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<meta name="keywords" content="C5231496, calcrl, disease or syndrome, lmphm8, lymphatic malformation 8, 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="Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1684767
|
||
ConceptID=C5231496
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lymphatic malformation 8<span class="h1sub">(LMPHM8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684767</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:">C5231496</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LMPHM8; LYMPHATIC MALFORMATION 8</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CALCRL - ID: 10203 - NCBI Gene" href="/gene/10203" class="medgenPMinfo">CALCRL</a> (2q32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032907" target="_blank">MONDO:0032907</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618773" target="_blank">618773</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">Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_10653"><div><strong>Pericardial effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10653</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.">C0031039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of fluid within the pericardium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10653">Feature record</a> | <a href="/medgen?term=%22Pericardial%20effusion%22%5BClinical%20Features%5D%20OR%2010653%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10805"><div><strong>Pleural effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10805</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.">C0032227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an excessive amount of fluid in the pleural cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10805">Feature record</a> | <a href="/medgen?term=%22Pleural%20effusion%22%5BClinical%20Features%5D%20OR%2010805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376817"><div><strong>Generalized edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376817</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.">C1850534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376817">Feature record</a> | <a href="/medgen?term=%22Generalized%20edema%22%5BClinical%20Features%5D%20OR%20376817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105327"><div><strong>Non-immune hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105327</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.">C0455988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105327">Feature record</a> | <a href="/medgen?term=%22Non-immune%20hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%20105327%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized edema</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-immune hydrops fetalis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pericardial effusion</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleural effusion</a></span></li></ul></li></ul></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/19159721">Differential risk for neonatal surgical airway intervention in prenatally diagnosed neck masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steigman SA,
|
||
Nemes L,
|
||
Barnewolt CE,
|
||
Estroff JA,
|
||
Valim C,
|
||
Jennings RW,
|
||
Fauza DO</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2009 Jan;44(1):76-9.
|
||
doi: 10.1016/j.jpedsurg.2008.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19159721" target="_blank">19159721</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lymphatic%20malformation%208%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 (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34848384">A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmitt JE,
|
||
DeBevits JJ,
|
||
Roalf DR,
|
||
Ruparel K,
|
||
Gallagher RS,
|
||
Gur RC,
|
||
Alexander-Bloch A,
|
||
Eom TY,
|
||
Alam S,
|
||
Steinberg J,
|
||
Akers W,
|
||
Khairy K,
|
||
Crowley TB,
|
||
Emanuel B,
|
||
Zakharenko SS,
|
||
McDonald-McGinn DM,
|
||
Gur RE</span><br />
|
||
<span class="medgenPMjournal">Biol Psychiatry Cogn Neurosci Neuroimaging</span>
|
||
2023 Jan;8(1):79-90.
|
||
Epub 2021 Nov 27
|
||
doi: 10.1016/j.bpsc.2021.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34848384" target="_blank">34848384</a><a href="/pmc/articles/PMC9162086" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32787583">Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hickey SE,
|
||
Kellogg B,
|
||
O'Brien M,
|
||
Hall C,
|
||
Kirschner RE,
|
||
Santoro SL,
|
||
Leonard H,
|
||
Baylis AL</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2020 Dec;57(12):1362-1369.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1177/1055665620947985.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32787583" target="_blank">32787583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29304140">Long term effects of manual lymphatic drainage and active exercises on physical morbidities, lymphoscintigraphy parameters and lymphedema formation in patients operated due to breast cancer: A clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira MMF,
|
||
Gurgel MSC,
|
||
Amorim BJ,
|
||
Ramos CD,
|
||
Derchain S,
|
||
Furlan-Santos N,
|
||
Dos Santos CC,
|
||
Sarian LO</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(1):e0189176.
|
||
Epub 2018 Jan 5
|
||
doi: 10.1371/journal.pone.0189176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29304140" target="_blank">29304140</a><a href="/pmc/articles/PMC5755747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27682988">Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Unolt M,
|
||
DiCairano L,
|
||
Schlechtweg K,
|
||
Barry J,
|
||
Howell L,
|
||
Kasperski S,
|
||
Nance M,
|
||
Adzick NS,
|
||
Zackai EH,
|
||
McDonald-McGinn DM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Jan;173(1):135-142.
|
||
Epub 2016 Sep 28
|
||
doi: 10.1002/ajmg.a.37980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27682988" target="_blank">27682988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23799311">Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oduber CE,
|
||
van Beers EJ,
|
||
Bresser P,
|
||
van der Horst CM,
|
||
Meijers JC,
|
||
Gerdes VE</span><br />
|
||
<span class="medgenPMjournal">Neth J Med</span>
|
||
2013 Jun;71(5):246-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23799311" target="_blank">23799311</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%208%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 (580)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35840486">Trifoliate mesenteric lymphatic malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parida L</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2022 Dec;54(12):1723-1724.
|
||
Epub 2022 Jul 13
|
||
doi: 10.1016/j.dld.2022.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35840486" target="_blank">35840486</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31152211">Vascular anomaly imaging mimics and differential diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mamlouk MD,
|
||
Danial C,
|
||
McCullough WP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2019 Jul;49(8):1088-1103.
|
||
Epub 2019 May 31
|
||
doi: 10.1007/s00247-019-04418-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31152211" target="_blank">31152211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29874693">Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadick M,
|
||
Müller-Wille R,
|
||
Wildgruber M,
|
||
Wohlgemuth WA</span><br />
|
||
<span class="medgenPMjournal">Rofo</span>
|
||
2018 Sep;190(9):825-835.
|
||
Epub 2018 Jun 6
|
||
doi: 10.1055/a-0620-8925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29874693" target="_blank">29874693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12144107">The thymus gland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Askin DF,
|
||
Young S</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2001 Dec;20(8):7-13.
|
||
doi: 10.1891/0730-0832.20.8.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12144107" target="_blank">12144107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9781914">Klippel-Trenaunay syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry SA,
|
||
Peterson C,
|
||
Mize W,
|
||
Bloom K,
|
||
Zachary C,
|
||
Blasco P,
|
||
Hunter D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Oct 2;79(4):319-26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9781914" target="_blank">9781914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%208%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 (486)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37115326">Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saibene AM,
|
||
Rosso C,
|
||
Felisati G,
|
||
Pignataro L,
|
||
Schindler A,
|
||
Ghilardi G,
|
||
Colletti G,
|
||
Gaffuri M,
|
||
Mozzanica F</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2023 Aug;280(8):3529-3540.
|
||
Epub 2023 Apr 28
|
||
doi: 10.1007/s00405-023-07991-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37115326" target="_blank">37115326</a><a href="/pmc/articles/PMC10313583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35526176">Efficacy of sirolimus in children with lymphatic malformations of the head and neck.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegand S,
|
||
Dietz A,
|
||
Wichmann G</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2022 Aug;279(8):3801-3810.
|
||
Epub 2022 May 8
|
||
doi: 10.1007/s00405-022-07378-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35526176" target="_blank">35526176</a><a href="/pmc/articles/PMC9249683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34524406">Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maruani A,
|
||
Tavernier E,
|
||
Boccara O,
|
||
Mazereeuw-Hautier J,
|
||
Leducq S,
|
||
Bessis D,
|
||
Guibaud L,
|
||
Vabres P,
|
||
Carmignac V,
|
||
Mallet S,
|
||
Barbarot S,
|
||
Chiaverini C,
|
||
Droitcourt C,
|
||
Bursztejn AC,
|
||
Lengellé C,
|
||
Woillard JB,
|
||
Herbreteau D,
|
||
Le Touze A,
|
||
Joly A,
|
||
Léauté-Labrèze C,
|
||
Powell J,
|
||
Bourgoin H,
|
||
Gissot V,
|
||
Giraudeau B,
|
||
Morel B</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2021 Nov 1;157(11):1289-1298.
|
||
doi: 10.1001/jamadermatol.2021.3459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34524406" target="_blank">34524406</a><a href="/pmc/articles/PMC8444064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29304140">Long term effects of manual lymphatic drainage and active exercises on physical morbidities, lymphoscintigraphy parameters and lymphedema formation in patients operated due to breast cancer: A clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira MMF,
|
||
Gurgel MSC,
|
||
Amorim BJ,
|
||
Ramos CD,
|
||
Derchain S,
|
||
Furlan-Santos N,
|
||
Dos Santos CC,
|
||
Sarian LO</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(1):e0189176.
|
||
Epub 2018 Jan 5
|
||
doi: 10.1371/journal.pone.0189176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29304140" target="_blank">29304140</a><a href="/pmc/articles/PMC5755747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17223879">Taxane-induced scleroderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh M,
|
||
Yanaba K,
|
||
Kobayashi T,
|
||
Nakagawa H</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2007 Feb;156(2):363-7.
|
||
doi: 10.1111/j.1365-2133.2006.07597.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17223879" target="_blank">17223879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%208%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 (225)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29304140">Long term effects of manual lymphatic drainage and active exercises on physical morbidities, lymphoscintigraphy parameters and lymphedema formation in patients operated due to breast cancer: A clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira MMF,
|
||
Gurgel MSC,
|
||
Amorim BJ,
|
||
Ramos CD,
|
||
Derchain S,
|
||
Furlan-Santos N,
|
||
Dos Santos CC,
|
||
Sarian LO</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(1):e0189176.
|
||
Epub 2018 Jan 5
|
||
doi: 10.1371/journal.pone.0189176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29304140" target="_blank">29304140</a><a href="/pmc/articles/PMC5755747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27517358">Vascular Lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jahnke MN</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2016 Aug 1;45(8):e299-305.
|
||
doi: 10.3928/19382359-20160720-08.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27517358" target="_blank">27517358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22266225">Infant ectopic cervical thymus one case report: diagnostic and management difficulties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhaoqiang Z,
|
||
Qingbin Z,
|
||
Lei C,
|
||
Dan C,
|
||
Yu C,
|
||
Wangxiang Y,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/39567195">Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34524406">Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.</a></div>
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Herbreteau D,
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Joly A,
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Powell J,
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<div class="nl"><a target="_blank" href="/pubmed/29304140">Long term effects of manual lymphatic drainage and active exercises on physical morbidities, lymphoscintigraphy parameters and lymphedema formation in patients operated due to breast cancer: A clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira MMF,
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Gurgel MSC,
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Amorim BJ,
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Ramos CD,
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Derchain S,
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Sarian LO</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/27682988">Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Unolt M,
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DiCairano L,
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Schlechtweg K,
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Barry J,
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Howell L,
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Kasperski S,
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Nance M,
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Adzick NS,
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2017 Jan;173(1):135-142.
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<span class="bold">PMID: </span><a href="/pubmed/27682988" target="_blank">27682988</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27517358">Vascular Lesions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jahnke MN</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%208%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 (323)</a></div></div>
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|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<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>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/37115326">Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saibene AM,
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Rosso C,
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Felisati G,
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Pignataro L,
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Schindler A,
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Ghilardi G,
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Colletti G,
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Gaffuri M,
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Mozzanica F</span><br />
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<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
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2023 Aug;280(8):3529-3540.
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Epub 2023 Apr 28
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doi: 10.1007/s00405-023-07991-1.
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<span class="bold">PMID: </span><a href="/pubmed/37115326" target="_blank">37115326</a><a href="/pmc/articles/PMC10313583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729052">Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boot E,
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Óskarsdóttir S,
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Loo JCY,
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Crowley TB,
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Orchanian-Cheff A,
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Andrade DM,
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Arganbright JM,
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Castelein RM,
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Cserti-Gazdewich C,
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de Reuver S,
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Fiksinski AM,
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Klingberg G,
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Lang AE,
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Mascarenhas MR,
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Moss EM,
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Nowakowska BA,
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Oechslin E,
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Palmer L,
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Repetto GM,
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Reyes NGD,
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Schneider M,
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Silversides C,
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Sullivan KE,
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Swillen A,
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van Amelsvoort TAMJ,
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Van Batavia JP,
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Vingerhoets C,
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McDonald-McGinn DM,
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Bassett AS</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2023 Mar;25(3):100344.
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||
Epub 2023 Feb 2
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doi: 10.1016/j.gim.2022.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729052" target="_blank">36729052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35526176">Efficacy of sirolimus in children with lymphatic malformations of the head and neck.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegand S,
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Dietz A,
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Wichmann G</span><br />
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<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
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2022 Aug;279(8):3801-3810.
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Epub 2022 May 8
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<span class="bold">PMID: </span><a href="/pubmed/35526176" target="_blank">35526176</a><a href="/pmc/articles/PMC9249683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31734224">Sclerotherapy for lymphatic malformations of head and neck: Systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">De Maria L,
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De Sanctis P,
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Balakrishnan K,
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Tollefson M,
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<span class="medgenPMjournal">J Vasc Surg Venous Lymphat Disord</span>
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2020 Jan;8(1):154-164.
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Epub 2019 Nov 14
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||
<span class="bold">PMID: </span><a href="/pubmed/31734224" target="_blank">31734224</a></div>
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||
|
||
<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,
|
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Brankovic M,
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Maksimović Ž,
|
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Davidović L,
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Marković M,
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<span class="medgenPMjournal">Phlebology</span>
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2017 Jul;32(6):371-383.
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Epub 2016 Aug 9
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doi: 10.1177/0268355516664212.
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<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=%22Lymphatic%20malformation%208%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 (20)</a></div></div>
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||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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