - updated : 1/3/2005<br>Siobhan M. Dolan - updated : 7/29/2004<br>Cassandra L. Kniffin - reorganized : 11/17/2003<br>Deborah L. Stone - updated : 2/12/2003<br>Victor A. McKusick - updated : 11/19/2002<br>Victor A. McKusick - updated : 11/7/2002<br>Michael J. Wright - updated : 7/1/2002<br>Victor A. McKusick - updated : 1/4/2002<br>Victor A. McKusick - updated : 10/19/2001<br>Michael B. Petersen - updated : 8/16/2001<br>Victor A. McKusick - updated : 1/24/2001<br>Michael J. Wright - updated : 1/9/2001<br>Victor A. McKusick - updated : 10/5/2000<br>Michael J. Wright - updated : 2/7/2000<br>Victor A. McKusick - updated : 12/29/1999<br>Victor A. McKusick - updated : 10/19/1999<br>Victor A. McKusick - updated : 11/30/1998<br>Michael J. Wright - updated : 10/7/1998<br>Victor A. McKusick - updated : 3/13/1998<br>Victor A. McKusick - updated : 11/7/1997<br>Victor A. McKusick - updated : 4/1/1997
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Victor A. McKusick : 5/16/1994
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