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<meta name="keywords" content="C4025691, abnormal calvaria morphology, abnormality of calvarial morphology, abnormality of calvarium, abnormality of cranial vault, abnormality of cranium, abnormality of the calvaria, abnormality of the shape of calvarium, abnormality of the skull cap, abnormality of the skullcap, anatomical abnormality, 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="Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=871212
|
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ConceptID=C4025691
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal calvaria morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871212</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.">C4025691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of calvarial morphology; Abnormality of the calvaria</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002683">HP:0002683</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4025691[DISCUI]&test_type=Clinical" ref="ncbi_uid=871212">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=871212" ref="ncbi_uid=871212">V</a></span></span><span class="TLline">Abnormal calvaria morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="matched_ds">Abnormal calvaria morphology</span><ul><li><span class="TLline"><a href="/medgen/867494" ref="tree=MeSH" title="MedGen record for Abnormal frontal bone morphology">Abnormal frontal bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869040" ref="tree=MeSH" title="MedGen record for Abnormal shape of the frontal region">Abnormal shape of the frontal region</a></span><ul><li><span class="TLline"><a href="/medgen/67453" ref="tree=MeSH" title="MedGen record for Frontal bossing">Frontal bossing</a></span></li><li><span class="TLline"><a href="/medgen/375593" ref="tree=MeSH" title="MedGen record for Hypoplasia of the frontal bone">Hypoplasia of the frontal bone</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/868565" ref="tree=MeSH" title="MedGen record for Abnormal occipital bone morphology">Abnormal occipital bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869041" ref="tree=MeSH" title="MedGen record for Abnormal shape of the occiput">Abnormal shape of the occiput</a></span><ul><li><span class="TLline"><a href="/medgen/332439" ref="tree=MeSH" title="MedGen record for Flat occiput">Flat occiput</a></span></li><li><span class="TLline"><a href="/medgen/381255" ref="tree=MeSH" title="MedGen record for Prominent occiput">Prominent occiput</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842007" ref="tree=MeSH" title="MedGen record for Occipital horn">Occipital horn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867457" ref="tree=MeSH" title="MedGen record for Abnormal parietal bone morphology">Abnormal parietal bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347377" ref="tree=MeSH" title="MedGen record for Parietal bossing">Parietal bossing</a></span></li><li><span class="TLline"><a href="/medgen/505331" ref="tree=MeSH" title="MedGen record for Parietal foramina">Parietal foramina</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/147316" ref="tree=MeSH" title="MedGen record for Acrania">Acrania</a></span></li><li><span class="TLline"><a href="/medgen/116072" ref="tree=MeSH" title="MedGen record for Bathrocephaly">Bathrocephaly</a></span></li><li><span class="TLline"><a href="/medgen/340231" ref="tree=MeSH" title="MedGen record for Biparietal narrowing">Biparietal narrowing</a></span></li><li><span class="TLline"><a href="/medgen/113165" ref="tree=MeSH" title="MedGen record for Brachycephaly">Brachycephaly</a></span><ul><li><span class="TLline"><a href="/medgen/350164" ref="tree=MeSH" title="MedGen record for Acrobrachycephaly">Acrobrachycephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98413" ref="tree=MeSH" title="MedGen record for Broad skull">Broad skull</a></span></li><li><span class="TLline"><a href="/medgen/871299" ref="tree=MeSH" title="MedGen record for Calvarial skull defect">Calvarial skull defect</a></span></li><li><span class="TLline"><a href="/medgen/348010" ref="tree=MeSH" title="MedGen record for Cloverleaf skull">Cloverleaf skull</a></span></li><li><span class="TLline"><a href="/medgen/370006" ref="tree=MeSH" title="MedGen record for Copper beaten skull">Copper beaten skull</a></span></li><li><span class="TLline"><a href="/medgen/348059" ref="tree=MeSH" title="MedGen record for Cranial asymmetry">Cranial asymmetry</a></span></li><li><span class="TLline"><a href="/medgen/65142" ref="tree=MeSH" title="MedGen record for Dolichocephaly">Dolichocephaly</a></span><ul><li><span class="TLline"><a href="/medgen/82712" ref="tree=MeSH" title="MedGen record for Isolated scaphocephaly">Isolated scaphocephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348203" ref="tree=MeSH" title="MedGen record for Obliteration of the calvarial diploe">Obliteration of the calvarial diploe</a></span></li><li><span class="TLline"><a href="/medgen/78562" ref="tree=MeSH" title="MedGen record for Plagiocephaly">Plagiocephaly</a></span><ul><li><span class="TLline"><a href="/medgen/868997" ref="tree=MeSH" title="MedGen record for Anterior plagiocephaly">Anterior plagiocephaly</a></span></li><li><span class="TLline"><a href="/medgen/892298" ref="tree=MeSH" title="MedGen record for Posterior plagiocephaly">Posterior plagiocephaly</a></span></li><li><span class="TLline"><a href="/medgen/260663" ref="tree=MeSH" title="MedGen record for Postural plagiocephaly">Postural plagiocephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45959" ref="tree=MeSH" title="MedGen record for Platybasia">Platybasia</a></span></li><li><span class="TLline"><a href="/medgen/1710997" ref="tree=MeSH" title="MedGen record for Platystencephaly">Platystencephaly</a></span></li><li><span class="TLline"><a href="/medgen/140861" ref="tree=MeSH" title="MedGen record for Skull asymmetry">Skull asymmetry</a></span></li><li><span class="TLline"><a href="/medgen/346823" ref="tree=MeSH" title="MedGen record for Thickened calvaria">Thickened calvaria</a></span></li><li><span class="TLline"><a href="/medgen/341097" ref="tree=MeSH" title="MedGen record for Thin calvarium">Thin calvarium</a></span></li><li><span class="TLline"><a href="/medgen/82713" ref="tree=MeSH" title="MedGen record for Trigonocephaly">Trigonocephaly</a></span></li><li><span class="TLline"><a href="/medgen/1726910" ref="tree=MeSH" title="MedGen record for Turricephaly">Turricephaly</a></span><ul><li><span class="TLline"><a href="/medgen/387833" ref="tree=MeSH" title="MedGen record for Brachyturricephaly">Brachyturricephaly</a></span></li><li><span class="TLline"><a href="/medgen/1634950" ref="tree=MeSH" title="MedGen record for Oxycephaly">Oxycephaly</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_120531"><div><strong>Greig cephalopolysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120531</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.">C0265306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greig cephalopolysyndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35465876">Chiari Malformation (Update on Diagnosis and Treatment).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenblum JS,
|
||
Pomeraniec IJ,
|
||
Heiss JD</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2022 May;40(2):297-307.
|
||
Epub 2022 Mar 31
|
||
doi: 10.1016/j.ncl.2021.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35465876" target="_blank">35465876</a><a href="/pmc/articles/PMC9043468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28623672">Craniosynostosis - Recognition, clinical characteristics, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajdic N,
|
||
Spazzapan P,
|
||
Velnar T</span><br />
|
||
<span class="medgenPMjournal">Bosn J Basic Med Sci</span>
|
||
2018 May 20;18(2):110-116.
|
||
doi: 10.17305/bjbms.2017.2083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28623672" target="_blank">28623672</a><a href="/pmc/articles/PMC5988529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19898712">Excessive gingival display--etiology, diagnosis, and treatment modalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silberberg N,
|
||
Goldstein M,
|
||
Smidt A</span><br />
|
||
<span class="medgenPMjournal">Quintessence Int</span>
|
||
2009 Nov-Dec;40(10):809-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19898712" target="_blank">19898712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20calvaria%20morphology)%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 (544)</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/33960863">An algorithmic clinicoradiological approach to paediatric cranial vault lesions: distinguishing normal variants from pathologies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan AP,
|
||
Rasheed S,
|
||
Sidpra J,
|
||
Lim MC,
|
||
James G,
|
||
Oztekin O,
|
||
Gonçalves FG,
|
||
Mankad K</span><br />
|
||
<span class="medgenPMjournal">Br J Neurosurg</span>
|
||
2023 Oct;37(5):986-999.
|
||
Epub 2021 May 7
|
||
doi: 10.1080/02688697.2021.1919599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33960863" target="_blank">33960863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18352797">Craniopagus twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browd SR,
|
||
Goodrich JT,
|
||
Walker ML</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2008 Jan;1(1):1-20.
|
||
doi: 10.3171/PED-08/01/001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18352797" target="_blank">18352797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9558561">Sinus pericranii.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David LR,
|
||
Argenta LC,
|
||
Venes J,
|
||
Wilson J,
|
||
Glazier S</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
1998 Jan;9(1):3-10.
|
||
doi: 10.1097/00001665-199801000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9558561" target="_blank">9558561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10332258">Rare craniofacial clefts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore MH</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
1996 Nov;7(6):408-11.
|
||
doi: 10.1097/00001665-199611000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10332258" target="_blank">10332258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7572098">Abnormal craniofacial growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friede H</span><br />
|
||
<span class="medgenPMjournal">Acta Odontol Scand</span>
|
||
1995 Jun;53(3):203-9.
|
||
doi: 10.3109/00016359509005973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7572098" target="_blank">7572098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20calvaria%20morphology%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 (6877)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656152">Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markovic I,
|
||
Bosnjakovic P,
|
||
Milenkovic Z</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2020;16(3):200-205.
|
||
doi: 10.2174/1573396315666191018161535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656152" target="_blank">31656152</a><a href="/pmc/articles/PMC8193807" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28623672">Craniosynostosis - Recognition, clinical characteristics, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajdic N,
|
||
Spazzapan P,
|
||
Velnar T</span><br />
|
||
<span class="medgenPMjournal">Bosn J Basic Med Sci</span>
|
||
2018 May 20;18(2):110-116.
|
||
doi: 10.17305/bjbms.2017.2083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28623672" target="_blank">28623672</a><a href="/pmc/articles/PMC5988529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24926969">Acalvaria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hawasli AH,
|
||
Beaumont TL,
|
||
Vogel TW,
|
||
Woo AS,
|
||
Leonard JR</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2014 Aug;14(2):200-2.
|
||
Epub 2014 Jun 13
|
||
doi: 10.3171/2014.5.PEDS13688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24926969" target="_blank">24926969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12825844">The abnormal fontanel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiesler J,
|
||
Ricer R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2003 Jun 15;67(12):2547-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12825844" target="_blank">12825844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14071056">OCULOAURICULOVERTEBRAL DYSPLASIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GORLIN RJ,
|
||
JUE KL,
|
||
JACOBSEN U,
|
||
GOLDSCHMIDT E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1963 Nov;63:991-9.
|
||
doi: 10.1016/s0022-3476(63)80233-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14071056" target="_blank">14071056</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20calvaria%20morphology%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 (6596)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35821585">Denosumab Therapy in Cherubism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liles SI,
|
||
C Hoppe I,
|
||
Arnold L</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 Dec;60(12):1665-1673.
|
||
Epub 2022 Jul 12
|
||
doi: 10.1177/10556656221113891.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35821585" target="_blank">35821585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30851747">Syndromic Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawh-Martinez R,
|
||
Steinbacher DM</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2019 Apr;46(2):141-155.
|
||
doi: 10.1016/j.cps.2018.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30851747" target="_blank">30851747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30851746">Nonsyndromic Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dempsey RF,
|
||
Monson LA,
|
||
Maricevich RS,
|
||
Truong TA,
|
||
Olarunnipa S,
|
||
Lam SK,
|
||
Dauser RC,
|
||
Hollier LH Jr,
|
||
Buchanan EP</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2019 Apr;46(2):123-139.
|
||
Epub 2019 Jan 30
|
||
doi: 10.1016/j.cps.2018.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30851746" target="_blank">30851746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24784879">Helmet therapy in infants with positional skull deformation: randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wijk RM,
|
||
van Vlimmeren LA,
|
||
Groothuis-Oudshoorn CG,
|
||
Van der Ploeg CP,
|
||
Ijzerman MJ,
|
||
Boere-Boonekamp MM</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2014 May 1;348:g2741.
|
||
doi: 10.1136/bmj.g2741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24784879" target="_blank">24784879</a><a href="/pmc/articles/PMC4006966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3521214">Bile acids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whiting MJ</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
1986;25:169-232.
|
||
doi: 10.1016/s0065-2423(08)60126-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3521214" target="_blank">3521214</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20calvaria%20morphology%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 (1933)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656152">Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markovic I,
|
||
Bosnjakovic P,
|
||
Milenkovic Z</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2020;16(3):200-205.
|
||
doi: 10.2174/1573396315666191018161535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656152" target="_blank">31656152</a><a href="/pmc/articles/PMC8193807" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29198392">Reprint of-Differential diagnosis: Trepanation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verano JW</span><br />
|
||
<span class="medgenPMjournal">Int J Paleopathol</span>
|
||
2017 Dec;19:111-118.
|
||
Epub 2017 Mar 28
|
||
doi: 10.1016/j.ijpp.2017.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29198392" target="_blank">29198392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16833254">Sagittal synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jane JA Jr,
|
||
Lin KY,
|
||
Jane JA Sr</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2000 Sep 15;9(3):e3.
|
||
doi: 10.3171/foc.2000.9.3.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16833254" target="_blank">16833254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11151720">Nasal encephaloceles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoving EW</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2000 Nov;16(10-11):702-6.
|
||
doi: 10.1007/s003810000339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11151720" target="_blank">11151720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1468459">Craniofrontonasal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapusta L,
|
||
Brunner HG,
|
||
Hamel BC</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1992 Nov;151(11):837-41.
|
||
doi: 10.1007/BF01957936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1468459" target="_blank">1468459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20calvaria%20morphology%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 (3835)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30851746">Nonsyndromic Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dempsey RF,
|
||
Monson LA,
|
||
Maricevich RS,
|
||
Truong TA,
|
||
Olarunnipa S,
|
||
Lam SK,
|
||
Dauser RC,
|
||
Hollier LH Jr,
|
||
Buchanan EP</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2019 Apr;46(2):123-139.
|
||
Epub 2019 Jan 30
|
||
doi: 10.1016/j.cps.2018.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30851746" target="_blank">30851746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29198392">Reprint of-Differential diagnosis: Trepanation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verano JW</span><br />
|
||
<span class="medgenPMjournal">Int J Paleopathol</span>
|
||
2017 Dec;19:111-118.
|
||
Epub 2017 Mar 28
|
||
doi: 10.1016/j.ijpp.2017.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29198392" target="_blank">29198392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28258274">Early Orthognathic Surgery: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alwadei S</span><br />
|
||
<span class="medgenPMjournal">J Contemp Dent Pract</span>
|
||
2017 Mar 1;18(3):250-256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28258274" target="_blank">28258274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16833254">Sagittal synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jane JA Jr,
|
||
Lin KY,
|
||
Jane JA Sr</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2000 Sep 15;9(3):e3.
|
||
doi: 10.3171/foc.2000.9.3.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16833254" target="_blank">16833254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1468459">Craniofrontonasal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapusta L,
|
||
Brunner HG,
|
||
Hamel BC</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1992 Nov;151(11):837-41.
|
||
doi: 10.1007/BF01957936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1468459" target="_blank">1468459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20calvaria%20morphology%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 (3639)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39578995">Does Current Evidence Support the Discussion Around the Guidance Theory? A Systematic Review and Meta-Analysis on the Association Between Maxillary Lateral Incisor Agenesis and Displacement or Impaction of the Permanent Canine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papageorgiou SN,
|
||
Seehra J,
|
||
Cobourne MT,
|
||
Kanavakis G</span><br />
|
||
<span class="medgenPMjournal">Orthod Craniofac Res</span>
|
||
2025 Apr;28(2):312-323.
|
||
Epub 2024 Nov 23
|
||
doi: 10.1111/ocr.12878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39578995" target="_blank">39578995</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36980886">Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tooze RS,
|
||
Calpena E,
|
||
Weber A,
|
||
Wilson LC,
|
||
Twigg SRF,
|
||
Wilkie AOM</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Feb 28;14(3)
|
||
doi: 10.3390/genes14030615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36980886" target="_blank">36980886</a><a href="/pmc/articles/PMC10048212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35738119">Peculiar bony involvement of sinus pericranii in children: Extensive diploic erosion in three "karstic" variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiaschi P,
|
||
Bue EL,
|
||
Ceraudo M,
|
||
Secci F,
|
||
Tortora D,
|
||
Piatelli G,
|
||
Severino M,
|
||
Gandolfo C,
|
||
Vercellino N,
|
||
Pavanello M</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2022 Aug;219:107334.
|
||
Epub 2022 Jun 9
|
||
doi: 10.1016/j.clineuro.2022.107334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35738119" target="_blank">35738119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35654328">Primary Intraosseous Cavernous Hemangioma of the Cranium: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexiou GA,
|
||
Lampros M,
|
||
Gavra MM,
|
||
Vlachos N,
|
||
Ydreos J,
|
||
Boviatsis EJ</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2022 Aug;164:323-329.
|
||
Epub 2022 May 30
|
||
doi: 10.1016/j.wneu.2022.05.107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35654328" target="_blank">35654328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30721300">Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Detsky ME,
|
||
Jivraj N,
|
||
Adhikari NK,
|
||
Friedrich JO,
|
||
Pinto R,
|
||
Simel DL,
|
||
Wijeysundera DN,
|
||
Scales DC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Feb 5;321(5):493-503.
|
||
doi: 10.1001/jama.2018.21413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30721300" target="_blank">30721300</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20calvaria%20morphology%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 (117)</a></div></div>
|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4025691%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4025691%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4025691%5bDISCUI%5d" target="_blank">See all (8)</a></total></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=(abnormal%20calvaria%20morphology)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20calvaria%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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