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<meta name="keywords" content="C0265290, congenital abnormality, metaphyseal chondrodysplasia, metaphyseal chondrodysplasia (disease), metaphyseal dysostosis, 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="An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=120528
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ConceptID=C0265290
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Metaphyseal chondrodysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120528</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:">C0265290</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Metaphyseal chondrodysplasia (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Metaphyseal chondrodysplasia (28681006); Metaphyseal dysostosis (28681006)</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:0005871">HP:0005871</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000138" target="_blank">MONDO:0000138</a></td></tr>
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<div class="portlet_content ln">An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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=C0265290[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=120528">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=120528" ref="ncbi_uid=120528">V</a></span></span><span class="TLline">Metaphyseal chondrodysplasia</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/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/98053" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia">Skeletal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1677924" ref="tree=MeSH" title="MedGen record for Metaphyseal dysplasia">Metaphyseal dysplasia</a></span><ul><li><span class="matched_ds">Metaphyseal chondrodysplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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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_78550"><div><strong>Metaphyseal chondrodysplasia, Schmid type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78550</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.">C0265289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 standard deviations below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78550">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120529"><div><strong>Metaphyseal chondrodysplasia, Jansen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120529</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.">C0265295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140928"><div><strong>Metaphyseal chondrodysplasia, Spahr type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140928</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.">C0432225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140928">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381579"><div><strong>Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381579</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.">C1855188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa with or without skeletal anomalies (RPSKA) is characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologic defects. Night blindness occurs around 10 years of age, followed by restriction of visual fields. Brachydactyly affects primarily the distal phalanges. Craniofacial abnormalities include frontal bossing, downslanting palpebral fissures, large columella, hypoplastic nares, micrognathia, and large low-set ears (summary by Xu et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381579">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343289"><div><strong>Metaphyseal chondrodysplasia, Pena type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343289</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.">C1855195</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/343289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347809"><div><strong>Chondrodysplasia calcificans Metaphysealis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347809</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.">C1859147</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/347809">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348040"><div><strong>Short-limb skeletal dysplasia with severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348040</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.">C1860168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640046"><div><strong>Shwachman-Diamond syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640046</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.">C4692625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640046">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia calcificans Metaphysealis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Jansen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Pena type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Schmid type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Spahr type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-limb skeletal dysplasia with severe combined immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shwachman-Diamond syndrome 1</a></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/30027601">Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Kaissi A,
|
||
Ghachem MB,
|
||
Nabil NM,
|
||
Kenis V,
|
||
Melchenko E,
|
||
Morenko E,
|
||
Grill F,
|
||
Ganger R,
|
||
Kircher SG</span><br />
|
||
<span class="medgenPMjournal">Orthop Surg</span>
|
||
2018 Aug;10(3):241-246.
|
||
Epub 2018 Jul 19
|
||
doi: 10.1111/os.12382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30027601" target="_blank">30027601</a><a href="/pmc/articles/PMC6594483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9708440">Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milunsky J,
|
||
Maher T,
|
||
Lebo R,
|
||
Milunsky A</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
1998 May-Jun;13(3):167-8.
|
||
doi: 10.1159/000020831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9708440" target="_blank">9708440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10829859">Metaphyseal chondrodysplasia: a differential diagnosis of rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vohra P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1995 Jan-Feb;62(1):131-2.
|
||
doi: 10.1007/BF02752201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10829859" target="_blank">10829859</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22metaphyseal%20chondrodysplasia%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 (4)</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/31413057">Metaphyseal dysplasia, Spahr type: a mimicker of rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balasubramaniyan M,
|
||
Kaur A,
|
||
Sinha A,
|
||
Gopinathan NR</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Aug 13;12(8)
|
||
doi: 10.1136/bcr-2019-230257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31413057" target="_blank">31413057</a><a href="/pmc/articles/PMC6700560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30027601">Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Kaissi A,
|
||
Ghachem MB,
|
||
Nabil NM,
|
||
Kenis V,
|
||
Melchenko E,
|
||
Morenko E,
|
||
Grill F,
|
||
Ganger R,
|
||
Kircher SG</span><br />
|
||
<span class="medgenPMjournal">Orthop Surg</span>
|
||
2018 Aug;10(3):241-246.
|
||
Epub 2018 Jul 19
|
||
doi: 10.1111/os.12382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30027601" target="_blank">30027601</a><a href="/pmc/articles/PMC6594483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16838329">RMRP mutations in cartilage-hair hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hermanns P,
|
||
Tran A,
|
||
Munivez E,
|
||
Carter S,
|
||
Zabel B,
|
||
Lee B,
|
||
Leroy JG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2006 Oct 1;140(19):2121-30.
|
||
doi: 10.1002/ajmg.a.31331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16838329" target="_blank">16838329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7252997">Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips CI,
|
||
Wynne-Davies R,
|
||
Stokoe NL,
|
||
Newton M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1981 Feb;18(1):46-9.
|
||
doi: 10.1136/jmg.18.1.46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7252997" target="_blank">7252997</a><a href="/pmc/articles/PMC1048657" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/335375">Metaphyseal chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger JW</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1977 Aug;53(622):480-7.
|
||
doi: 10.1136/pgmj.53.622.480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/335375" target="_blank">335375</a><a href="/pmc/articles/PMC2496735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metaphyseal%20chondrodysplasia%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 (36)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34774247">Rare Causes of Hypercalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saponaro F</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2021 Dec;50(4):769-779.
|
||
doi: 10.1016/j.ecl.2021.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34774247" target="_blank">34774247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26138838">Approach to the Child with Hypercalcaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davies JH</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2015;28:101-118.
|
||
Epub 2015 Jun 12
|
||
doi: 10.1159/000380998.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26138838" target="_blank">26138838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10781242">Jansen's metaphyseal chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sood A,
|
||
Sama D,
|
||
Sharma R,
|
||
Rastogi S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2000 Apr;37(4):435-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10781242" target="_blank">10781242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3281118">Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lachman RS,
|
||
Rimoin DL,
|
||
Spranger J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1988;18(2):93-102.
|
||
doi: 10.1007/BF02387549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3281118" target="_blank">3281118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/335375">Metaphyseal chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spranger JW</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1977 Aug;53(622):480-7.
|
||
doi: 10.1136/pgmj.53.622.480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/335375" target="_blank">335375</a><a href="/pmc/articles/PMC2496735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metaphyseal%20chondrodysplasia%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 (55)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35701367">The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 (+/p.G610C) ) mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blank M,
|
||
McGregor NE,
|
||
Rowley L,
|
||
Kung LHW,
|
||
Crimeen-Irwin B,
|
||
Poulton IJ,
|
||
Walker EC,
|
||
Gooi JH,
|
||
Lamandé SR,
|
||
Sims NA,
|
||
Bateman JF</span><br />
|
||
<span class="medgenPMjournal">J Cell Mol Med</span>
|
||
2022 Jul;26(14):4021-4031.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1111/jcmm.17437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35701367" target="_blank">35701367</a><a href="/pmc/articles/PMC9279589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32214240">Coronavirus shuts down trials of drugs for multiple other diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ledford H</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Apr;580(7801):15-16.
|
||
doi: 10.1038/d41586-020-00889-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32214240" target="_blank">32214240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30912609">Gene cloning to clinical trials-the trials and tribulations of a life with collagen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boot-Handford RP</span><br />
|
||
<span class="medgenPMjournal">Int J Exp Pathol</span>
|
||
2019 Feb;100(1):4-11.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1111/iep.12311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30912609" target="_blank">30912609</a><a href="/pmc/articles/PMC6463393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26138838">Approach to the Child with Hypercalcaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davies JH</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2015;28:101-118.
|
||
Epub 2015 Jun 12
|
||
doi: 10.1159/000380998.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26138838" target="_blank">26138838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3813148">Tracheobronchomalacia in an adult with metaphyseal chondrodysplasia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Takkunen O,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metaphyseal%20chondrodysplasia%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31977144">Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gabbett MT,
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<div class="nl"><a target="_blank" href="/pubmed/10781242">Jansen's metaphyseal chondrodysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sood A,
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<div class="nl"><a target="_blank" href="/pubmed/10382218">Metaphyseal anadysplasia in two sisters.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/7252997">Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Phillips CI,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metaphyseal%20chondrodysplasia%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36400164">Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tüysüz B,
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Kasap B,
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Sarıtaş M,
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Alkaya DU,
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Bozlak S,
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Kıykım A,
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Durmaz A,
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Yıldırım T,
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Akpınar E,
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Vural M</span><br />
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<span class="medgenPMjournal">Bone</span>
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2023 Feb;167:116614.
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Epub 2022 Nov 15
|
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doi: 10.1016/j.bone.2022.116614.
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||
<span class="bold">PMID: </span><a href="/pubmed/36400164" target="_blank">36400164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33764685">Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu H,
|
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Wang S,
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||
Li G,
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Yao Y,
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Wang N,
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Sun X,
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Fang L,
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Jiang X,
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Zhao J,
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||
Wang Y,
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||
Xu C</span><br />
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<span class="medgenPMjournal">Mol Genet Genomic Med</span>
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2021 May;9(5):e1668.
|
||
Epub 2021 Mar 25
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||
doi: 10.1002/mgg3.1668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33764685" target="_blank">33764685</a><a href="/pmc/articles/PMC8172203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30232230">The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Csukasi F,
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Duran I,
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Barad M,
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Barta T,
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Gudernova I,
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Trantirek L,
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Martin JH,
|
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Kuo CY,
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Woods J,
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Lee H,
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Cohn DH,
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Krejci P,
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Krakow D</span><br />
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<span class="medgenPMjournal">Sci Transl Med</span>
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2018 Sep 19;10(459)
|
||
doi: 10.1126/scitranslmed.aat9356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30232230" target="_blank">30232230</a><a href="/pmc/articles/PMC7529349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7701349">A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schipani E,
|
||
Kruse K,
|
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Jüppner H</span><br />
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1995 Apr 7;268(5207):98-100.
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|
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<span class="bold">PMID: </span><a href="/pubmed/7701349" target="_blank">7701349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8220429">A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warman ML,
|
||
Abbott M,
|
||
Apte SS,
|
||
Hefferon T,
|
||
McIntosh I,
|
||
Cohn DH,
|
||
Hecht JT,
|
||
Olsen BR,
|
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|
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1993 Sep;5(1):79-82.
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/8220429" target="_blank">8220429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metaphyseal%20chondrodysplasia%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 (33)</a></div></div>
|
||
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|
||
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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