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<meta name="keywords" content="C3665488, acan, disease or syndrome, familial osteochondritis dissecans, od, osteochondritis dissecans and short stature, osteochondritis dissecans, short stature, and early-onset osteoarthritis, short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans, short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, ssoaod, 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="Patients with short sature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis, as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (summary by Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (Concept Id: C3665488)
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<!--
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||
UID=777109
|
||
ConceptID=C3665488
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans<span class="h1sub">(SSOAOD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777109</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:">C3665488</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>SSOAOD</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial osteochondritis dissecans (715899006); Osteochondritis dissecans and short stature (715899006)</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="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></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="ACAN - ID: 176 - NCBI Gene" href="/gene/176" class="medgenPMinfo">ACAN</a> (15q26.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100462" target="_blank">MONDO:0100462</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/165800" target="_blank">165800</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=251262">ORPHA251262</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">Patients with short sature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis, as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (summary by Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. [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_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 MedlinePlus Genetics</strong><br />Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.<br /><br />A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans">https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans</a></div></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_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_98469"><div><strong>Short thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98469</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.">C0431890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia (congenital reduction in size) of the thumb.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98469">Feature record</a> | <a href="/medgen?term=%22Short%20thumb%22%5BClinical%20Features%5D%20OR%2098469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_401165"><div><strong>Broad hallux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401165</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.">C1867131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visible increase in width of the hallux without an increase in the dorso-ventral dimension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401165">Feature record</a> | <a href="/medgen?term=%22Broad%20hallux%22%5BClinical%20Features%5D%20OR%20401165%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_66667"><div><strong>Waddling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66667</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.">C0231712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66667">Feature record</a> | <a href="/medgen?term=%22Waddling%20gait%22%5BClinical%20Features%5D%20OR%2066667%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14530"><div><strong>Osteoarthritis, hip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14530</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.">C0029410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoarthritis of the hip joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14530">Feature record</a> | <a href="/medgen?term=%22Osteoarthritis%2C%20hip%22%5BClinical%20Features%5D%20OR%2014530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10494"><div><strong>Osteochondritis dissecans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10494</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.">C0029421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10494">Feature record</a> | <a href="/medgen?term=%22Osteochondritis%20dissecans%22%5BClinical%20Features%5D%20OR%2010494%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154262"><div><strong>Accelerated skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154262</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.">C0545053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased rate of skeletal maturation. Accelerated 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/154262">Feature record</a> | <a href="/medgen?term=%22Accelerated%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20154262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_263149"><div><strong>Lumbar hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>263149</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.">C1184923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accentuation of the inward curvature of the spine in the lumbar region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/263149">Feature record</a> | <a href="/medgen?term=%22Lumbar%20hyperlordosis%22%5BClinical%20Features%5D%20OR%20263149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_257035"><div><strong>Exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>257035</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.">C1442903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/257035">Feature record</a> | <a href="/medgen?term=%22Exostoses%22%5BClinical%20Features%5D%20OR%20257035%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_371977"><div><strong>Premature osteoarthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371977</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.">C1835121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371977">Feature record</a> | <a href="/medgen?term=%22Premature%20osteoarthritis%22%5BClinical%20Features%5D%20OR%20371977%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li></ul></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad hallux</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short thumb</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_154262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Accelerated skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_257035" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exostoses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_263149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lumbar hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoarthritis, hip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10494" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteochondritis dissecans</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature osteoarthritis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waddling gait</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3665488[DISCUI]&test_type=Clinical" ref="ncbi_uid=777109">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777109" target="_blank" href="/omim/165800">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=777109" ref="ncbi_uid=777109">V</a></span></span><span class="TLline">Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/962544" ref="tree=MeSH" title="MedGen record for Aggrecan-related bone disorder">Aggrecan-related bone disorder</a></span><ul><li><span class="matched_ds">Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans</span></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/32413843">Aggrecanopathies highlight the need for genetic evaluation of ISS children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nilsson O</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2020 Aug;183(2):C9-C10.
|
||
doi: 10.1530/EJE-20-0420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32413843" target="_blank">32413843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (1)</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/37127418">Osteochondritis dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashim SS,
|
||
Morgan C,
|
||
Sarraf KM</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2023 Apr 2;84(4):1-7.
|
||
doi: 10.12968/hmed.2023.0044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37127418" target="_blank">37127418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29276039">Diagnosis and treatment of osteochondritis dissecans of the humeral capitellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maruyama M,
|
||
Takahara M,
|
||
Satake H</span><br />
|
||
<span class="medgenPMjournal">J Orthop Sci</span>
|
||
2018 Mar;23(2):213-219.
|
||
Epub 2017 Dec 22
|
||
doi: 10.1016/j.jos.2017.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29276039" target="_blank">29276039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25115156">Management of osteochondritis dissecans of the knee.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson SM,
|
||
Jones M,
|
||
Lavelle JR,
|
||
Williams A</span><br />
|
||
<span class="medgenPMjournal">J Sport Rehabil</span>
|
||
2014 Aug;23(3):216-22.
|
||
doi: 10.1123/JSR.2013-0047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25115156" target="_blank">25115156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18605393">Overuse injuries in adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pommering TL,
|
||
Kluchurosky L</span><br />
|
||
<span class="medgenPMjournal">Adolesc Med State Art Rev</span>
|
||
2007 May;18(1):95-120, ix.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18605393" target="_blank">18605393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9642713">Bilateral osteochondritis dissecans of the knee and elbow.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bednarz PA,
|
||
Paletta GA Jr,
|
||
Stanitski CL</span><br />
|
||
<span class="medgenPMjournal">Orthopedics</span>
|
||
1998 Jun;21(6):716-9.
|
||
doi: 10.3928/0147-7447-19980601-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9642713" target="_blank">9642713</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (947)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34109940">Osteochondritis Dissecans: Current Understanding of Epidemiology, Etiology, Management, and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chau MM,
|
||
Klimstra MA,
|
||
Wise KL,
|
||
Ellermann JM,
|
||
Tóth F,
|
||
Carlson CS,
|
||
Nelson BJ,
|
||
Tompkins MA</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2021 Jun 16;103(12):1132-1151.
|
||
doi: 10.2106/JBJS.20.01399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34109940" target="_blank">34109940</a><a href="/pmc/articles/PMC8272630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30118392">Osteochondral Lesions of the Knee: Differentiating the Most Common Entities at MRI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorbachova T,
|
||
Melenevsky Y,
|
||
Cohen M,
|
||
Cerniglia BW</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2018 Sep-Oct;38(5):1478-1495.
|
||
Epub 2018 Aug 17
|
||
doi: 10.1148/rg.2018180044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30118392" target="_blank">30118392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29197636">Osteochondritis dissecans of the knee.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accadbled F,
|
||
Vial J,
|
||
Sales de Gauzy J</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S97-S105.
|
||
Epub 2017 Nov 29
|
||
doi: 10.1016/j.otsr.2017.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29197636" target="_blank">29197636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12974484">Juvenile osteochondritis dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wall E,
|
||
Von Stein D</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2003 Jul;34(3):341-53.
|
||
doi: 10.1016/s0030-5898(03)00038-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12974484" target="_blank">12974484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8613454">Osteochondritis dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schenck RC Jr,
|
||
Goodnight JM</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1996 Mar;78(3):439-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8613454" target="_blank">8613454</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (896)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35803522">Preiser's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sokolow C,
|
||
Bourcheix L</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2022 Oct;41(5):533-541.
|
||
Epub 2022 Jul 5
|
||
doi: 10.1016/j.hansur.2022.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35803522" target="_blank">35803522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33423507">Osteochondral Lesions of the Talus: A Review on Talus Osteochondral Injuries, Including Osteochondritis Dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruns J,
|
||
Habermann C,
|
||
Werner M</span><br />
|
||
<span class="medgenPMjournal">Cartilage</span>
|
||
2021 Dec;13(1_suppl):1380S-1401S.
|
||
Epub 2021 Jan 9
|
||
doi: 10.1177/1947603520985182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33423507" target="_blank">33423507</a><a href="/pmc/articles/PMC8808845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29525032">Pediatric Sports Medicine Injuries: Common Problems and Solutions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huleatt JB,
|
||
Nissen CW,
|
||
Milewski MD</span><br />
|
||
<span class="medgenPMjournal">Clin Sports Med</span>
|
||
2018 Apr;37(2):351-362.
|
||
doi: 10.1016/j.csm.2017.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29525032" target="_blank">29525032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28567213">Rotational Acetabular Osteotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yasunaga Y,
|
||
Fujii J,
|
||
Tanaka R,
|
||
Yasuhara S,
|
||
Yamasaki T,
|
||
Adachi N,
|
||
Ochi M</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Surg</span>
|
||
2017 Jun;9(2):129-135.
|
||
Epub 2017 May 8
|
||
doi: 10.4055/cios.2017.9.2.129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28567213" target="_blank">28567213</a><a href="/pmc/articles/PMC5435649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25266991">The role of nitisinone in tyrosine pathway disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lock E,
|
||
Ranganath LR,
|
||
Timmis O</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2014 Nov;16(11):457.
|
||
doi: 10.1007/s11926-014-0457-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25266991" target="_blank">25266991</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (297)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38429104">Global burden of early-onset osteoarthritis, 1990-2019: results from the Global Burden of Disease Study 2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weng Q,
|
||
Chen Q,
|
||
Jiang T,
|
||
Zhang Y,
|
||
Zhang W,
|
||
Doherty M,
|
||
Xie J,
|
||
Liu K,
|
||
Li J,
|
||
Yang T,
|
||
Wei J,
|
||
Lei G,
|
||
Zeng C</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2024 Jun 12;83(7):915-925.
|
||
doi: 10.1136/ard-2023-225324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38429104" target="_blank">38429104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34109940">Osteochondritis Dissecans: Current Understanding of Epidemiology, Etiology, Management, and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chau MM,
|
||
Klimstra MA,
|
||
Wise KL,
|
||
Ellermann JM,
|
||
Tóth F,
|
||
Carlson CS,
|
||
Nelson BJ,
|
||
Tompkins MA</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2021 Jun 16;103(12):1132-1151.
|
||
doi: 10.2106/JBJS.20.01399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34109940" target="_blank">34109940</a><a href="/pmc/articles/PMC8272630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31739884">Osteochondral Reconstruction of the Capitellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris BJ,
|
||
Kiser CJ,
|
||
Elkousy HA,
|
||
Bennett JM,
|
||
Mehlhoff TL</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2020 Jan;51(1):97-108.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1016/j.ocl.2019.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31739884" target="_blank">31739884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12974484">Juvenile osteochondritis dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wall E,
|
||
Von Stein D</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2003 Jul;34(3):341-53.
|
||
doi: 10.1016/s0030-5898(03)00038-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12974484" target="_blank">12974484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11513159">Osteochondral injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanders RK,
|
||
Crim JR</span><br />
|
||
<span class="medgenPMjournal">Semin Ultrasound CT MR</span>
|
||
2001 Aug;22(4):352-70.
|
||
doi: 10.1016/s0887-2171(01)90026-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11513159" target="_blank">11513159</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (595)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35533061">The Influence of Athletes' Age in the Onset of Osteoarthritis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Migliorini F,
|
||
Vecchio G,
|
||
Pintore A,
|
||
Oliva F,
|
||
Maffulli N</span><br />
|
||
<span class="medgenPMjournal">Sports Med Arthrosc Rev</span>
|
||
2022 Jun 1;30(2):97-101.
|
||
Epub 2022 May 4
|
||
doi: 10.1097/JSA.0000000000000345.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35533061" target="_blank">35533061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33886390">Treatment Strategies and Outcomes for Osteochondritis Dissecans of the Capitellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sayani J,
|
||
Plotkin T,
|
||
Burchette DT,
|
||
Phadnis J</span><br />
|
||
<span class="medgenPMjournal">Am J Sports Med</span>
|
||
2021 Dec;49(14):4018-4029.
|
||
Epub 2021 Apr 22
|
||
doi: 10.1177/03635465211000763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33886390" target="_blank">33886390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24698040">Imaging of osteochondritis dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zbojniewicz AM,
|
||
Laor T</span><br />
|
||
<span class="medgenPMjournal">Clin Sports Med</span>
|
||
2014 Apr;33(2):221-50.
|
||
Epub 2014 Feb 16
|
||
doi: 10.1016/j.csm.2013.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24698040" target="_blank">24698040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23169101">Prognostic biomarkers in osteoarthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Attur M,
|
||
Krasnokutsky-Samuels S,
|
||
Samuels J,
|
||
Abramson SB</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
2013 Jan;25(1):136-44.
|
||
doi: 10.1097/BOR.0b013e32835a9381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23169101" target="_blank">23169101</a><a href="/pmc/articles/PMC3694600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12119868">Lower extremity injuries in youth sports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson SJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2002 Jun;49(3):627-41.
|
||
doi: 10.1016/s0031-3955(02)00010-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12119868" target="_blank">12119868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (709)</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/35611658">A systematic review of cartilage procedures for unstable osteochondritis dissecans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthews JR,
|
||
Sonnier JH,
|
||
Paul RW,
|
||
Avendano JP,
|
||
Saucedo ST,
|
||
Freedman KB,
|
||
Tjoumakaris FP</span><br />
|
||
<span class="medgenPMjournal">Phys Sportsmed</span>
|
||
2023 Dec;51(6):497-505.
|
||
Epub 2022 May 31
|
||
doi: 10.1080/00913847.2022.2082262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35611658" target="_blank">35611658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33886390">Treatment Strategies and Outcomes for Osteochondritis Dissecans of the Capitellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sayani J,
|
||
Plotkin T,
|
||
Burchette DT,
|
||
Phadnis J</span><br />
|
||
<span class="medgenPMjournal">Am J Sports Med</span>
|
||
2021 Dec;49(14):4018-4029.
|
||
Epub 2021 Apr 22
|
||
doi: 10.1177/03635465211000763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33886390" target="_blank">33886390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33247378">Neuromuscular Function of the Knee Joint Following Knee Injuries: Does It Ever Get Back to Normal? A Systematic Review with Meta-Analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tayfur B,
|
||
Charuphongsa C,
|
||
Morrissey D,
|
||
Miller SC</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2021 Feb;51(2):321-338.
|
||
doi: 10.1007/s40279-020-01386-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33247378" target="_blank">33247378</a><a href="/pmc/articles/PMC7846527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29998741">Osteochondritis Dissecans of the Knee: Etiology and Pathogenetic Mechanisms. A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andriolo L,
|
||
Crawford DC,
|
||
Reale D,
|
||
Zaffagnini S,
|
||
Candrian C,
|
||
Cavicchioli A,
|
||
Filardo G</span><br />
|
||
<span class="medgenPMjournal">Cartilage</span>
|
||
2020 Jul;11(3):273-290.
|
||
Epub 2018 Jul 12
|
||
doi: 10.1177/1947603518786557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29998741" target="_blank">29998741</a><a href="/pmc/articles/PMC7298596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19409312">Cell-based therapy in articular cartilage lesions of the knee.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura N,
|
||
Miyama T,
|
||
Engebretsen L,
|
||
Yoshikawa H,
|
||
Shino K</span><br />
|
||
<span class="medgenPMjournal">Arthroscopy</span>
|
||
2009 May;25(5):531-52.
|
||
doi: 10.1016/j.arthro.2009.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19409312" target="_blank">19409312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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 (49)</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 -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<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=C3665488%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3665488%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3665488%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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=165800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=251262" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Short%20stature%20and%20advanced%20bone%20age,%20with%20or%20without%20early-onset%20osteoarthritis%20and/or%20osteochondritis%20dissecans" 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=(%22short%20stature%20and%20advanced%20bone%20age%2C%20with%20or%20without%20early-onset%20osteoarthritis%20and%2For%20osteochondritis%20dissecans%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>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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=155760" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=176[geneid]" target="_blank">View ACAN variations in ClinVar</a></li><li><a href="/nuccore/256985171" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=165800" 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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Short%20stature%20and%20advanced%20bone%20age,%20with%20or%20without%20early-onset%20osteoarthritis%20and/or%20osteochondritis%20dissecans" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4133/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Short%20stature%20and%20advanced%20bone%20age,%20with%20or%20without%20early-onset%20osteoarthritis%20and/or%20osteochondritis%20dissecans" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Short%20stature%20and%20advanced%20bone%20age,%20with%20or%20without%20early-onset%20osteoarthritis%20and/or%20osteochondritis%20dissecans%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 -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=777109" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=777109" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3665488[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3665488[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=777109" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=777109" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=777109" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=777109" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=777109" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=777109" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
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||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</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>
|
||
</ul>
|
||
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|
||
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|
||
</div>
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||
</div>
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||
</section>
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