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<meta name="keywords" content="C5781610, cfm2, congenital abnormality, craniofacial microsomia 2, foxi3, 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="Most patients with craniofacial microsomia-2 (CFM2) exhibit isolated unilateral or bilateral grade III microtia, with or without aural atresia, although some patients exhibit only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed (Quiat et al., 2023; Mao et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of craniofacial microsomia, see CFM1 (164210)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1830923
|
||
ConceptID=C5781610
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Craniofacial microsomia 2<span class="h1sub">(CFM2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830923</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.">C5781610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CFM2</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="FOXI3 - ID: 344167 - NCBI Gene" href="/gene/344167" class="medgenPMinfo">FOXI3</a> (2p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0958194" target="_blank">MONDO:0958194</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620444" target="_blank">620444</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>
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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">Most patients with craniofacial microsomia-2 (CFM2) exhibit isolated unilateral or bilateral grade III microtia, with or without aural atresia, although some patients exhibit only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed (Quiat et al., 2023; Mao et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of craniofacial microsomia, see CFM1 (164210). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</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.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892536"><div><strong>Microtia, second degree</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892536</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.">C4020797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892536">Feature record</a> | <a href="/medgen?term=%22Microtia%2C%20second%20degree%22%5BClinical%20Features%5D%20OR%20892536%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866820"><div><strong>Microtia, third degree</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866820</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.">C4021174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of some auricular structures, but none of these structures conform to recognized ear components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866820">Feature record</a> | <a href="/medgen?term=%22Microtia%2C%20third%20degree%22%5BClinical%20Features%5D%20OR%20866820%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866821"><div><strong>Microtia, first degree</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866821</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.">C4021175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866821">Feature record</a> | <a href="/medgen?term=%22Microtia%2C%20first%20degree%22%5BClinical%20Features%5D%20OR%20866821%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815047"><div><strong>Dermal sinus tract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815047</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.">C5706141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815047">Feature record</a> | <a href="/medgen?term=%22Dermal%20sinus%20tract%22%5BClinical%20Features%5D%20OR%201815047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1645448"><div><strong>Submucous cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645448</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.">C4551487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cleft of the muscular portion of the palate that is covered by mucous membrane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645448">Feature record</a> | <a href="/medgen?term=%22Submucous%20cleft%20palate%22%5BClinical%20Features%5D%20OR%201645448%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</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.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11452"><div><strong>Skin tags</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11452</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.">C0037293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11452">Feature record</a> | <a href="/medgen?term=%22Skin%20tags%22%5BClinical%20Features%5D%20OR%2011452%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_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1645448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Submucous cleft palate</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin tags</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_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</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_1815047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermal sinus tract</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia, first degree</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia, second degree</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia, third degree</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75554" target="_blank" href="/omim/164210">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=75554" ref="ncbi_uid=75554">V</a></span></span><span class="TLline"><a href="/medgen/75554" ref="tree=GTR&ncbi_uid=75554&link_uid=75554" title="View MedGen record for 'Craniofacial microsomia'">Craniofacial microsomia</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/501171" ref="tree=GTR&ncbi_uid=501171&link_uid=501171" title="View MedGen record for 'Craniofacial microsomia 1'">Craniofacial microsomia 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830923" target="_blank" href="/omim/612351">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=1830923" ref="ncbi_uid=1830923">V</a></span></span><span class="TLline">Craniofacial microsomia 2</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826092" ref="tree=MeSH" title="MedGen record for Branchial arch or oral-acral syndrome">Branchial arch or oral-acral syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span><ul><li><span class="matched_ds">Craniofacial microsomia 2</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34727477">Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan CH,
|
||
Hu AC,
|
||
Jain NS,
|
||
Dang BN,
|
||
Liu MT,
|
||
Bertrand AA,
|
||
Wilson LF,
|
||
Lee JC</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2021 Nov-Dec 01;32(8):2771-2773.
|
||
doi: 10.1097/SCS.0000000000007938.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34727477" target="_blank">34727477</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31587959">Prenatal diagnosis of pericallosal lipoma: Systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joigneau Prieto L,
|
||
Ruiz Y,
|
||
Pérez R,
|
||
De León Luis J</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2019 Nov;23(6):764-782.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1016/j.ejpn.2019.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31587959" target="_blank">31587959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2390243">Clinical features and surgical management of dermolipomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNab AA,
|
||
Wright JE,
|
||
Caswell AG</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
|
||
1990 May;18(2):159-62.
|
||
doi: 10.1111/j.1442-9071.1990.tb00608.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2390243" target="_blank">2390243</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(craniofacial%20microsomia%202)%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 (21)</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/37126414">Craniofacial Microsomia: New Updates in Spinal Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonçalves Ferraz B,
|
||
Vendramini-Pittoli S,
|
||
Gomes LP,
|
||
Madeira Brandão M,
|
||
Alonso N,
|
||
Tonello C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Jun 1;34(4):e398-e401.
|
||
Epub 2023 May 1
|
||
doi: 10.1097/SCS.0000000000009326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37126414" target="_blank">37126414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32762309">Posterior semi-circular canal electrode misplacement in Goldenhar's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castellino A,
|
||
Rayamajhi P,
|
||
Kurkure R,
|
||
Kameswaran M</span><br />
|
||
<span class="medgenPMjournal">Cochlear Implants Int</span>
|
||
2021 Jan;22(1):56-60.
|
||
Epub 2020 Aug 6
|
||
doi: 10.1080/14670100.2020.1802905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32762309" target="_blank">32762309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19293168">Genetics of microtia and associated syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alasti F,
|
||
Van Camp G</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2009 Jun;46(6):361-9.
|
||
Epub 2009 Mar 16
|
||
doi: 10.1136/jmg.2008.062158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19293168" target="_blank">19293168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11204676">Hypodontia in hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maruko E,
|
||
Hayes C,
|
||
Evans CA,
|
||
Padwa B,
|
||
Mulliken JB</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2001 Jan;38(1):15-9.
|
||
doi: 10.1597/1545-1569_2001_038_0015_hihm_2.0.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11204676" target="_blank">11204676</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniofacial%20microsomia%202%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 (233)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33215817">Genomic imbalances in craniofacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spineli-Silva S,
|
||
Sgardioli IC,
|
||
Dos Santos AP,
|
||
Bergamini LL,
|
||
Monlleó IL,
|
||
Fontes MIB,
|
||
Félix TM,
|
||
Ribeiro EM,
|
||
Xavier AC,
|
||
Lustosa-Mendes E,
|
||
Gil-da-Silva-Lopes VL,
|
||
Vieira TP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Dec;184(4):970-985.
|
||
Epub 2020 Nov 20
|
||
doi: 10.1002/ajmg.c.31857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33215817" target="_blank">33215817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30851752">Craniofacial Microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birgfeld C,
|
||
Heike C</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2019 Apr;46(2):207-221.
|
||
doi: 10.1016/j.cps.2018.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30851752" target="_blank">30851752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25171997">Branchial arch syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alfi D,
|
||
Lam D,
|
||
Gateno J</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
2014 Sep;22(2):167-73.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1016/j.cxom.2014.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25171997" target="_blank">25171997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/626178">Goldenhar's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feingold M,
|
||
Baum J</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1978 Feb;132(2):136-8.
|
||
doi: 10.1001/archpedi.1978.02120270034006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/626178" target="_blank">626178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniofacial%20microsomia%202%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 (189)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33201057">Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leto MG,
|
||
Toro ME,
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<div class="nl"><a target="_blank" href="/pubmed/36658685">Craniocervical Instability in Oculoauriculovertebral Spectrum.</a></div>
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Pittoli SV,
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Tonello C</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/34855631">Identification of Hub Genes in Hemifacial Microsomia: Evidence From Bioinformatic Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhao S,
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Sun P,
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Li X,
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Xu X,
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Peng Q,
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Shu K,
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Liu B,
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Zhang Z</span><br />
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2022 Mar-Apr 01;33(2):e145-e149.
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doi: 10.1097/SCS.0000000000008164.
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<div class="nl"><a target="_blank" href="/pubmed/34261967">Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Raposo BK,
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Ferreira GB,
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Silva ABDE,
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Ono MCC,
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de Souza J,
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da Silva Freitas R</span><br />
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2022 Jan-Feb 01;33(1):230-232.
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doi: 10.1097/SCS.0000000000007962.
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<span class="bold">PMID: </span><a href="/pubmed/34261967" target="_blank">34261967</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29489413">Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Head LK,
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Xuan L,
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Boyd KU,
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Peters DA</span><br />
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2018 May;55(5):769-772.
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Epub 2018 Feb 28
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doi: 10.1177/1055665618756707.
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<span class="bold">PMID: </span><a href="/pubmed/29489413" target="_blank">29489413</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10937142">Hemifacial spasm or subcortical epilepsy?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arzimanoglou AA,
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Salefranque F,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniofacial%20microsomia%202%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 (106)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/37126414">Craniofacial Microsomia: New Updates in Spinal Anomalies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gonçalves Ferraz B,
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Vendramini-Pittoli S,
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Gomes LP,
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Madeira Brandão M,
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Alonso N,
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Tonello C</span><br />
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<span class="medgenPMjournal">J Craniofac Surg</span>
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Epub 2023 May 1
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doi: 10.1097/SCS.0000000000009326.
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<span class="bold">PMID: </span><a href="/pubmed/37126414" target="_blank">37126414</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658685">Craniocervical Instability in Oculoauriculovertebral Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes LP,
|
||
Ferraz BG,
|
||
Brandão MM,
|
||
Alonso N,
|
||
Pittoli SV,
|
||
Tonello C</span><br />
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<span class="medgenPMjournal">J Craniofac Surg</span>
|
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2023 Jun 1;34(4):1283-1286.
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Epub 2023 Jan 20
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doi: 10.1097/SCS.0000000000009192.
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||
<span class="bold">PMID: </span><a href="/pubmed/36658685" target="_blank">36658685</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/34798657">Neurotrophic Keratitis in a Pediatric Patient With Goldenhar Syndrome and Trigeminal Aplasia Successfully Treated by Corneal Neurotization.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rollon-Mayordomo A,
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Mataix-Albert B,
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Espejo-Arjona F,
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Herce-Lopez J,
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Lledo-Villar L,
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Caparros-Escudero C,
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Infante-Cossio P</span><br />
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doi: 10.1097/IOP.0000000000002086.
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<span class="bold">PMID: </span><a href="/pubmed/34798657" target="_blank">34798657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34261967">Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raposo BK,
|
||
Ferreira GB,
|
||
Silva ABDE,
|
||
Ono MCC,
|
||
de Souza J,
|
||
da Silva Freitas R</span><br />
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||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Jan-Feb 01;33(1):230-232.
|
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doi: 10.1097/SCS.0000000000007962.
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<span class="bold">PMID: </span><a href="/pubmed/34261967" target="_blank">34261967</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/33752938">Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rooijers W,
|
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Renkema RW,
|
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Loudon SE,
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Khoshnaw T,
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||
Padwa BL,
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||
Dunaway DJ,
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||
Koudstaal MJ,
|
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Forrest CR,
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||
Caron CJJM</span><br />
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<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
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2021 Oct;50(10):1303-1311.
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Epub 2021 Mar 20
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||
doi: 10.1016/j.ijom.2021.02.032.
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||
<span class="bold">PMID: </span><a href="/pubmed/33752938" target="_blank">33752938</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniofacial%20microsomia%202%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 (131)</a></div></div>
|
||
</div>
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||
|
||
<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/37987216">Management of unilateral craniofacial microsomia with orthopaedic functional appliances: A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aiyar A,
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||
Pedersen TK,
|
||
Resnick CM,
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||
Nørholt SE,
|
||
Verna C,
|
||
Stoustrup PB</span><br />
|
||
<span class="medgenPMjournal">Orthod Craniofac Res</span>
|
||
2024 Jun;27 Suppl 1:131-140.
|
||
Epub 2023 Nov 21
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||
doi: 10.1111/ocr.12729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37987216" target="_blank">37987216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907434">Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Lande LS,
|
||
Pluijmers BI,
|
||
Caron CJJM,
|
||
Wolvius EB,
|
||
Dunaway DJ,
|
||
Koudstaal MJ,
|
||
Padwa BL</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2018 Sep;46(9):1427-1435.
|
||
Epub 2018 May 25
|
||
doi: 10.1016/j.jcms.2018.05.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907434" target="_blank">29907434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239919">Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirhassankhani S,
|
||
Lloyd MS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):372-375.
|
||
doi: 10.1097/SCS.0000000000004201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239919" target="_blank">29239919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29084117">A Review of Randomized Controlled Trials in Cleft and Craniofacial Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekisz JM,
|
||
Fryml E,
|
||
Flores RL</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Mar;29(2):293-301.
|
||
doi: 10.1097/SCS.0000000000004100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29084117" target="_blank">29084117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28736116">Central nervous system anomalies in craniofacial microsomia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renkema RW,
|
||
Caron CJJM,
|
||
Wolvius EB,
|
||
Dunaway DJ,
|
||
Forrest CR,
|
||
Padwa BL,
|
||
Koudstaal MJ</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2018 Jan;47(1):27-34.
|
||
Epub 2017 Jul 20
|
||
doi: 10.1016/j.ijom.2017.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28736116" target="_blank">28736116</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniofacial%20microsomia%202%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(craniofacial%20microsomia%202)%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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