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<meta name="keywords" content="C0340803, capillary malformation, capillary malformations, capillary malformations, congenital, capillary malformations, congenital, 1, cmal, cmc, congenital abnormality, congenital anomaly of capillary, rare capillary malformation, 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="A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=90955
|
||
ConceptID=C0340803
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Capillary malformation<span class="h1sub">(CMC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90955</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.">C0340803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CAPILLARY MALFORMATIONS; Capillary malformations, congenital; CMC</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital anomaly of capillary (234118009); Capillary malformation (234118009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/2776">GNAQ</a></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:0025104">HP:0025104</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016231" target="_blank">MONDO:0016231</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/163000" target="_blank">163000</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=211247">ORPHA211247</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">A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_118">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C0340803[DISCUI]&test_type=Clinical" ref="ncbi_uid=90955">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0340803[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=90955">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=90955" target="_blank" href="/omim/163000">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=90955" ref="ncbi_uid=90955">V</a></span></span><span class="TLline">Capillary malformation</span><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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1371033" ref="tree=GTR&ncbi_uid=1371033&link_uid=1371033" title="View MedGen record for 'Angioma serpentinum'">Angioma serpentinum</a></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=83381" target="_blank" href="/omim/219250">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK581081/" ref="ncbi_uid=83381">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/83381" ref="tree=GTR&ncbi_uid=83381&link_uid=83381" title="View MedGen record for 'Congenital livedo reticularis'">Congenital livedo reticularis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931029[DISCUI]&test_type=Clinical" ref="ncbi_uid=419699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419699" target="_blank" href="/omim/163000">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=419699" ref="ncbi_uid=419699">V</a></span></span><span class="TLline"><a href="/medgen/419699" ref="tree=GTR&ncbi_uid=419699&link_uid=419699" title="View MedGen record for 'Familial multiple nevi flammei'">Familial multiple nevi flammei</a></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=82725" target="_blank" href="/omim/163050">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/82725" ref="tree=GTR&ncbi_uid=82725&link_uid=82725" title="View MedGen record for 'Nevus anemicus'">Nevus anemicus</a></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=65911" target="_blank" href="/omim/163000">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/65911" ref="tree=GTR&ncbi_uid=65911&link_uid=65911" title="View MedGen record for 'Nevus flammeus'">Nevus flammeus</a></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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1369839" ref="tree=GTR&ncbi_uid=1369839&link_uid=1369839" title="View MedGen record for 'Nevus roseus'">Nevus roseus</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="matched_ds">Capillary malformation</span><ul><li><span class="TLline"><a href="/medgen/1371033" ref="tree=MeSH" title="MedGen record for Angioma serpentinum">Angioma serpentinum</a></span></li><li><span class="TLline"><a href="/medgen/75528" ref="tree=MeSH" title="MedGen record for Angioma serpiginosum">Angioma serpiginosum</a></span></li><li><span class="TLline"><a href="/medgen/334007" ref="tree=MeSH" title="MedGen record for Capillary malformation-arteriovenous malformation syndrome">Capillary malformation-arteriovenous malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83381" ref="tree=MeSH" title="MedGen record for Congenital livedo reticularis">Congenital livedo reticularis</a></span></li><li><span class="TLline"><a href="/medgen/419699" ref="tree=MeSH" title="MedGen record for Familial multiple nevi flammei">Familial multiple nevi flammei</a></span></li><li><span class="TLline"><a href="/medgen/52657" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/371403" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 3">Hereditary hemorrhagic telangiectasia type 3</a></span></li><li><span class="TLline"><a href="/medgen/341824" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 4">Hereditary hemorrhagic telangiectasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1643786" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 1">Telangiectasia, hereditary hemorrhagic, type 1</a></span></li><li><span class="TLline"><a href="/medgen/324960" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 2">Telangiectasia, hereditary hemorrhagic, type 2</a></span></li><li><span class="TLline"><a href="/medgen/816040" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 5">Telangiectasia, hereditary hemorrhagic, type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82725" ref="tree=MeSH" title="MedGen record for Nevus anemicus">Nevus anemicus</a></span></li><li><span class="TLline"><a href="/medgen/65911" ref="tree=MeSH" title="MedGen record for Nevus flammeus">Nevus flammeus</a></span><ul><li><span class="TLline"><a href="/medgen/340225" ref="tree=MeSH" title="MedGen record for Naevus flammeus of the eyelid">Naevus flammeus of the eyelid</a></span></li><li><span class="TLline"><a href="/medgen/870384" ref="tree=MeSH" title="MedGen record for Nevus flammeus nuchae">Nevus flammeus nuchae</a></span></li><li><span class="TLline"><a href="/medgen/376454" ref="tree=MeSH" title="MedGen record for Nevus flammeus of the forehead">Nevus flammeus of the forehead</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369839" ref="tree=MeSH" title="MedGen record for Nevus roseus">Nevus roseus</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18713&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Capillary malformation</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_442876"><div><strong>CLOVES syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442876</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.">C2752042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/442876">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</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.">C3275447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481926"><div><strong>Microcephaly-capillary malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481926</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.">C3280296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: microcephaly and generalized cutaneous capillary malformations (a few to hundreds of oval/circular macules or patches varying in size from 1-2 mm to several cm), hypoplastic distal phalanges of the hands and/or feet, early-onset intractable epilepsy, and profound developmental delay. Seizures, which can be focal, tonic, and complex partial and can include infantile spasms, appear to stabilize after age two years. Myoclonus of the limbs and eyelids is common; other abnormal movements (dyskinetic, choreiform) may be seen. To date, the diagnosis has been confirmed in 18 individuals from 15 families.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481926">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934639"><div><strong>Shashi-Pena syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934639</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.">C4310672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Shashi-Pena syndrome is characterized by distinctive facial features accompanied by variable further clinical findings. Facial features may include glabellar nevus simplex, widely spaced and prominent/proptotic eyes with epicanthal folds and ptosis, arched eyebrows, broad nasal tip, and low-set/posteriorly rotated ears. Dental anomalies may include early eruption and loss of teeth as well as small and fragile teeth. Most affected individuals have infantile hypotonia that frequently resolves over time. Macrosomia and macrocephaly are also common. Affected individuals can have variable developmental delay / intellectual disability, ranging from low-average intellectual abilities to severe intellectual disability. They often demonstrate difficulties with attention and aggressive behavior. Affected individuals may have feeding difficulties that require supportive nasogastric or gastrostomy tube feeding, skin findings (capillary malformations, deep palmar creases, hypertrichosis), skeletal anomalies (scoliosis/kyphosis, hypermobility, frequent fractures), congenital heart defects, seizures, hypoglycemia (most typically in infancy, may be due to hyperinsulinism), vision abnormalities (strabismus, amblyopia), conductive hearing loss, sleep apnea, temperature dysregulation, and global volume loss on brain MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934639">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648501"><div><strong>Capillary malformation-arteriovenous malformation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648501</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4747394</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648501">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648502"><div><strong>Capillary malformation-arteriovenous malformation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648502</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.">C4748670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648502">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Capillary malformation-arteriovenous malformation 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Capillary malformation-arteriovenous malformation 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CLOVES syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-capillary malformation syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shashi-Pena syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/36710374">Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yeom S,
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Cohen B,
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Weiss CR,
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Montano C,
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Wohler E,
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Sobreira N,
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Hammill AM,
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Comi A</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2023 Apr;191(4):983-994.
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Epub 2023 Jan 29
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doi: 10.1002/ajmg.a.63106.
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<span class="bold">PMID: </span><a href="/pubmed/36710374" target="_blank">36710374</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34240408">A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Douzgou S,
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Rawson M,
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Baselga E,
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Danielpour M,
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Faivre L,
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Kashanian A,
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Keppler-Noreuil KM,
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Kuentz P,
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Mancini GMS,
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Maniere MC,
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Martinez-Glez V,
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Parker VE,
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Semple RK,
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Srivastava S,
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Vabres P,
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De Wit MY,
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Graham JM Jr,
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Clayton-Smith J,
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Mirzaa GM,
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Biesecker LG</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2022 Jan;101(1):32-47.
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Epub 2021 Jul 16
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doi: 10.1111/cge.14027.
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<span class="bold">PMID: </span><a href="/pubmed/34240408" target="_blank">34240408</a><a href="/pmc/articles/PMC8664971" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
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Rios JJ,
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Parker VE,
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Semple RK,
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Lindhurst MJ,
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Sapp JC,
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Alomari A,
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Ezaki M,
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Dobyns W,
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Biesecker LG</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2015 Feb;167A(2):287-95.
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Epub 2014 Dec 31
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doi: 10.1002/ajmg.a.36836.
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<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22capillary%20malformation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (47)</a></div></div>
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</div>
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||
<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>
|
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<div class="portlet mgSection" id="ID_103">
|
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<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/38618955">Capillary malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammill AM,
|
||
Boscolo E</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2024 Apr 15;134(8)
|
||
doi: 10.1172/JCI172842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38618955" target="_blank">38618955</a><a href="/pmc/articles/PMC11014659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38602868">RASopathies for Radiologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handa A,
|
||
Tsujioka Y,
|
||
Nishimura G,
|
||
Nozaki T,
|
||
Kono T,
|
||
Jinzaki M,
|
||
Harms T,
|
||
Connolly SA,
|
||
Sato TS,
|
||
Sato Y</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2024 May;44(5):e230153.
|
||
doi: 10.1148/rg.230153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38602868" target="_blank">38602868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36263782">Updates on Sturge-Weber Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeom S,
|
||
Comi AM</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2022 Dec;53(12):3769-3779.
|
||
Epub 2022 Oct 20
|
||
doi: 10.1161/STROKEAHA.122.038585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36263782" target="_blank">36263782</a><a href="/pmc/articles/PMC11062639" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34240408">A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douzgou S,
|
||
Rawson M,
|
||
Baselga E,
|
||
Danielpour M,
|
||
Faivre L,
|
||
Kashanian A,
|
||
Keppler-Noreuil KM,
|
||
Kuentz P,
|
||
Mancini GMS,
|
||
Maniere MC,
|
||
Martinez-Glez V,
|
||
Parker VE,
|
||
Semple RK,
|
||
Srivastava S,
|
||
Vabres P,
|
||
De Wit MY,
|
||
Graham JM Jr,
|
||
Clayton-Smith J,
|
||
Mirzaa GM,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Jan;101(1):32-47.
|
||
Epub 2021 Jul 16
|
||
doi: 10.1111/cge.14027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34240408" target="_blank">34240408</a><a href="/pmc/articles/PMC8664971" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23875798">The RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rauen KA</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Genomics Hum Genet</span>
|
||
2013;14:355-69.
|
||
Epub 2013 Jul 15
|
||
doi: 10.1146/annurev-genom-091212-153523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23875798" target="_blank">23875798</a><a href="/pmc/articles/PMC4115674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Capillary%20malformation%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 (155)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36263782">Updates on Sturge-Weber Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeom S,
|
||
Comi AM</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2022 Dec;53(12):3769-3779.
|
||
Epub 2022 Oct 20
|
||
doi: 10.1161/STROKEAHA.122.038585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36263782" target="_blank">36263782</a><a href="/pmc/articles/PMC11062639" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34240408">A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douzgou S,
|
||
Rawson M,
|
||
Baselga E,
|
||
Danielpour M,
|
||
Faivre L,
|
||
Kashanian A,
|
||
Keppler-Noreuil KM,
|
||
Kuentz P,
|
||
Mancini GMS,
|
||
Maniere MC,
|
||
Martinez-Glez V,
|
||
Parker VE,
|
||
Semple RK,
|
||
Srivastava S,
|
||
Vabres P,
|
||
De Wit MY,
|
||
Graham JM Jr,
|
||
Clayton-Smith J,
|
||
Mirzaa GM,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Jan;101(1):32-47.
|
||
Epub 2021 Jul 16
|
||
doi: 10.1111/cge.14027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34240408" target="_blank">34240408</a><a href="/pmc/articles/PMC8664971" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31017636">Capillary Malformation-Arteriovenous Malformation Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibley CD,
|
||
Ramien ML</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2019 Jun 1;155(6):733.
|
||
doi: 10.1001/jamadermatol.2019.0319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31017636" target="_blank">31017636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27607324">Multifocal vascular lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levin LE,
|
||
Lauren CT</span><br />
|
||
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
|
||
2016 Sep;35(3):153-60.
|
||
doi: 10.12788/j.sder.2016.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27607324" target="_blank">27607324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
|
||
Rios JJ,
|
||
Parker VE,
|
||
Semple RK,
|
||
Lindhurst MJ,
|
||
Sapp JC,
|
||
Alomari A,
|
||
Ezaki M,
|
||
Dobyns W,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Feb;167A(2):287-95.
|
||
Epub 2014 Dec 31
|
||
doi: 10.1002/ajmg.a.36836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Capillary%20malformation%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 (245)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35411941">Treatment of facial hypertrophic capillary malformations with tumescent-assisted sclerotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang M,
|
||
Parsi K</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
2022 May;63(2):235-239.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1111/ajd.13838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35411941" target="_blank">35411941</a><a href="/pmc/articles/PMC9321826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31948669">Is it better to reduce the intervals between pulsed dye laser treatments for port wine stains in children? Laser Doppler Imaging based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Ezzi O,
|
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Tessa M,
|
||
Pierluigi B,
|
||
de Buys Roessingh AS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2020 Nov;55(11):2459-2465.
|
||
Epub 2019 Dec 28
|
||
doi: 10.1016/j.jpedsurg.2019.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31948669" target="_blank">31948669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30344159">Generalised nevus flammeus, episcleral capillary malformation and glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takkar B,
|
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Saxena H,
|
||
Sharma B,
|
||
Rathi A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Oct 21;2018
|
||
doi: 10.1136/bcr-2018-227248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30344159" target="_blank">30344159</a><a href="/pmc/articles/PMC6203074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24156860">Endovascular methods for the treatment of vascular anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gemmete JJ,
|
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Pandey AS,
|
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Kasten SJ,
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Chaudhary N</span><br />
|
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<span class="medgenPMjournal">Neuroimaging Clin N Am</span>
|
||
2013 Nov;23(4):703-28.
|
||
Epub 2013 May 30
|
||
doi: 10.1016/j.nic.2013.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24156860" target="_blank">24156860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17432023">Klippel Trenauny Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jalil J,
|
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Shafique M,
|
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Ghafoor T,
|
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Amin U</span><br />
|
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<span class="medgenPMjournal">J Pak Med Assoc</span>
|
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2007 Mar;57(3):150-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17432023" target="_blank">17432023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Capillary%20malformation%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 (72)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36572450">Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porwal M,
|
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Anderson D,
|
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Razzak AN,
|
||
Fitzgerald G</span><br />
|
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<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2022 Dec 26;15(12)
|
||
doi: 10.1136/bcr-2022-249587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36572450" target="_blank">36572450</a><a href="/pmc/articles/PMC9806087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35298284">Histological Characteristics of Port-Wine Stains with Complete Regression After Photodynamic Therapy Treatment: A 7-Year Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han Y,
|
||
Yu W,
|
||
Wang L,
|
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Cen Q,
|
||
Luo L,
|
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Zhu J,
|
||
Zhang X,
|
||
Ma G,
|
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Lin X</span><br />
|
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<span class="medgenPMjournal">Photobiomodul Photomed Laser Surg</span>
|
||
2022 Mar;40(3):159-162.
|
||
doi: 10.1089/photob.2021.0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35298284" target="_blank">35298284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28711177">Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dymerska M,
|
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Kirkorian AY,
|
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Offermann EA,
|
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Lin DD,
|
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Comi AM,
|
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Cohen BA</span><br />
|
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<span class="medgenPMjournal">J Pediatr</span>
|
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2017 Sep;188:205-209.e1.
|
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Epub 2017 Jul 12
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doi: 10.1016/j.jpeds.2017.05.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28711177" target="_blank">28711177</a><a href="/pmc/articles/PMC6924278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622182">Sturge-Weber syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nabbout R,
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Juhász C</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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2013;111:315-21.
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doi: 10.1016/B978-0-444-52891-9.00037-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/23622182" target="_blank">23622182</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17432023">Klippel Trenauny Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jalil J,
|
||
Shafique M,
|
||
Ghafoor T,
|
||
Amin U</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2007 Mar;57(3):150-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17432023" target="_blank">17432023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Capillary%20malformation%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 (75)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39578666">Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeng Q,
|
||
Lu W,
|
||
Ye Y,
|
||
Li M,
|
||
Ge H,
|
||
Cao Q,
|
||
He W,
|
||
Zhang C,
|
||
Song W</span><br />
|
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<span class="medgenPMjournal">J Dermatol</span>
|
||
2025 Feb;52(2):377-382.
|
||
Epub 2024 Nov 22
|
||
doi: 10.1111/1346-8138.17549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39578666" target="_blank">39578666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38574211">Newborn Skin: Part II. Birthmarks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder KAM,
|
||
Voelckers AD</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2024 Mar;109(3):217-221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574211" target="_blank">38574211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34954287">Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boccara O,
|
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Mazereeuw J,
|
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Martin L,
|
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Bessis D,
|
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Hubiche T,
|
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Chiaverini C,
|
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Dompmartin A,
|
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Mallet S,
|
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Miquel J,
|
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Aubert H,
|
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Puzenat E,
|
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Abasq C,
|
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Gusdorf L,
|
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Hadj-Rabia S,
|
||
Maruani A;
|
||
Groupe de Recherche Clinique de Dermatologie Pédiatrique (GRDP,);
|
||
Filière Maladies rares Dermatologiques (FIMARAD)</span><br />
|
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2022 Oct;87(4):914-916.
|
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Epub 2021 Dec 24
|
||
doi: 10.1016/j.jaad.2021.12.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34954287" target="_blank">34954287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33316689">Sirolimus Treatment in Sturge-Weber Syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sebold AJ,
|
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Day AM,
|
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Ewen J,
|
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Adamek J,
|
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Byars A,
|
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Cohen B,
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Kossoff EH,
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Mizuno T,
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Ryan M,
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Sievers J,
|
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Smegal L,
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Suskauer SJ,
|
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Thomas C,
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Vinks A,
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Zabel TA,
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Hammill AM,
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Comi AM</span><br />
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<span class="medgenPMjournal">Pediatr Neurol</span>
|
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2021 Feb;115:29-40.
|
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Epub 2020 Nov 2
|
||
doi: 10.1016/j.pediatrneurol.2020.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33316689" target="_blank">33316689</a><a href="/pmc/articles/PMC8209677" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22729224">De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rivière JB,
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Mirzaa GM,
|
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O'Roak BJ,
|
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Beddaoui M,
|
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Alcantara D,
|
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Conway RL,
|
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St-Onge J,
|
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Schwartzentruber JA,
|
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Gripp KW,
|
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Nikkel SM,
|
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Worthylake T,
|
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Sullivan CT,
|
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Ward TR,
|
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Butler HE,
|
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Kramer NA,
|
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Albrecht B,
|
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Armour CM,
|
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Armstrong L,
|
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Caluseriu O,
|
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Cytrynbaum C,
|
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Drolet BA,
|
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Innes AM,
|
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Lauzon JL,
|
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Lin AE,
|
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Mancini GM,
|
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Meschino WS,
|
||
Reggin JD,
|
||
Saggar AK,
|
||
Lerman-Sagie T,
|
||
Uyanik G,
|
||
Weksberg R,
|
||
Zirn B,
|
||
Beaulieu CL;
|
||
Finding of Rare Disease Genes (FORGE) Canada Consortium,
|
||
Majewski J,
|
||
Bulman DE,
|
||
O'Driscoll M,
|
||
Shendure J,
|
||
Graham JM Jr,
|
||
Boycott KM,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2012 Jun 24;44(8):934-40.
|
||
doi: 10.1038/ng.2331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22729224" target="_blank">22729224</a><a href="/pmc/articles/PMC3408813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Capillary%20malformation%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 (89)</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/39668417">Laser and light-based treatments for port-wine birthmarks - a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen L,
|
||
Sorbe C,
|
||
Schoen G,
|
||
Schneider SW,
|
||
Herberger K</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2025 Mar;23(3):293-301.
|
||
Epub 2024 Dec 12
|
||
doi: 10.1111/ddg.15612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39668417" target="_blank">39668417</a><a href="/pmc/articles/PMC11887003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38808513">Recent Advances in Photodynamic Therapy for Vascular Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu C,
|
||
Zhu X,
|
||
Li H,
|
||
Wang S,
|
||
Shi N,
|
||
Li W,
|
||
Liu N</span><br />
|
||
<span class="medgenPMjournal">Photobiomodul Photomed Laser Surg</span>
|
||
2024 Aug;42(8):501-508.
|
||
Epub 2024 May 29
|
||
doi: 10.1089/pho.2023.0188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38808513" target="_blank">38808513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33580846">Does interval time between pulsed dye laser treatments for port-wine stains influence outcome? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snast I,
|
||
Lapidoth M,
|
||
Kaftory R,
|
||
Nosrati A,
|
||
Hodak E,
|
||
Mimouni D,
|
||
Solomon-Cohen E,
|
||
Levi A</span><br />
|
||
<span class="medgenPMjournal">Lasers Med Sci</span>
|
||
2021 Dec;36(9):1909-1916.
|
||
Epub 2021 Feb 13
|
||
doi: 10.1007/s10103-021-03264-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33580846" target="_blank">33580846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33271556">Treatment Outcome Measurement Instruments for Port Wine Stains: A Systematic Review of Their Measurement Properties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Raath MI,
|
||
Chohan S,
|
||
Wolkerstorfer A,
|
||
van der Horst CMAM,
|
||
Limpens J,
|
||
Huang X,
|
||
Ding B,
|
||
Storm G,
|
||
van der Hulst RRWJ,
|
||
Heger M</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2021;237(3):416-432.
|
||
Epub 2020 Dec 3
|
||
doi: 10.1159/000511438.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33271556" target="_blank">33271556</a><a href="/pmc/articles/PMC8117375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27511883">Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banzic I,
|
||
Brankovic M,
|
||
Maksimović Ž,
|
||
Davidović L,
|
||
Marković M,
|
||
Rančić Z</span><br />
|
||
<span class="medgenPMjournal">Phlebology</span>
|
||
2017 Jul;32(6):371-383.
|
||
Epub 2016 Aug 9
|
||
doi: 10.1177/0268355516664212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27511883" target="_blank">27511883</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Capillary%20malformation%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0340803%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340803%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340803%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340803%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340803%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0340803%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=211247" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Capillary%20malformation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22capillary%20malformation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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(%22Capillary%20malformation%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/capillary_malformations_congenital" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Capillary%20malformation" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Capillary%20malformation" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Capillary%20malformation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=90955" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0340803[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0340803[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0340803[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=90955" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=90955" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=90955" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=90955" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=90955" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3577667c23b31e0ff3a69">Capillary malformation</a>
|
||
<div class="ralinkpop offscreen_noflow">Capillary malformation<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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