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<meta name="keywords" content="C1839326, abnormal form of the vertebral bodies, abnormal vertebral bodies, abnormally shaped vertebrae, abnormally-shaped vertebrae, anatomical abnormality, finding, 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="Abnormal morphology of vertebral body." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=374194
|
||
ConceptID=C1839326
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal form of the vertebral bodies</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374194</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:">C1839326</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal vertebral bodies; Abnormally-shaped vertebrae</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:0003312">HP:0003312</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<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">Abnormal morphology of vertebral body. [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>
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<div class="portlet mgSection" id="ID_118">
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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>
|
||
<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=C1839326[DISCUI]&test_type=Clinical" ref="ncbi_uid=374194">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=374194" ref="ncbi_uid=374194">V</a></span></span><span class="TLline">Abnormal form of the vertebral bodies</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892426" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral column">Abnormality of the vertebral column</a></span><ul><li><span class="TLline"><a href="/medgen/371742" ref="tree=MeSH" title="MedGen record for Abnormal vertebral morphology">Abnormal vertebral morphology</a></span><ul><li><span class="matched_ds">Abnormal form of the vertebral bodies</span><ul><li><span class="TLline"><a href="/medgen/905295" ref="tree=MeSH" title="MedGen record for Abnormality of spinal facet joint">Abnormality of spinal facet joint</a></span><ul><li><span class="TLline"><a href="/medgen/870231" ref="tree=MeSH" title="MedGen record for Asymmetry of spinal facet joints">Asymmetry of spinal facet joints</a></span></li><li><span class="TLline"><a href="/medgen/895209" ref="tree=MeSH" title="MedGen record for Facet joint arthrosis">Facet joint arthrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870794" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral endplates">Abnormality of the vertebral endplates</a></span><ul><li><span class="TLline"><a href="/medgen/870847" ref="tree=MeSH" title="MedGen record for Hyperconvex vertebral body endplates">Hyperconvex vertebral body endplates</a></span></li><li><span class="TLline"><a href="/medgen/331233" ref="tree=MeSH" title="MedGen record for Irregular vertebral endplates">Irregular vertebral endplates</a></span><ul><li><span class="TLline"><a href="/medgen/374175" ref="tree=MeSH" title="MedGen record for Hump-shaped mound of bone in central and posterior portions of vertebral endplate">Hump-shaped mound of bone in central and posterior portions of vertebral endplate</a></span></li><li><span class="TLline"><a href="/medgen/358354" ref="tree=MeSH" title="MedGen record for Irregular sclerotic endplates">Irregular sclerotic endplates</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1642576" ref="tree=MeSH" title="MedGen record for Sclerotic vertebral endplates">Sclerotic vertebral endplates</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870224" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral spinous processes">Abnormality of the vertebral spinous processes</a></span><ul><li><span class="TLline"><a href="/medgen/870233" ref="tree=MeSH" title="MedGen record for Absent spinous processes of lower thoracic and lumbar vertebrae">Absent spinous processes of lower thoracic and lumbar vertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387741" ref="tree=MeSH" title="MedGen record for Anisospondyly">Anisospondyly</a></span></li><li><span class="TLline"><a href="/medgen/326972" ref="tree=MeSH" title="MedGen record for Anterior concavity of thoracic vertebrae">Anterior concavity of thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/341588" ref="tree=MeSH" title="MedGen record for Beaking of vertebral bodies">Beaking of vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/870846" ref="tree=MeSH" title="MedGen record for Anterior beaking of lower thoracic vertebrae">Anterior beaking of lower thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/867183" ref="tree=MeSH" title="MedGen record for Anterior beaking of lumbar vertebrae">Anterior beaking of lumbar vertebrae</a></span><ul><li><span class="TLline"><a href="/medgen/870702" ref="tree=MeSH" title="MedGen record for Tongue-like lumbar vertebral deformities">Tongue-like lumbar vertebral deformities</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870842" ref="tree=MeSH" title="MedGen record for Anterior beaking of thoracic vertebrae">Anterior beaking of thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/381522" ref="tree=MeSH" title="MedGen record for Beaking of vertebral bodies T12-L3">Beaking of vertebral bodies T12-L3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/383834" ref="tree=MeSH" title="MedGen record for Biconcave vertebral bodies">Biconcave vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/435977" ref="tree=MeSH" title="MedGen record for Anterior scalloping of vertebral bodies">Anterior scalloping of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/318956" ref="tree=MeSH" title="MedGen record for Biconcave flattened vertebrae">Biconcave flattened vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/337993" ref="tree=MeSH" title="MedGen record for Posterior scalloping of vertebral bodies">Posterior scalloping of vertebral bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355775" ref="tree=MeSH" title="MedGen record for Biconvex vertebral bodies">Biconvex vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/442737" ref="tree=MeSH" title="MedGen record for Bifid thoracic vertebrae">Bifid thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/392973" ref="tree=MeSH" title="MedGen record for Cuboid-shaped vertebral bodies">Cuboid-shaped vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/344464" ref="tree=MeSH" title="MedGen record for Cuboid-shaped thoracolumbar vertebral bodies">Cuboid-shaped thoracolumbar vertebral bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/331976" ref="tree=MeSH" title="MedGen record for Disc-like vertebral bodies">Disc-like vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/400628" ref="tree=MeSH" title="MedGen record for Increased vertebral height">Increased vertebral height</a></span><ul><li><span class="TLline"><a href="/medgen/355788" ref="tree=MeSH" title="MedGen record for Increased anterior vertebral height">Increased anterior vertebral height</a></span></li><li><span class="TLline"><a href="/medgen/350137" ref="tree=MeSH" title="MedGen record for Tall lumbar vertebral bodies">Tall lumbar vertebral bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870851" ref="tree=MeSH" title="MedGen record for Irregularity of vertebral bodies">Irregularity of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/344549" ref="tree=MeSH" title="MedGen record for Ovoid vertebral bodies">Ovoid vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/337952" ref="tree=MeSH" title="MedGen record for Anterior rounding of vertebral bodies">Anterior rounding of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/401469" ref="tree=MeSH" title="MedGen record for Ovoid thoracolumbar vertebrae">Ovoid thoracolumbar vertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870845" ref="tree=MeSH" title="MedGen record for Patchy distortion of vertebrae">Patchy distortion of vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/357123" ref="tree=MeSH" title="MedGen record for Pear-shaped vertebrae">Pear-shaped vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/335010" ref="tree=MeSH" title="MedGen record for Platyspondyly">Platyspondyly</a></span><ul><li><span class="TLline"><a href="/medgen/870688" ref="tree=MeSH" title="MedGen record for Flattened moderately deformed vertebrae">Flattened moderately deformed vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/870682" ref="tree=MeSH" title="MedGen record for Lumbar platyspondyly">Lumbar platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/338014" ref="tree=MeSH" title="MedGen record for Severe platyspondyly">Severe platyspondyly</a></span><ul><li><span class="TLline"><a href="/medgen/400688" ref="tree=MeSH" title="MedGen record for Wafer-thin platyspondyly">Wafer-thin platyspondyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376505" ref="tree=MeSH" title="MedGen record for Squared-off platyspondyly">Squared-off platyspondyly</a></span></li><li><span class="TLline"><a href="/medgen/400049" ref="tree=MeSH" title="MedGen record for Thoracic platyspondyly">Thoracic platyspondyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340470" ref="tree=MeSH" title="MedGen record for Sandwich appearance of vertebral bodies">Sandwich appearance of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/870717" ref="tree=MeSH" title="MedGen record for Trapezoidal vertebral body">Trapezoidal vertebral body</a></span></li><li><span class="TLline"><a href="/medgen/322748" ref="tree=MeSH" title="MedGen record for Vertebral arch anomaly">Vertebral arch anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/868150" ref="tree=MeSH" title="MedGen record for Abnormal vertebral pedicle morphology">Abnormal vertebral pedicle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870843" ref="tree=MeSH" title="MedGen record for Enlarged vertebral pedicles">Enlarged vertebral pedicles</a></span></li><li><span class="TLline"><a href="/medgen/868149" ref="tree=MeSH" title="MedGen record for Hypoplastic vertebral pedicle">Hypoplastic vertebral pedicle</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349323" ref="tree=MeSH" title="MedGen record for Butterfly vertebral arch">Butterfly vertebral arch</a></span></li><li><span class="TLline"><a href="/medgen/395267" ref="tree=MeSH" title="MedGen record for Cleft vertebral arch">Cleft vertebral arch</a></span></li><li><span class="TLline"><a href="/medgen/318662" ref="tree=MeSH" title="MedGen record for Narrow vertebral interpedicular distance">Narrow vertebral interpedicular distance</a></span><ul><li><span class="TLline"><a href="/medgen/350247" ref="tree=MeSH" title="MedGen record for Caudal interpedicular narrowing">Caudal interpedicular narrowing</a></span></li><li><span class="TLline"><a href="/medgen/343232" ref="tree=MeSH" title="MedGen record for Lower thoracic interpediculate narrowness">Lower thoracic interpediculate narrowness</a></span></li><li><span class="TLline"><a href="/medgen/350409" ref="tree=MeSH" title="MedGen record for Thoracolumbar interpediculate narrowness">Thoracolumbar interpediculate narrowness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868390" ref="tree=MeSH" title="MedGen record for Widened interpedicular distance">Widened interpedicular distance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344586" ref="tree=MeSH" title="MedGen record for Vertebral clefting">Vertebral clefting</a></span><ul><li><span class="TLline"><a href="/medgen/337861" ref="tree=MeSH" title="MedGen record for Anterior clefting of vertebral bodies">Anterior clefting of vertebral bodies</a></span></li><li><span class="TLline"><a href="/medgen/1744309" ref="tree=MeSH" title="MedGen record for Butterfly vertebrae">Butterfly vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/320483" ref="tree=MeSH" title="MedGen record for Coronal cleft vertebrae">Coronal cleft vertebrae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120495" ref="tree=MeSH" title="MedGen record for Vertebral wedging">Vertebral wedging</a></span><ul><li><span class="TLline"><a href="/medgen/870239" ref="tree=MeSH" title="MedGen record for Anterior wedging of L1">Anterior wedging of L1</a></span></li><li><span class="TLline"><a href="/medgen/868711" ref="tree=MeSH" title="MedGen record for Anterior wedging of L2">Anterior wedging of L2</a></span></li><li><span class="TLline"><a href="/medgen/867290" ref="tree=MeSH" title="MedGen record for Anterior wedging of T11">Anterior wedging of T11</a></span></li><li><span class="TLline"><a href="/medgen/866758" ref="tree=MeSH" title="MedGen record for Anterior wedging of T12">Anterior wedging of T12</a></span></li><li><span class="TLline"><a href="/medgen/370074" ref="tree=MeSH" title="MedGen record for Posterior wedging of vertebral bodies">Posterior wedging of vertebral bodies</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_326461"><div><strong>SCARF syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326461</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.">C1839321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326461">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SCARF syndrome</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/28516189">Improving the rigour of VACTERL screening for neonates with anorectal malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">England RJ,
|
||
Eradi B,
|
||
Murthi GV,
|
||
Sutcliffe J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Jul;33(7):747-754.
|
||
Epub 2017 May 17
|
||
doi: 10.1007/s00383-017-4094-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28516189" target="_blank">28516189</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28186390">Pain management in the Ehlers-Danlos syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chopra P,
|
||
Tinkle B,
|
||
Hamonet C,
|
||
Brock I,
|
||
Gompel A,
|
||
Bulbena A,
|
||
Francomano C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Mar;175(1):212-219.
|
||
Epub 2017 Feb 10
|
||
doi: 10.1002/ajmg.c.31554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28186390" target="_blank">28186390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6654979">Preoperative diagnosis and management of the hypoplastic vessel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ameli FM,
|
||
Hoy F</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Surg (Torino)</span>
|
||
1983 Nov-Dec;24(6):654-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6654979" target="_blank">6654979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20form%20of%20the%20vertebral%20bodies)%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 (3)</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/38750326">Clinical and radiological evaluation of caudal regression syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krishnan V,
|
||
Jaganathan S,
|
||
Jayappa S,
|
||
Glasier C,
|
||
Choudhary A,
|
||
Ramakrishnaiah R,
|
||
Murphy J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2024 Aug;54(9):1451-1461.
|
||
Epub 2024 May 16
|
||
doi: 10.1007/s00247-024-05945-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38750326" target="_blank">38750326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37210636">Congenital and acquired anomalies of the basilar artery: A pictorial essay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catalano M,
|
||
Crimi L,
|
||
Belfiore G,
|
||
Grippaldi D,
|
||
David E,
|
||
Spatola C,
|
||
Cristaudo C,
|
||
Foti PV,
|
||
Palmucci S,
|
||
Basile A</span><br />
|
||
<span class="medgenPMjournal">Neuroradiol J</span>
|
||
2024 Dec;37(6):661-677.
|
||
Epub 2023 May 21
|
||
doi: 10.1177/19714009231177412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210636" target="_blank">37210636</a><a href="/pmc/articles/PMC11531057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35088712">Paraxial mesoderm organoids model development of human somites.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Budjan C,
|
||
Liu S,
|
||
Ranga A,
|
||
Gayen S,
|
||
Pourquié O,
|
||
Hormoz S</span><br />
|
||
<span class="medgenPMjournal">Elife</span>
|
||
2022 Jan 28;11
|
||
doi: 10.7554/eLife.68925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35088712" target="_blank">35088712</a><a href="/pmc/articles/PMC8906808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28516189">Improving the rigour of VACTERL screening for neonates with anorectal malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">England RJ,
|
||
Eradi B,
|
||
Murthi GV,
|
||
Sutcliffe J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Jul;33(7):747-754.
|
||
Epub 2017 May 17
|
||
doi: 10.1007/s00383-017-4094-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28516189" target="_blank">28516189</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16595436">Histology and pathology of the human intervertebral disc.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts S,
|
||
Evans H,
|
||
Trivedi J,
|
||
Menage J</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2006 Apr;88 Suppl 2:10-4.
|
||
doi: 10.2106/JBJS.F.00019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16595436" target="_blank">16595436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20form%20of%20the%20vertebral%20bodies%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38831290">Delayed diagnosis of mild mucopolysaccharidosis type IVA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yi M,
|
||
Shen P,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Jun 3;17(1):151.
|
||
doi: 10.1186/s12920-024-01910-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38831290" target="_blank">38831290</a><a href="/pmc/articles/PMC11145893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38750326">Clinical and radiological evaluation of caudal regression syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krishnan V,
|
||
Jaganathan S,
|
||
Jayappa S,
|
||
Glasier C,
|
||
Choudhary A,
|
||
Ramakrishnaiah R,
|
||
Murphy J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2024 Aug;54(9):1451-1461.
|
||
Epub 2024 May 16
|
||
doi: 10.1007/s00247-024-05945-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38750326" target="_blank">38750326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37393895">Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaczyńska R,
|
||
Bekiesinska-Figatowska M,
|
||
Sobieraj P,
|
||
Issat T,
|
||
Gos M,
|
||
Obersztyn E</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2023;50(4):269-275.
|
||
Epub 2023 Jun 30
|
||
doi: 10.1159/000531677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37393895" target="_blank">37393895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31704340">The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28516189">Improving the rigour of VACTERL screening for neonates with anorectal malformations.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38750326" target="_blank">38750326</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36302448">Congenital Cervical Spinal Deformities.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16595436">Histology and pathology of the human intervertebral disc.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20form%20of%20the%20vertebral%20bodies%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33202217">Retinoid signaling in skeletal development: Scoping the system for predictive toxicology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Knudsen TB,
|
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Pierro JD,
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Baker NC</span><br />
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<span class="medgenPMjournal">Reprod Toxicol</span>
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2021 Jan;99:109-130.
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Epub 2020 Nov 14
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<span class="bold">PMID: </span><a href="/pubmed/33202217" target="_blank">33202217</a><a href="/pmc/articles/PMC11451096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31704340">The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
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||
Regier DS,
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||
Yoon R,
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||
Pan KS,
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Yang S,
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Spranger JW,
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|
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|
||
Epub 2019 Nov 6
|
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doi: 10.1016/j.bone.2019.115142.
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||
<span class="bold">PMID: </span><a href="/pubmed/31704340" target="_blank">31704340</a><a href="/pmc/articles/PMC6937522" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24954432">Micro-computed tomography assessment of vertebral column defects in retinoic acid-induced rat model of myelomeningocele.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mortier GR,
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Lachman RS,
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<span class="bold">PMID: </span><a href="/pubmed/8834041" target="_blank">8834041</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20form%20of%20the%20vertebral%20bodies%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 (24)</a></div></div>
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