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<!--
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UID=1842922
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ConceptID=C5681738
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Syndromic anorectal malformation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842922</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.">C5681738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
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<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=117573">ORPHA117573</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_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Syndromic anorectal malformation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Syndromic anorectal malformation</span><ul><li><span class="TLline"><a href="/medgen/977689" ref="tree=MeSH" title="MedGen record for 22q11.2 deletion syndrome">22q11.2 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1382292" ref="tree=MeSH" title="MedGen record for 46,XX disorder of sex development-anorectal anomalies syndrome">46,XX disorder of sex development-anorectal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930183" ref="tree=MeSH" title="MedGen record for 6q terminal deletion syndrome">6q terminal deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/501192" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome">Axenfeld-Rieger syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419853" ref="tree=MeSH" title="MedGen record for Axial mesodermal dysplasia spectrum">Axial mesodermal dysplasia spectrum</a></span></li><li><span class="TLline"><a href="/medgen/120532" ref="tree=MeSH" title="MedGen record for Baller-Gerold syndrome">Baller-Gerold syndrome</a></span></li><li><span class="TLline"><a href="/medgen/413305" ref="tree=MeSH" title="MedGen record for BNAR syndrome">BNAR syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120543" ref="tree=MeSH" title="MedGen record for Cat eye syndrome">Cat eye syndrome</a></span></li><li><span class="TLline"><a href="/medgen/335822" ref="tree=MeSH" title="MedGen record for Caudal duplication">Caudal duplication</a></span></li><li><span class="TLline"><a href="/medgen/83377" ref="tree=MeSH" title="MedGen record for Cloacal exstrophy">Cloacal exstrophy</a></span></li><li><span class="TLline"><a href="/medgen/56261" ref="tree=MeSH" title="MedGen record for Complete trisomy 13 syndrome">Complete trisomy 13 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/323460" ref="tree=MeSH" title="MedGen record for Currarino triad">Currarino triad</a></span></li><li><span class="TLline"><a href="/medgen/355405" ref="tree=MeSH" title="MedGen record for Distal monosomy 13q">Distal monosomy 13q</a></span></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/693553" ref="tree=MeSH" title="MedGen record for Translocation Down syndrome">Translocation Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/989330" ref="tree=MeSH" title="MedGen record for Mosaic translocation Down syndrome">Mosaic translocation Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/994147" ref="tree=MeSH" title="MedGen record for Reciprocal translocation down syndrome">Reciprocal translocation down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1816520" ref="tree=MeSH" title="MedGen record for Robertsonian translocation Down syndrome">Robertsonian translocation Down syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760825" ref="tree=MeSH" title="MedGen record for Trisomy 21">Trisomy 21</a></span><ul><li><span class="TLline"><a href="/medgen/1624021" ref="tree=MeSH" title="MedGen record for Complete trisomy 21">Complete trisomy 21</a></span></li><li><span class="TLline"><a href="/medgen/419386" ref="tree=MeSH" title="MedGen record for Mosaic trisomy 21">Mosaic trisomy 21</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/301647" ref="tree=MeSH" title="MedGen record for Duane-radial ray syndrome">Duane-radial ray syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826026" ref="tree=MeSH" title="MedGen record for Okihiro syndrome due to 20q13 microdeletion">Okihiro syndrome due to 20q13 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1842838" ref="tree=MeSH" title="MedGen record for Okihiro syndrome due to a point mutation">Okihiro syndrome due to a point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/904613" ref="tree=MeSH" title="MedGen record for Even-plus syndrome">Even-plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163209" ref="tree=MeSH" title="MedGen record for Feingold syndrome">Feingold syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1637716" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 1">Feingold syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/482119" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 2">Feingold syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1768809" ref="tree=MeSH" title="MedGen record for FG syndrome 1">FG syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59798" ref="tree=MeSH" title="MedGen record for Johanson-Blizzard syndrome">Johanson-Blizzard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162897" ref="tree=MeSH" title="MedGen record for Kabuki syndrome">Kabuki syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419068" ref="tree=MeSH" title="MedGen record for Karandikar Maria Kamble syndrome">Karandikar Maria Kamble syndrome</a></span></li><li><span class="TLline"><a href="/medgen/946288" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies">Linear skin defects with multiple congenital anomalies</a></span><ul><li><span class="TLline"><a href="/medgen/163210" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies 1">Linear skin defects with multiple congenital anomalies 1</a></span></li><li><span class="TLline"><a href="/medgen/763835" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies 2">Linear skin defects with multiple congenital anomalies 2</a></span></li><li><span class="TLline"><a href="/medgen/906997" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies 3">Linear skin defects with multiple congenital anomalies 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/443973" ref="tree=MeSH" title="MedGen record for Lowe-Kohn-Cohen syndrome">Lowe-Kohn-Cohen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1650997" ref="tree=MeSH" title="MedGen record for Maternal uniparental disomy of chromosome 16">Maternal uniparental disomy of chromosome 16</a></span></li><li><span class="TLline"><a href="/medgen/931237" ref="tree=MeSH" title="MedGen record for Mayer-Rokitansky-Küster-Hauser syndrome type 2">Mayer-Rokitansky-Küster-Hauser syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/1779113" ref="tree=MeSH" title="MedGen record for Oculogastrointestinal-neurodevelopmental syndrome">Oculogastrointestinal-neurodevelopmental syndrome</a></span></li><li><span class="TLline"><a href="/medgen/946147" ref="tree=MeSH" title="MedGen record for Opitz G/BBB syndrome">Opitz G/BBB syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120540" ref="tree=MeSH" title="MedGen record for Pallister-Killian syndrome">Pallister-Killian syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1374037" ref="tree=MeSH" title="MedGen record for Pelvis syndrome">Pelvis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444146" ref="tree=MeSH" title="MedGen record for Ring chromosome 13">Ring chromosome 13</a></span></li><li><span class="TLline"><a href="/medgen/326949" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia-intellectual disability syndrome">Skeletal dysplasia-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/394424" ref="tree=MeSH" title="MedGen record for Syndactyly-telecanthus-anogenital and renal malformations syndrome">Syndactyly-telecanthus-anogenital and renal malformations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75555" ref="tree=MeSH" title="MedGen record for Townes syndrome">Townes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li><li><span class="TLline"><a href="/medgen/357886" ref="tree=MeSH" title="MedGen record for Ulnar-mammary syndrome">Ulnar-mammary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376400" ref="tree=MeSH" title="MedGen record for VACTERL with hydrocephalus">VACTERL with hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/902479" ref="tree=MeSH" title="MedGen record for VATER association">VATER association</a></span></li></ul></li></ul></div></div></div></div>
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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>
|
||
<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/38759778">Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metry D,
|
||
Copp HL,
|
||
Rialon KL,
|
||
Iacobas I,
|
||
Baselga E,
|
||
Dobyns WB,
|
||
Drolet B,
|
||
Frieden IJ,
|
||
Garzon M,
|
||
Haggstrom A,
|
||
Hanson D,
|
||
Hollenbach L,
|
||
Keppler-Noreuil KM,
|
||
Maheshwari M,
|
||
Siegel DH,
|
||
Waseem S,
|
||
Dias M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2024 Sep;272:114101.
|
||
Epub 2024 May 15
|
||
doi: 10.1016/j.jpeds.2024.114101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38759778" target="_blank">38759778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34911130">Genetic Counseling and Diagnostics in Anorectal Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcelis C,
|
||
Dworschak G,
|
||
de Blaauw I,
|
||
van Rooij IALM</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2021 Dec;31(6):482-491.
|
||
Epub 2021 Dec 15
|
||
doi: 10.1055/s-0041-1740338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34911130" target="_blank">34911130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26498647">Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Hondel D,
|
||
Wijers CH,
|
||
van Bever Y,
|
||
de Klein A,
|
||
Marcelis CL,
|
||
de Blaauw I,
|
||
Sloots CE,
|
||
IJsselstijn H</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2016 Apr;175(4):489-97.
|
||
Epub 2015 Oct 24
|
||
doi: 10.1007/s00431-015-2655-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26498647" target="_blank">26498647</a><a href="/pmc/articles/PMC4799257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(syndromic%20anorectal%20malformation)%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 (14)</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/37195727">Clinical Presentations and Diagnostic Imaging of VACTERL Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonni G,
|
||
Koçak Ç,
|
||
Grisolia G,
|
||
Rizzo G,
|
||
Araujo Júnior E,
|
||
Werner H,
|
||
Ruano R,
|
||
Sepulveda W,
|
||
Bonasoni MP,
|
||
Lituania M;
|
||
“International Perinatology Research Group (IPRG)”</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2023 Aug;42(4):651-674.
|
||
Epub 2023 May 17
|
||
doi: 10.1080/15513815.2023.2206905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195727" target="_blank">37195727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34983099">Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi G,
|
||
Je BK,
|
||
Kim YJ</span><br />
|
||
<span class="medgenPMjournal">Korean J Radiol</span>
|
||
2022 Jan;23(1):124-138.
|
||
doi: 10.3348/kjr.2021.0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983099" target="_blank">34983099</a><a href="/pmc/articles/PMC8743148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573284">The Role of De Novo Variants in Formation of Human Anorectal Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dworschak GC,
|
||
van Rooij IALM,
|
||
Reutter HM</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 24;12(9)
|
||
doi: 10.3390/genes12091298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573284" target="_blank">34573284</a><a href="/pmc/articles/PMC8466114" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31784293">Feeding problems and gastrointestinal diseases in Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ravel A,
|
||
Mircher C,
|
||
Rebillat AS,
|
||
Cieuta-Walti C,
|
||
Megarbane A</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2020 Jan;27(1):53-60.
|
||
Epub 2019 Nov 26
|
||
doi: 10.1016/j.arcped.2019.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31784293" target="_blank">31784293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20593997">Tethered cord syndrome: a review of the literature from embryology to adult presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hertzler DA 2nd,
|
||
DePowell JJ,
|
||
Stevenson CB,
|
||
Mangano FT</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2010 Jul;29(1):E1.
|
||
doi: 10.3171/2010.3.FOCUS1079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20593997" target="_blank">20593997</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20anorectal%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 (143)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195727">Clinical Presentations and Diagnostic Imaging of VACTERL Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonni G,
|
||
Koçak Ç,
|
||
Grisolia G,
|
||
Rizzo G,
|
||
Araujo Júnior E,
|
||
Werner H,
|
||
Ruano R,
|
||
Sepulveda W,
|
||
Bonasoni MP,
|
||
Lituania M;
|
||
“International Perinatology Research Group (IPRG)”</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2023 Aug;42(4):651-674.
|
||
Epub 2023 May 17
|
||
doi: 10.1080/15513815.2023.2206905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195727" target="_blank">37195727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34983099">Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi G,
|
||
Je BK,
|
||
Kim YJ</span><br />
|
||
<span class="medgenPMjournal">Korean J Radiol</span>
|
||
2022 Jan;23(1):124-138.
|
||
doi: 10.3348/kjr.2021.0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983099" target="_blank">34983099</a><a href="/pmc/articles/PMC8743148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34419524">Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez Bandera AI,
|
||
Sebaratnam DF,
|
||
Wargon O,
|
||
Wong LF</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2021 Dec;85(6):1379-1392.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1016/j.jaad.2021.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34419524" target="_blank">34419524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33836786">Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dworschak GC,
|
||
Reutter HM,
|
||
Ludwig M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Apr 9;16(1):167.
|
||
doi: 10.1186/s13023-021-01799-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33836786" target="_blank">33836786</a><a href="/pmc/articles/PMC8034116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29750290">Neonatal Intestinal Obstruction Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vargas MG,
|
||
Miguel-Sardaneta ML,
|
||
Rosas-Téllez M,
|
||
Pereira-Reyes D,
|
||
Justo-Janeiro JM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2018 May 1;47(5):e220-e225.
|
||
doi: 10.3928/19382359-20180425-02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29750290" target="_blank">29750290</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20anorectal%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 (210)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36404183">Safety and Feasibility of Indocyanine Green Fluorescence Angiography in Pediatric Gastrointestinal Surgery: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breuking EA,
|
||
van Varsseveld OC,
|
||
Harms M,
|
||
Tytgat SHAJ,
|
||
Hulscher JBF,
|
||
Ruiterkamp J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2023 Aug;58(8):1534-1542.
|
||
Epub 2022 Oct 24
|
||
doi: 10.1016/j.jpedsurg.2022.10.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36404183" target="_blank">36404183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35899573">Primary renal aspergillosis in a newborn: a case report and review of the literature on children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maquera-Afaray J,
|
||
Luna-Vilchez M,
|
||
Portillo-Alvarez D,
|
||
López JW</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2022;64(3):580-584.
|
||
doi: 10.24953/turkjped.2021.796.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35899573" target="_blank">35899573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35842394">Risk factors for end stage renal disease in children with anorectal malformation and outcome comparison to children with isolated urological anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duci M,
|
||
Fascetti Leon F,
|
||
Castagnetti M,
|
||
Benetti E,
|
||
Meneghesso D,
|
||
Gaspari T,
|
||
Gamba P,
|
||
De Corti F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2022 Dec;18(6):799.e1-799.e5.
|
||
Epub 2022 Jun 24
|
||
doi: 10.1016/j.jpurol.2022.06.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842394" target="_blank">35842394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33199058">Enema-Induced spastic left colon syndrome: An unintended consequence of chronic enema use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peña A,
|
||
De La Torre L,
|
||
Belkind-Gerson J,
|
||
Lovell M,
|
||
Ketzer J,
|
||
Bealer J,
|
||
Bischoff A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2021 Feb;56(2):424-428.
|
||
Epub 2020 Oct 31
|
||
doi: 10.1016/j.jpedsurg.2020.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33199058" target="_blank">33199058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16914360">Burns caused by fan heater used for managing post-operative hypothermia in a premature neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wankhede AG,
|
||
Dongre AP,
|
||
Sariya DR</span><br />
|
||
<span class="medgenPMjournal">J Forensic Leg Med</span>
|
||
2007 Jul;14(5):289-92.
|
||
Epub 2006 Aug 17
|
||
doi: 10.1016/j.jcfm.2006.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16914360" target="_blank">16914360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20anorectal%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30580483">PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siegel DH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Dec;178(4):407-413.
|
||
doi: 10.1002/ajmg.c.31659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30580483" target="_blank">30580483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25770365">Transition of care in pediatric surgical patients with complex gastrointestinal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muise ED,
|
||
Cowles RA</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2015 Apr;24(2):65-8.
|
||
Epub 2015 Jan 9
|
||
doi: 10.1053/j.sempedsurg.2015.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770365" target="_blank">25770365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14663834">Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Caignec C,
|
||
Winer N,
|
||
Boceno M,
|
||
Delnatte C,
|
||
Podevin G,
|
||
Liet JM,
|
||
Quere MP,
|
||
Joubert M,
|
||
Rival JM</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Dec 15;23(12):981-4.
|
||
doi: 10.1002/pd.742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14663834" target="_blank">14663834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11101025">Anorectal malformations and Down's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianca S,
|
||
Ettore G</span><br />
|
||
<span class="medgenPMjournal">Paediatr Perinat Epidemiol</span>
|
||
2000 Oct;14(4):372.
|
||
doi: 10.1046/j.1365-3016.2000.00282.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11101025" target="_blank">11101025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8817437">Accessory scrotum and anorectal malformation associated with "pseudo" prune belly in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoshany G,
|
||
Gottfied E,
|
||
Bar-Maor JA</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
1996 May-Jun;16(3 Pt 1):224-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8817437" target="_blank">8817437</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20anorectal%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 (83)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36607405">Selection of operative approach in children with Currarino syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pang W,
|
||
Chen Y,
|
||
Wang K,
|
||
Zhang D,
|
||
Qi X,
|
||
Wu D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2023 Jan 6;39(1):72.
|
||
doi: 10.1007/s00383-022-05345-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36607405" target="_blank">36607405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36062518">Clinical and genetic approach in the characterization of newborns with anorectal malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierz IAM,
|
||
Piro E,
|
||
Giuffrè M,
|
||
Pinello G,
|
||
Angelini A,
|
||
Antona V,
|
||
Cimador M,
|
||
Corsello G</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(23):4513-4520.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1080/14767058.2020.1854213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36062518" target="_blank">36062518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33836786">Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dworschak GC,
|
||
Reutter HM,
|
||
Ludwig M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Apr 9;16(1):167.
|
||
doi: 10.1186/s13023-021-01799-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33836786" target="_blank">33836786</a><a href="/pmc/articles/PMC8034116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16847205">PELVIS Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girard C,
|
||
Bigorre M,
|
||
Guillot B,
|
||
Bessis D</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2006 Jul;142(7):884-8.
|
||
doi: 10.1001/archderm.142.7.884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16847205" target="_blank">16847205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14663834">Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Caignec C,
|
||
Winer N,
|
||
Boceno M,
|
||
Delnatte C,
|
||
Podevin G,
|
||
Liet JM,
|
||
Quere MP,
|
||
Joubert M,
|
||
Rival JM</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Dec 15;23(12):981-4.
|
||
doi: 10.1002/pd.742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14663834" target="_blank">14663834</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20anorectal%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 (65)</a></div></div>
|
||
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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="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36404183">Safety and Feasibility of Indocyanine Green Fluorescence Angiography in Pediatric Gastrointestinal Surgery: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breuking EA,
|
||
van Varsseveld OC,
|
||
Harms M,
|
||
Tytgat SHAJ,
|
||
Hulscher JBF,
|
||
Ruiterkamp J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2023 Aug;58(8):1534-1542.
|
||
Epub 2022 Oct 24
|
||
doi: 10.1016/j.jpedsurg.2022.10.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36404183" target="_blank">36404183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33260808">Caudal Duplication Syndrome Systematic Review-A Need for Better Multidisciplinary Surgical Approach and Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radu-Iulian S,
|
||
Adelaida A,
|
||
Dan-Alexandru I,
|
||
Monica I,
|
||
Dragos S,
|
||
Florentina TL,
|
||
Cătălin C</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2020 Nov 27;56(12)
|
||
doi: 10.3390/medicina56120650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33260808" target="_blank">33260808</a><a href="/pmc/articles/PMC7759832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31552492">Concurrent Hirschsprung's disease and anorectal malformation: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura H,
|
||
Puri P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2020 Jan;36(1):21-24.
|
||
Epub 2019 Sep 24
|
||
doi: 10.1007/s00383-019-04580-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31552492" target="_blank">31552492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23948812">Association of Hirschsprung's disease and anorectal malformation: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hofmann AD,
|
||
Puri P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2013 Sep;29(9):913-7.
|
||
doi: 10.1007/s00383-013-3352-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23948812" target="_blank">23948812</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndromic%20anorectal%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 (4)</a></div></div>
|
||
</div>
|
||
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=117573" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Syndromic%20anorectal%20malformation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d318b8cde49f3df7ca3394">Syndromic anorectal malformation</a>
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