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<meta name="keywords" content="C1865044, alx4, alx4 parietal foramina, disease or syndrome, parietal foramina 2, parietal foramina caused by mutation in alx4, parietal foramina type 2, pfm2, 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="Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Parietal foramina 2 (Concept Id: C1865044)
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<!--
UID=355358
ConceptID=C1865044
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Parietal foramina 2<span class="h1sub">(PFM2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355358</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)&#10;Click for more information.">C1865044</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>PFM2</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="ALX4 - ID: 60529 - NCBI Gene" href="/gene/60529" class="medgenPMinfo">ALX4</a> (11p11.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012309" target="_blank">MONDO:0012309</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/609597" target="_blank">609597</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1128" target="_blank">Enlarged Parietal Foramina</a></div><div>Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1128#msx2.Summary" target="NBK1128">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Diagnosis" target="NBK1128">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Clinical_Characteristics" target="NBK1128">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Genetically_Related_Allelic_Disorde" target="NBK1128">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Differential_Diagnosis" target="NBK1128">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Management" target="NBK1128">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Genetic_Counseling" target="NBK1128">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Resources" target="NBK1128">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Molecular_Genetics" target="NBK1128">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.Chapter_Notes" target="NBK1128">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1128#msx2.References" target="NBK1128">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Lampros A Mavrogiannis  |  Andrew OM Wilkie   <a href="/books/NBK1128" target="NBK1128" title="NCBI Bookshelf: Enlarged Parietal Foramina">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).&#13;
For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (168500).  <a target="_blank" href="http://www.omim.org/entry/609597">http://www.omim.org/entry/609597</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.<br /><br />The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.<br /><br />There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina">https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_1646412"><div><strong>Encephalocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646412</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)&#10;Click for more information.">C4551722</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646412">Feature record</a> | <a href="/medgen?term=%22Encephalocele%22%5BClinical%20Features%5D%20OR%201646412%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_505331"><div><strong>Parietal foramina</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>505331</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN002451</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/505331">Feature record</a> | <a href="/medgen?term=%22Parietal%20foramina%22%5BClinical%20Features%5D%20OR%20505331%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1836542</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_866473"><div><strong>Wide nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866473</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)&#10;Click for more information.">C4020718</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased width of the nasal ridge.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/866473">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%20866473%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_343411"><div><strong>Aplasia cutis congenita of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343411</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)&#10;Click for more information.">C1855698</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental defect resulting in the congenital absence of skin on the scalp.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343411">Feature record</a> | <a href="/medgen?term=%22Aplasia%20cutis%20congenita%20of%20scalp%22%5BClinical%20Features%5D%20OR%20343411%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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)&#10;Click for more information.">C0020534</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal ridge</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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_343411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis congenita of scalp</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_505331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parietal foramina</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_1646412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalocele</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868598[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=358250">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358250" target="_blank" href="/omim/168500">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&amp;from_uid=358250" ref="ncbi_uid=358250">V</a></span></span><span class="TLline"><a href="/medgen/358250" ref="tree=GTR&amp;ncbi_uid=358250&amp;link_uid=358250" title="View MedGen record for 'Cranium bifidum occultum'">Cranium bifidum occultum</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868599[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=401480">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=401480" target="_blank" href="/omim/123101">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1128/" ref="ncbi_uid=401480">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=401480" ref="ncbi_uid=401480">V</a></span></span><span class="TLline"><a href="/medgen/401480" ref="tree=GTR&amp;ncbi_uid=401480&amp;link_uid=401480" title="View MedGen record for 'Parietal foramina 1'">Parietal foramina 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865044[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355358">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355358" target="_blank" href="/omim/605420">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1128/" ref="ncbi_uid=355358">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=355358" ref="ncbi_uid=355358">V</a></span></span><span class="TLline">Parietal foramina 2</span></li><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=322792" target="_blank" href="/omim/609566">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/322792" ref="tree=GTR&amp;ncbi_uid=322792&amp;link_uid=322792" title="View MedGen record for 'Parietal foramina 3'">Parietal foramina 3</a></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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/1646412" ref="tree=MeSH" title="MedGen record for Encephalocele">Encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/358250" ref="tree=MeSH" title="MedGen record for Cranium bifidum occultum">Cranium bifidum occultum</a></span><ul><li><span class="matched_ds">Parietal foramina 2</span></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_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/16319823">Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mavrogiannis LA,
Taylor IB,
Davies SJ,
Ramos FJ,
Olivares JL,
Wilkie AO</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2006 Feb;14(2):151-8.
doi: 10.1038/sj.ejhg.5201526.
<span class="bold">PMID: </span><a href="/pubmed/16319823" target="_blank">16319823</a><a href="/pmc/articles/PMC1477589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(parietal%20foramina%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 (1)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/29278458">Osteologic analysis of ethnic differences in supernumerary ethmoidal foramina: implications for endoscopic sinus and orbit surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mueller SK,
Bleier BS</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2018 May;8(5):655-658.
Epub 2017 Dec 26
doi: 10.1002/alr.22059.
<span class="bold">PMID: </span><a href="/pubmed/29278458" target="_blank">29278458</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26498934">The extracranial to intracranial anastomotic channel through the parietal foramen: delineation with magnetic resonance imaging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsutsumi S,
Nonaka S,
Ono H,
Yasumoto Y</span><br />
<span class="medgenPMjournal">Surg Radiol Anat</span>
2016 May;38(4):455-9.
Epub 2015 Oct 24
doi: 10.1007/s00276-015-1579-4.
<span class="bold">PMID: </span><a href="/pubmed/26498934" target="_blank">26498934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22592614">Skull fractures through parietal foramina: report of two cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Edwards LS,
Sachs JR,
Elster AD</span><br />
<span class="medgenPMjournal">J Comput Assist Tomogr</span>
2012 May-Jun;36(3):308-9.
doi: 10.1097/RCT.0b013e31824d9331.
<span class="bold">PMID: </span><a href="/pubmed/22592614" target="_blank">22592614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12867871">Surgical management of foramina parietalia permagna.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kortesis B,
Richards T,
David L,
Glazier S,
Argenta L</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2003 Jul;14(4):538-44.
doi: 10.1097/00001665-200307000-00028.
<span class="bold">PMID: </span><a href="/pubmed/12867871" target="_blank">12867871</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
Kemp SS,
Oh KS</span><br />
<span class="medgenPMjournal">Radiol Clin North Am</span>
1991 Mar;29(2):195-218.
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20foramina%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/27975139">Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gabor L,
Canaz H,
Canaz G,
Kara N,
Gulec EY,
Alatas I</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2017 May;33(5):853-857.
Epub 2016 Dec 14
doi: 10.1007/s00381-016-3315-8.
<span class="bold">PMID: </span><a href="/pubmed/27975139" target="_blank">27975139</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25253662">Enlarged parietal foramina.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">deSouza RM,
Bassi S</span><br />
<span class="medgenPMjournal">Br J Neurosurg</span>
2015 Apr;29(2):294.
Epub 2014 Sep 25
doi: 10.3109/02688697.2014.957651.
<span class="bold">PMID: </span><a href="/pubmed/25253662" target="_blank">25253662</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15569759">Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valente M,
Valente KD,
Sugayama SS,
Kim CA</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2004 Nov-Dec;25(10):1836-9.
<span class="bold">PMID: </span><a href="/pubmed/15569759" target="_blank">15569759</a><a href="/pmc/articles/PMC8148717" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11017806">Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu YQ,
Badano JL,
McCaskill C,
Vogel H,
Potocki L,
Shaffer LG</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2000 Nov;67(5):1327-32.
Epub 2000 Oct 3
doi: 10.1016/S0002-9297(07)62963-2.
<span class="bold">PMID: </span><a href="/pubmed/11017806" target="_blank">11017806</a><a href="/pmc/articles/PMC1288575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
Kemp SS,
Oh KS</span><br />
<span class="medgenPMjournal">Radiol Clin North Am</span>
1991 Mar;29(2):195-218.
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20foramina%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 (12)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/12867871">Surgical management of foramina parietalia permagna.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kortesis B,
Richards T,
David L,
Glazier S,
Argenta L</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2003 Jul;14(4):538-44.
doi: 10.1097/00001665-200307000-00028.
<span class="bold">PMID: </span><a href="/pubmed/12867871" target="_blank">12867871</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10672583">Hydrocephalus and the reproductive health of women: the medical implications of maternal shunt dependency in 70 women and 138 pregnancies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liakos AM,
Bradley NK,
Magram G,
Muszynski C</span><br />
<span class="medgenPMjournal">Neurol Res</span>
2000 Jan;22(1):69-88.
doi: 10.1080/01616412.2000.11741040.
<span class="bold">PMID: </span><a href="/pubmed/10672583" target="_blank">10672583</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20foramina%202%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/26498934">The extracranial to intracranial anastomotic channel through the parietal foramen: delineation with magnetic resonance imaging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsutsumi S,
Nonaka S,
Ono H,
Yasumoto Y</span><br />
<span class="medgenPMjournal">Surg Radiol Anat</span>
2016 May;38(4):455-9.
Epub 2015 Oct 24
doi: 10.1007/s00276-015-1579-4.
<span class="bold">PMID: </span><a href="/pubmed/26498934" target="_blank">26498934</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12867871">Surgical management of foramina parietalia permagna.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kortesis B,
Richards T,
David L,
Glazier S,
Argenta L</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2003 Jul;14(4):538-44.
doi: 10.1097/00001665-200307000-00028.
<span class="bold">PMID: </span><a href="/pubmed/12867871" target="_blank">12867871</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10672583">Hydrocephalus and the reproductive health of women: the medical implications of maternal shunt dependency in 70 women and 138 pregnancies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liakos AM,
Bradley NK,
Magram G,
Muszynski C</span><br />
<span class="medgenPMjournal">Neurol Res</span>
2000 Jan;22(1):69-88.
doi: 10.1080/01616412.2000.11741040.
<span class="bold">PMID: </span><a href="/pubmed/10672583" target="_blank">10672583</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
Kemp SS,
Oh KS</span><br />
<span class="medgenPMjournal">Radiol Clin North Am</span>
1991 Mar;29(2):195-218.
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20foramina%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37682857">Surgical Anatomy of the Ligamentous Attachments in the Superoposterior Scalp Region.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bran G,
Van Genechten M</span><br />
<span class="medgenPMjournal">Aesthet Surg J</span>
2023 Oct 13;43(11):NP825-NP831.
doi: 10.1093/asj/sjad249.
<span class="bold">PMID: </span><a href="/pubmed/37682857" target="_blank">37682857</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33399919">The parietal foramen anatomy: studies using dry skulls, cadaver and in vivo MRI.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Souza Ferreira MR,
Galvão APO,
de Queiroz Lima PTMB,
de Queiroz Lima AMB,
Magalhães CP,
Valença MM</span><br />
<span class="medgenPMjournal">Surg Radiol Anat</span>
2021 Jul;43(7):1159-1168.
Epub 2021 Jan 5
doi: 10.1007/s00276-020-02650-0.
<span class="bold">PMID: </span><a href="/pubmed/33399919" target="_blank">33399919</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15924278">Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mendoza-Londono R,
Lammer E,
Watson R,
Harper J,
Hatamochi A,
Hatamochi-Hayashi S,
Napierala D,
Hermanns P,
Collins S,
Roa BB,
Hedge MR,
Wakui K,
Nguyen D,
Stockton DW,
Lee B</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2005 Jul;77(1):161-8.
Epub 2005 May 27
doi: 10.1086/431654.
<span class="bold">PMID: </span><a href="/pubmed/15924278" target="_blank">15924278</a><a href="/pmc/articles/PMC1226190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12905082">A novel locus for parietal foramina maps to chromosome 4q21-q23.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen G,
Zhang D,
Feng G,
Liu W,
He L</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2003;48(8):420-424.
Epub 2003 Aug 7
doi: 10.1007/s10038-003-0050-2.
<span class="bold">PMID: </span><a href="/pubmed/12905082" target="_blank">12905082</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
Kemp SS,
Oh KS</span><br />
<span class="medgenPMjournal">Radiol Clin North Am</span>
1991 Mar;29(2):195-218.
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20foramina%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 (9)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1865044%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
<li><a href="/gtr/tests?term=C1865044%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
<li><a href="/gtr/tests?term=C1865044%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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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=(parietal%20foramina%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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