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<meta name="keywords" content="C4231418, finding, inner ear 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=906478
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ConceptID=C4231418
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inner ear malformation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906478</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:">C4231418</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></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_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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36274068">Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chanclud J,
|
||
Valence S,
|
||
Perre SV,
|
||
Guilbaud L,
|
||
Moutard ML,
|
||
Jouannic JM,
|
||
Ducou Le Pointe H,
|
||
Blondiaux E,
|
||
Garel C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2023 Mar;53(3):461-469.
|
||
Epub 2022 Oct 24
|
||
doi: 10.1007/s00247-022-05531-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36274068" target="_blank">36274068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36329483">A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Qin M,
|
||
Mao S,
|
||
Mei L,
|
||
Cai X,
|
||
Feng Y,
|
||
He C,
|
||
Song J</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2022 Nov 3;15(1):230.
|
||
doi: 10.1186/s12920-022-01379-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36329483" target="_blank">36329483</a><a href="/pmc/articles/PMC9632049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30762457">Analysis between phenotypes and genotypes of inner ear malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Ding W,
|
||
Chen C,
|
||
Xu B,
|
||
Liu X,
|
||
Bian P,
|
||
Guo Y</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2019 Mar;139(3):223-232.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1080/00016489.2018.1554262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30762457" target="_blank">30762457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22inner%20ear%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 (8)</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/38411671">Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazzi V,
|
||
Fordington S,
|
||
Brown TH,
|
||
Donnelly N,
|
||
Bewick J,
|
||
Ehsani D,
|
||
Pelucchi S,
|
||
Bianchini C,
|
||
Ciorba A,
|
||
Borsetto D</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 Jul;281(7):3397-3421.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1007/s00405-024-08527-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38411671" target="_blank">38411671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35653220">Long-term audiologic outcomes and potential outcome predictors of cochlear implantation in cochlear aplasia with dilated vestibule: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim BJ,
|
||
Jeon H,
|
||
Kim Y,
|
||
Lee SY,
|
||
Han JH,
|
||
Yi N,
|
||
Chung JW,
|
||
Oh SH,
|
||
Choi BY</span><br />
|
||
<span class="medgenPMjournal">Clin Otolaryngol</span>
|
||
2022 Sep;47(5):599-605.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1111/coa.13952.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/27256962">CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27256962">CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vashist S,
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Singh S</span><br />
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<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/27256962" target="_blank">27256962</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inner%20ear%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 (68)</a></div></div>
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</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">
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<div class="nl"><a target="_blank" href="/pubmed/39607757">Current status of pediatric auditory brainstem implantation in inner ear malformations; consensus statement of the Third International Pediatric ABI Meeting.</a></div>
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Marchi R,
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||
Free R,
|
||
Frijns JHM,
|
||
Voelker C,
|
||
Winter M,
|
||
Schrader D,
|
||
Ganguly DH,
|
||
Egra-Dagan D,
|
||
Diab K,
|
||
Dayxes N,
|
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Nanan A,
|
||
Koji R,
|
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Karaosmanoğlu A,
|
||
Bulut EG,
|
||
Verbist B,
|
||
Azadpour M,
|
||
Mandala M,
|
||
Goffi MV,
|
||
Polak M,
|
||
Lee KYS,
|
||
Wilson K,
|
||
Friedmann DR,
|
||
Rajeswaran R,
|
||
Monsanto R,
|
||
Cureoglu S,
|
||
Driver S,
|
||
Bošnjak R,
|
||
Dundar G,
|
||
Eroglu E</span><br />
|
||
<span class="medgenPMjournal">Cochlear Implants Int</span>
|
||
2024 Jul;25(4):316-333.
|
||
Epub 2024 Nov 28
|
||
doi: 10.1080/14670100.2024.2413273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39607757" target="_blank">39607757</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/38411671">Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazzi V,
|
||
Fordington S,
|
||
Brown TH,
|
||
Donnelly N,
|
||
Bewick J,
|
||
Ehsani D,
|
||
Pelucchi S,
|
||
Bianchini C,
|
||
Ciorba A,
|
||
Borsetto D</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 Jul;281(7):3397-3421.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1007/s00405-024-08527-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38411671" target="_blank">38411671</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inner%20ear%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 (2)</a></div></div>
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