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<meta name="keywords" content="C1442965, aseptic necrosis of capital femoral epiphysis, aseptic necrosis of the capital femoral epiphysis, avascular necrosis of capital femoral epiphysis, avascular necrosis of the capital femoral epiphysis, calve - perthes' disease, col2a1, coxa plana, disease or syndrome, disease, legg-calve-perthes, disease, legg-calvé-perthes, disease, legg-perthes, disease, perthes, juvenile osteochond-hip/pelvis, juvenile osteochondrosis of hip and pelvis, juvenile osteochondrosis of hip and/or pelvis, lcp, lcpd, legg calve perthes disease, legg calve perthes syndrome, legg calvé perthes disease, legg calvé perthes syndrome, legg perthes disease, legg-calve-perthes disease, legg-calve-perthes symptom, legg-calve-perthes syndrome, legg-calvé-perthes disease, legg-calvé-perthes syndrome, legg-perthes disease, morbus legg-calve-perthes, osteochondritis deforman, osteochondritis deformans, osteochondritis of the capital femoral epiphysis, osteochondrosis of legg-calve-perthes, osteochondrosis of the capital femoral epiphysis, osteochondrosis of the femoral head, osteonecrosis of capital femoral epiphysis, osteonecrosis of the femoral head, perthe's disease, perthes disease, perthes disease of hip, perthes-like femoral head changes, pseudocoxalgia, syndrome, legg-calve-perthes, syndrome, legg-calvé-perthes, 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="Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=730669
|
||
ConceptID=C1442965
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Legg-Calve-Perthes disease<span class="h1sub">(LCPD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>730669</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."><span class="highlight" style="background-color:">C1442965</span></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>Avascular necrosis of the capital femoral epiphysis; Coxa plana; Osteochondritis deformans; PERTHES DISEASE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Perthes disease (111255008); Perthes disease of hip (111255008); Aseptic necrosis of capital femoral epiphysis (111255008); Pseudocoxalgia (111255008); Legg-Calve-Perthes disease (111255008); Osteonecrosis of capital femoral epiphysis (111255008); Avascular necrosis of capital femoral epiphysis (111255008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_109109"><div><strong>Non-Mendelian inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109109</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.">C0600599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that depends on genetic determinants in more than one gene.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_109109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Mendelian inheritance</a><span> (Orphanet)</span></div></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="COL2A1 - ID: 1280 - NCBI Gene" href="/gene/1280" class="medgenPMinfo">COL2A1</a> (12q13.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005743">HP:0005743</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007885" target="_blank">MONDO:0007885</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/150600" target="_blank">150600</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2380">ORPHA2380</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_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_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_108148"><div><strong>Delayed skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108148</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.">C0541764</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108148">Feature record</a> | <a href="/medgen?term=%22Delayed%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20108148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_730669"><div><strong>Legg-Calve-Perthes disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>730669</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."><span class="highlight" style="background-color:">C1442965</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/730669">Feature record</a> | <a href="/medgen?term=%22Legg-Calve-Perthes%20disease%22%5BClinical%20Features%5D%20OR%20730669%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 the musculoskeletal system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed skeletal maturation</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_730669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Legg-Calve-Perthes disease</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
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<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>
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<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>
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1442965[DISCUI]&test_type=Clinical" ref="ncbi_uid=730669">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=730669" target="_blank" href="/omim/120140">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=730669" ref="ncbi_uid=730669">V</a></span></span><span class="TLline">Legg-Calve-Perthes disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/1728335" ref="tree=MeSH" title="MedGen record for Abnormal musculoskeletal physiology">Abnormal musculoskeletal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/10200" ref="tree=MeSH" title="MedGen record for Avascular necrosis">Avascular necrosis</a></span><ul><li><span class="TLline"><a href="/medgen/892393" ref="tree=MeSH" title="MedGen record for Juvenile aseptic necrosis">Juvenile aseptic necrosis</a></span><ul><li><span class="matched_ds">Legg-Calve-Perthes disease</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_6009"><div><strong>Langer-Giedion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6009</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.">C0023003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6009">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140929"><div><strong>Trichorhinophalangeal dysplasia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140929</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.">C0432233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140929">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_730669"><div><strong>Legg-Calve-Perthes disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>730669</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."><span class="highlight" style="background-color:">C1442965</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/730669">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325376"><div><strong>Multiple epiphyseal dysplasia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325376</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.">C1838280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325376">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_333593"><div><strong>Hip dysplasia, Beukes type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333593</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.">C1840572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Beukes hip dysplasia (HDB) is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of HDB include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/333593">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349899"><div><strong>Trichorhinophalangeal syndrome, type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349899</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.">C1860823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by Ludecke et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349899">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355785"><div><strong>Spondyloepiphyseal dysplasia tarda, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355785</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.">C1866717</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355785">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_370587"><div><strong>Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370587</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.">C1969055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/370587">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</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.">C3151445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481939"><div><strong>Arthrogryposis, Perthes disease, and upward gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481939</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.">C3280309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481939">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1386338"><div><strong>Avascular necrosis of femoral head, primary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386338</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.">C4479260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1386338">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1639295"><div><strong>Avascular necrosis of femoral head, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639295</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.">C4551562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24. Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1639295">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1644087"><div><strong>Trichohepatoenteric syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644087</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.">C4551982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1644087">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1778114"><div><strong>Martsolf syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778114</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.">C5542298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1778114">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1785846"><div><strong>Osteootohepatoenteric syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785846</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.">C5543557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1785846">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481939" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, Perthes disease, and upward gaze palsy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Avascular necrosis of femoral head, primary, 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1386338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Avascular necrosis of femoral head, primary, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hip dysplasia, Beukes type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Langer-Giedion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_730669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Legg-Calve-Perthes disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martsolf syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple epiphyseal dysplasia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteootohepatoenteric syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichohepatoenteric syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichorhinophalangeal dysplasia type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichorhinophalangeal syndrome, type III</a></div></span></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/8126052">The treatment of Legg-Calvé-Perthes disease. A critical review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herring JA</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1994 Mar;76(3):448-58.
|
||
doi: 10.2106/00004623-199403000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8126052" target="_blank">8126052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6038855">Conservative treatment of Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katz JF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1967 Sep;49(6):1043-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6038855" target="_blank">6038855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13539100">Treatment in Legg-Calvé-Perthes' disease; a comparison of in-patient and out-patient methods.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">EVANS DL,
|
||
LLOYD-ROBERTS GC</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
|
||
1958 May;40-B(2):182-9.
|
||
doi: 10.1302/0301-620X.40B2.182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13539100" target="_blank">13539100</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22legg-calve-perthes%20disease%22%5Btiab%3A~0%5D)%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 (59)</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/35675179">Legg-Calvé-Perthes Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tai TH,
|
||
Wong CC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Jun 9;386(23):e62.
|
||
doi: 10.1056/NEJMicm2118649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35675179" target="_blank">35675179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35292045">Legg-Calvé-Perthes disease overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Olivas AO,
|
||
Hernández-Zamora E,
|
||
Reyes-Maldonado E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Mar 15;17(1):125.
|
||
doi: 10.1186/s13023-022-02275-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35292045" target="_blank">35292045</a><a href="/pmc/articles/PMC8922924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155310">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leroux J,
|
||
Abu Amara S,
|
||
Lechevallier J</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S107-S112.
|
||
Epub 2017 Nov 16
|
||
doi: 10.1016/j.otsr.2017.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155310" target="_blank">29155310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439014">Transient synovitis, septic hip, and Legg-Calvé-Perthes disease: an approach to the correct diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cook PC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2014 Dec;61(6):1109-18.
|
||
Epub 2014 Sep 29
|
||
doi: 10.1016/j.pcl.2014.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439014" target="_blank">25439014</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6386709">Perthes' disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klisić PJ</span><br />
|
||
<span class="medgenPMjournal">Int Orthop</span>
|
||
1984;8(2):95-102.
|
||
doi: 10.1007/BF00265831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6386709" target="_blank">6386709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Legg-Calve-Perthes%20disease%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 (799)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35292045">Legg-Calvé-Perthes disease overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Olivas AO,
|
||
Hernández-Zamora E,
|
||
Reyes-Maldonado E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Mar 15;17(1):125.
|
||
doi: 10.1186/s13023-022-02275-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35292045" target="_blank">35292045</a><a href="/pmc/articles/PMC8922924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34584612">Legg-Calve-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goyal C,
|
||
Shukla A</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2021;39:187.
|
||
Epub 2021 Jul 8
|
||
doi: 10.11604/pamj.2021.39.187.30522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34584612" target="_blank">34584612</a><a href="/pmc/articles/PMC8449575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25248443">Perthes' disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kannu P,
|
||
Howard A</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2014 Sep 23;349:g5584.
|
||
doi: 10.1136/bmj.g5584.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25248443" target="_blank">25248443</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2045406">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wenger DR,
|
||
Ward WT,
|
||
Herring JA</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1991 Jun;73(5):778-88.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2045406" target="_blank">2045406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3331432">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunnell WP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1986 Apr;7(10):299-304.
|
||
doi: 10.1542/pir.7-10-299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3331432" target="_blank">3331432</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Legg-Calve-Perthes%20disease%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 (604)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30865865">Varus Derotational Osteotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mundluru SN,
|
||
Feldman D</span><br />
|
||
<span class="medgenPMjournal">Bull Hosp Jt Dis (2013)</span>
|
||
2019 Mar;77(1):53-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30865865" target="_blank">30865865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24975766">Use of bisphosphonates in orthopedic surgery: pearls and pitfalls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lozano-Calderon SA,
|
||
Colman MW,
|
||
Raskin KA,
|
||
Hornicek FJ,
|
||
Gebhardt M</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2014 Jul;45(3):403-16.
|
||
doi: 10.1016/j.ocl.2014.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24975766" target="_blank">24975766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21742139">The epidemiology and etiology of Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry DC,
|
||
Hall AJ</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2011 Jul;42(3):279-83, v.
|
||
Epub 2011 May 12
|
||
doi: 10.1016/j.ocl.2011.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21742139" target="_blank">21742139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9790256">Slipped capital femoral epiphysis, Perthes' disease and scoliosis in children with growth hormone deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishi Y,
|
||
Tanaka T,
|
||
Fujieda K,
|
||
Hanew K,
|
||
Hirano T,
|
||
Igarashi Y,
|
||
Tachibana K,
|
||
Yokoya S,
|
||
Takano K</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
1998 Apr;45 Suppl:S167-9.
|
||
doi: 10.1507/endocrj.45.suppl_s167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9790256" target="_blank">9790256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8858073">Three common causes of childhood hip pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koop S,
|
||
Quanbeck D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1996 Oct;43(5):1053-66.
|
||
doi: 10.1016/s0031-3955(05)70450-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8858073" target="_blank">8858073</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Legg-Calve-Perthes%20disease%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 (153)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35292045">Legg-Calvé-Perthes disease overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Olivas AO,
|
||
Hernández-Zamora E,
|
||
Reyes-Maldonado E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Mar 15;17(1):125.
|
||
doi: 10.1186/s13023-022-02275-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35292045" target="_blank">35292045</a><a href="/pmc/articles/PMC8922924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155310">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leroux J,
|
||
Abu Amara S,
|
||
Lechevallier J</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S107-S112.
|
||
Epub 2017 Nov 16
|
||
doi: 10.1016/j.otsr.2017.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155310" target="_blank">29155310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21742138">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Price CT,
|
||
Joseph B</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2011 Jul;42(3):xi.
|
||
doi: 10.1016/j.ocl.2011.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21742138" target="_blank">21742138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2045406">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wenger DR,
|
||
Ward WT,
|
||
Herring JA</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1991 Jun;73(5):778-88.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2045406" target="_blank">2045406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6546075">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinstein SL</span><br />
|
||
<span class="medgenPMjournal">Instr Course Lect</span>
|
||
1983;32:272-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6546075" target="_blank">6546075</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Legg-Calve-Perthes%20disease%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 (574)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36882306">Legg-Calve-Perthes' disease: an opportunity to prevent blindness?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang A,
|
||
Nixon T,
|
||
Martin H,
|
||
Richards A,
|
||
McNinch A,
|
||
Alexander P,
|
||
Pujari R,
|
||
Bale P,
|
||
Shenker N,
|
||
Bearcroft P,
|
||
Brown S,
|
||
Blackwell A,
|
||
Poulson A,
|
||
Snead M</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2023 Oct;108(10):789-791.
|
||
Epub 2023 Mar 7
|
||
doi: 10.1136/archdischild-2022-325059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36882306" target="_blank">36882306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155310">Legg-Calvé-Perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leroux J,
|
||
Abu Amara S,
|
||
Lechevallier J</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S107-S112.
|
||
Epub 2017 Nov 16
|
||
doi: 10.1016/j.otsr.2017.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155310" target="_blank">29155310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23389563">Legg-Calvé-Perthes: interobserver and intraobserver reliability of the modified Herring lateral pillar classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajan R,
|
||
Chandrasenan J,
|
||
Price K,
|
||
Konstantoulakis C,
|
||
Metcalfe J,
|
||
Jones S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2013 Mar;33(2):120-3.
|
||
doi: 10.1097/BPO.0b013e318277d047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23389563" target="_blank">23389563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21742150">Treatment of coxa brevis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Standard SC</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2011 Jul;42(3):373-87, vii.
|
||
doi: 10.1016/j.ocl.2011.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21742150" target="_blank">21742150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/918696">Coxa magna.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Powers JA,
|
||
Bach PJ</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1977 Nov;70(11):1297-9.
|
||
doi: 10.1097/00007611-197711000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/918696" target="_blank">918696</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Legg-Calve-Perthes%20disease%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 (420)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32172318">Global differences in the treatment of Legg-Calvé-Perthes disease: a comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braito M,
|
||
Wolf S,
|
||
Dammerer D,
|
||
Giesinger J,
|
||
Wansch J,
|
||
Biedermann R</span><br />
|
||
<span class="medgenPMjournal">Arch Orthop Trauma Surg</span>
|
||
2021 Jan;141(1):1-16.
|
||
Epub 2020 Mar 14
|
||
doi: 10.1007/s00402-020-03392-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32172318" target="_blank">32172318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141957">Influence of passive smoking on the onset of Legg-Calvè-Perthes disease: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao H,
|
||
Huang Z,
|
||
Jia Z,
|
||
Ye H,
|
||
Fu F,
|
||
Song M,
|
||
Zhao Y,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2020 Nov;29(6):556-566.
|
||
doi: 10.1097/BPB.0000000000000725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141957" target="_blank">32141957</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31856037">Arthrodiastasis in the management of Perthes disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim YH,
|
||
Kersh MAAL,
|
||
Fahmy H</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2020 Nov;29(6):550-555.
|
||
doi: 10.1097/BPB.0000000000000690.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31856037" target="_blank">31856037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22223709">Racial and geographic factors in the incidence of Legg-Calvé-Perthes' disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry DC,
|
||
Machin DM,
|
||
Pope D,
|
||
Bruce CE,
|
||
Dangerfield P,
|
||
Platt MJ,
|
||
Hall AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
2012 Feb 1;175(3):159-66.
|
||
Epub 2012 Jan 5
|
||
doi: 10.1093/aje/kwr293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22223709" target="_blank">22223709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20306964">Reliability and reproducibility of classification systems for Legg-Calvé-Perthes disease: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahadeva D,
|
||
Chong M,
|
||
Langton DJ,
|
||
Turner AM</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Belg</span>
|
||
2010 Feb;76(1):48-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20306964" target="_blank">20306964</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Legg-Calve-Perthes%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<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 -->
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||
<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">
|
||
<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=C1442965%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (49)</a></li>
|
||
<li><a href="/gtr/tests?term=C1442965%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1442965%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (52)</a></li>
|
||
<li><a href="/gtr/tests?term=C1442965%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1442965%5bDISCUI%5d" target="_blank">See all (62)</a></total></li>
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||
</ul></div>
|
||
</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=150600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2380" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Legg-Calve-Perthes%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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=(%22legg-calve-perthes%20disease%22%5Btiab%3A~0%5D)%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="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=120140" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1280[geneid]" target="_blank">View COL2A1 variations in ClinVar</a></li><li><a href="/nuccore/193083158" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=150600" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Legg-Calve-Perthes+disease/4151" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/legg_calve_perthes_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Legg-Calve-Perthes%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6874/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
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<h3>Reviews</h3>
|
||
</div>
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<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Legg-Calve-Perthes%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Legg-Calve-Perthes%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
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||
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||
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<div class="col-lg-3 col-12">
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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</div>
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<div class="col-lg-3 col-12 centered-lg">
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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||
</div>
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<div class="col-lg-3 col-12 centered-lg">
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-12 centered-lg">
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<nav class="bottom-links">
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<ul class="mt-3">
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<li>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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||
</li>
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
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||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
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</ul>
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</nav>
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</div>
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</div>
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</div>
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</section>
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