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<meta name="keywords" content="C3553785, disease or syndrome, ltbp2, ltbp2 weill-marchesani syndrome, ltbp2-related weill-marchesani syndrome, weill-marchesani syndrome 3, weill-marchesani syndrome 3, recessive, weill-marchesani syndrome caused by mutation in ltbp2, weill-marchesani syndrome type 3, wms3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=766699
|
||
ConceptID=C3553785
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Weill-Marchesani syndrome 3<span class="h1sub">(WMS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766699</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LTBP2-Related Weill-Marchesani Syndrome; Weill-Marchesani syndrome 3, recessive; WMS3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="LTBP2 - ID: 4053 - NCBI Gene" href="/gene/4053" class="medgenPMinfo">LTBP2</a> (14q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013899" target="_blank">MONDO:0013899</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614819" target="_blank">614819</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1114" target="_blank">Weill-Marchesani Syndrome</a></div><div>Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Summary" target="NBK1114">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Diagnosis" target="NBK1114">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Clinical_Characteristics" target="NBK1114">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Genetically_Related_Allelic_Dis" target="NBK1114">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Differential_Diagnosis" target="NBK1114">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Management" target="NBK1114">Management</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Genetic_Counseling" target="NBK1114">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Resources" target="NBK1114">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Molecular_Genetics" target="NBK1114">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.Chapter_Notes" target="NBK1114">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1114#weill-ms.References" target="NBK1114">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Pauline Marzin | Valérie Cormier-Daire | Ekaterini Tsilou <a href="/books/NBK1114" target="NBK1114" title="NCBI Bookshelf: Weill-Marchesani Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600. <a target="_blank" href="http://www.omim.org/entry/614819">http://www.omim.org/entry/614819</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1621"><div><strong>Aortic valve stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a stenosis (narrowing) of the aortic valve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621">Feature record</a> | <a href="/medgen?term=%22Aortic%20valve%20stenosis%22%5BClinical%20Features%5D%20OR%201621%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_408291"><div><strong>Pulmonic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408291</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1956257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen?term=%22Pulmonic%20stenosis%22%5BClinical%20Features%5D%20OR%20408291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56403"><div><strong>Joint stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56403</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56403">Feature record</a> | <a href="/medgen?term=%22Joint%20stiffness%22%5BClinical%20Features%5D%20OR%2056403%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41704"><div><strong>Ectopia lentis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41704">Feature record</a> | <a href="/medgen?term=%22Ectopia%20lentis%22%5BClinical%20Features%5D%20OR%2041704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68606"><div><strong>Raised intraocular pressure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68606</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intraocular pressure that is 2 standard deviations above the population mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68606">Feature record</a> | <a href="/medgen?term=%22Raised%20intraocular%20pressure%22%5BClinical%20Features%5D%20OR%2068606%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78759"><div><strong>High myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78759</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0271183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of myopia with greater than -6.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78759">Feature record</a> | <a href="/medgen?term=%22High%20myopia%22%5BClinical%20Features%5D%20OR%2078759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_602215"><div><strong>Shallow anterior chamber</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>602215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/602215">Feature record</a> | <a href="/medgen?term=%22Shallow%20anterior%20chamber%22%5BClinical%20Features%5D%20OR%20602215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_288328"><div><strong>Microspherophakia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>288328</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1562061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/288328">Feature record</a> | <a href="/medgen?term=%22Microspherophakia%22%5BClinical%20Features%5D%20OR%20288328%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic valve stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_408291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonic stenosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectopia lentis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_288328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microspherophakia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68606" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raised intraocular pressure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_602215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shallow anterior chamber</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint stiffness</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265313[DISCUI]&test_type=Clinical" ref="ncbi_uid=82705">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1114/" ref="ncbi_uid=82705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82705" ref="ncbi_uid=82705">V</a></span></span><span class="TLline"><a href="/medgen/82705" ref="tree=GTR&ncbi_uid=82705&link_uid=82705" title="View MedGen record for 'Weill-Marchesani syndrome'">Weill-Marchesani syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750787[DISCUI]&test_type=Clinical" ref="ncbi_uid=416383">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416383" target="_blank" href="/omim/607511">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1114/" ref="ncbi_uid=416383">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416383" ref="ncbi_uid=416383">V</a></span></span><span class="TLline"><a href="/medgen/416383" ref="tree=GTR&ncbi_uid=416383&link_uid=416383" title="View MedGen record for 'Weill-Marchesani 4 syndrome, recessive'">Weill-Marchesani 4 syndrome, recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4552002[DISCUI]&test_type=Clinical" ref="ncbi_uid=1637058">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1637058" target="_blank" href="/omim/277600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1114/" ref="ncbi_uid=1637058">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1637058" ref="ncbi_uid=1637058">V</a></span></span><span class="TLline"><a href="/medgen/1637058" ref="tree=GTR&ncbi_uid=1637058&link_uid=1637058" title="View MedGen record for 'Weill-Marchesani syndrome 1'">Weill-Marchesani syndrome 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553785[DISCUI]&test_type=Clinical" ref="ncbi_uid=766699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766699" target="_blank" href="/omim/602091">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1114/" ref="ncbi_uid=766699">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766699" ref="ncbi_uid=766699">V</a></span></span><span class="TLline">Weill-Marchesani syndrome 3</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1869115[DISCUI]&test_type=Clinical" ref="ncbi_uid=358388">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358388" target="_blank" href="/omim/134797">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1114/" ref="ncbi_uid=358388">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358388" ref="ncbi_uid=358388">V</a></span></span><span class="TLline"><a href="/medgen/358388" ref="tree=GTR&ncbi_uid=358388&link_uid=358388" title="View MedGen record for 'Weill-Marchesani syndrome 2, dominant'">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843369" ref="tree=MeSH" title="MedGen record for Acromelic dysplasia">Acromelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="matched_ds">Weill-Marchesani syndrome 3</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23059485">Glaucoma in microspherophakia: presenting features and treatment outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senthil S,
|
||
Rao HL,
|
||
Hoang NT,
|
||
Jonnadula GB,
|
||
Addepalli UK,
|
||
Mandal AK,
|
||
Garudadari CS</span><br />
|
||
<span class="medgenPMjournal">J Glaucoma</span>
|
||
2014 Apr-May;23(4):262-7.
|
||
doi: 10.1097/IJG.0b013e3182707437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23059485" target="_blank">23059485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/953198">Differential diagnosis and treatment of dislocated lenses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cross HE</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1976;12(3):335-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/953198" target="_blank">953198</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(weill-marchesani%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27068007">Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McInerney-Leo AM,
|
||
Le Goff C,
|
||
Leo PJ,
|
||
Kenna TJ,
|
||
Keith P,
|
||
Harris JE,
|
||
Steer R,
|
||
Bole-Feysot C,
|
||
Nitschke P,
|
||
Kielty C,
|
||
Brown MA,
|
||
Zankl A,
|
||
Duncan EL,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2016 Jul;53(7):457-64.
|
||
Epub 2016 Apr 11
|
||
doi: 10.1136/jmedgenet-2015-103647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27068007" target="_blank">27068007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791552">From tall to short: the role of TGFβ signaling in growth and its disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):145-53.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791552" target="_blank">22791552</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Weill-Marchesani%20syndrome%203%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/25571963">Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
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Cormier-Daire V</span><br />
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2009 Mar;6(3):418-23.
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<span class="bold">PMID: </span><a href="/pubmed/19396027" target="_blank">19396027</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wentzloff JN,
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Kaldawy RM,
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Chen TC</span><br />
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<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
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2006 May-Jun;43(3):192.
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doi: 10.3928/01913913-20060301-17.
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<span class="bold">PMID: </span><a href="/pubmed/16761646" target="_blank">16761646</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14522758">Angle closure in younger patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ritch R,
|
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Chang BM,
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Liebmann JM</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2003 Oct;110(10):1880-9.
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doi: 10.1016/S0161-6420(03)00563-3.
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<span class="bold">PMID: </span><a href="/pubmed/14522758" target="_blank">14522758</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12648208">Anesthetic management of a patient with Weill-Marchesani syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dal D,
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Sahin A,
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Aypar U</span><br />
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<span class="medgenPMjournal">Acta Anaesthesiol Scand</span>
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2003 Mar;47(3):369-70.
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doi: 10.1034/j.1399-6576.2003.00069.x.
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<span class="bold">PMID: </span><a href="/pubmed/12648208" target="_blank">12648208</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Weill-Marchesani%20syndrome%203%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31114122">Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kalamkar C,
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Radke NV,
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Radke SN</span><br />
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2019 Jan-Mar;26(1):33-36.
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doi: 10.4103/meajo.MEAJO_162_16.
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<span class="bold">PMID: </span><a href="/pubmed/31114122" target="_blank">31114122</a><a href="/pmc/articles/PMC6507376" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23059485">Glaucoma in microspherophakia: presenting features and treatment outcomes.</a></div>
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Rao HL,
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Hoang NT,
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Jonnadula GB,
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Mandal AK,
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<span class="bold">PMID: </span><a href="/pubmed/23059485" target="_blank">23059485</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16633042">Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Burakgazi AZ,
|
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Ozbek Z,
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Rapuano CJ,
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Rhee DJ</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/16633042" target="_blank">16633042</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14522284">Modified capsular tension ring for patients with congenital loss of zonular support.</a></div>
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Osher RH,
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Marques DM,
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Marques FF,
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2003 Sep;29(9):1668-73.
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doi: 10.1016/s0886-3350(03)00238-4.
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<span class="bold">PMID: </span><a href="/pubmed/14522284" target="_blank">14522284</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/5173776">Weill-Marchesani syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paton D,
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<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Weill-Marchesani%20syndrome%203%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34844569">Primary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang A,
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Fan Q,
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Jiang Y,
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doi: 10.1186/s12886-021-02182-0.
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<div class="nl"><a target="_blank" href="/pubmed/20375329">An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farias FH,
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Johnson GS,
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Taylor JF,
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Giuliano E,
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Katz ML,
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Sanders DN,
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Schnabel RD,
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McKay SD,
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Khan S,
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Gharahkhani P,
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O'Leary CA,
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Pettitt L,
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Forman OP,
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Boursnell M,
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McLaughlin B,
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Ahonen S,
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Lohi H,
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Hernandez-Merino E,
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Gould DJ,
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Sargan DR,
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Mellersh C</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/20375329" target="_blank">20375329</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18063893">A case of Weill-Marchesani syndrome with inversion of chromosome 15.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chung JL,
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Kim SW,
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Kim JH,
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Kim TI,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16633042">Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burakgazi AZ,
|
||
Ozbek Z,
|
||
Rapuano CJ,
|
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Rhee DJ</span><br />
|
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<span class="medgenPMjournal">Cornea</span>
|
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2006 Apr;25(3):361-3.
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doi: 10.1097/01.ico.0000178724.04070.ce.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16633042" target="_blank">16633042</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Weill-Marchesani%20syndrome%203%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26695613">A new combined surgical approach in a patient with microspherophakia and developmental iridocorneal angle anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Satana B,
|
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Altan C,
|
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Basarir B,
|
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Alkin Z,
|
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Yilmaz OF</span><br />
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<span class="medgenPMjournal">Nepal J Ophthalmol</span>
|
||
2015 Jan-Jun;7(1):85-9.
|
||
doi: 10.3126/nepjoph.v7i1.13178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26695613" target="_blank">26695613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791552">From tall to short: the role of TGFβ signaling in growth and its disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
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Cormier-Daire V</span><br />
|
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
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2012 Aug 15;160C(3):145-53.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791552" target="_blank">22791552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20375329">An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farias FH,
|
||
Johnson GS,
|
||
Taylor JF,
|
||
Giuliano E,
|
||
Katz ML,
|
||
Sanders DN,
|
||
Schnabel RD,
|
||
McKay SD,
|
||
Khan S,
|
||
Gharahkhani P,
|
||
O'Leary CA,
|
||
Pettitt L,
|
||
Forman OP,
|
||
Boursnell M,
|
||
McLaughlin B,
|
||
Ahonen S,
|
||
Lohi H,
|
||
Hernandez-Merino E,
|
||
Gould DJ,
|
||
Sargan DR,
|
||
Mellersh C</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2010 Sep;51(9):4716-21.
|
||
Epub 2010 Apr 7
|
||
doi: 10.1167/iovs.09-5142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20375329" target="_blank">20375329</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Weill-Marchesani%20syndrome%203%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3553785%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553785%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553785%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3553785%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
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</ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614819" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Weill-Marchesani%20syndrome%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(weill-marchesani%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=766699" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5a12767c23b31e0008d2a">Weill-Marchesani syndrome 3</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d5a12384f3725e597d0e72">Weill-Marchesani syndrome 1</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5a11e84f3725e597d01af">Weill-Marchesani 4 syndrome, recessive</a>
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<div class="ralinkpop offscreen_noflow">Weill-Marchesani 4 syndrome, recessive<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d5a11867c23b31e0005701">Weill-Marchesani syndrome</a>
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<div class="tertiary">MedGen</div>
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