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<!--
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UID=335428
|
||
ConceptID=C1846460
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the outer ear</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335428</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.">C1846460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>External ear malformation</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000356">HP:0000356</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An abnormality of the external ear. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846460[DISCUI]&test_type=Clinical" ref="ncbi_uid=335428">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335428" ref="ncbi_uid=335428">V</a></span></span><span class="TLline">Abnormality of the outer ear</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/75618" ref="tree=MeSH" title="MedGen record for Ear malformation">Ear malformation</a></span><ul><li><span class="TLline"><a href="/medgen/1640667" ref="tree=MeSH" title="MedGen record for Abnormal ear morphology">Abnormal ear morphology</a></span><ul><li><span class="matched_ds">Abnormality of the outer ear</span><ul><li><span class="TLline"><a href="/medgen/867433" ref="tree=MeSH" title="MedGen record for Abnormal auditory canal morphology">Abnormal auditory canal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/78613" ref="tree=MeSH" title="MedGen record for Atresia of the external auditory canal">Atresia of the external auditory canal</a></span><ul><li><span class="TLline"><a href="/medgen/868049" ref="tree=MeSH" title="MedGen record for Cutaneous atresia of the external auditory canal">Cutaneous atresia of the external auditory canal</a></span></li><li><span class="TLline"><a href="/medgen/868048" ref="tree=MeSH" title="MedGen record for Osseous atresia of the external auditory canal">Osseous atresia of the external auditory canal</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/901975" ref="tree=MeSH" title="MedGen record for Cerumen abnormality">Cerumen abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/901353" ref="tree=MeSH" title="MedGen record for Abnormal cerumen color">Abnormal cerumen color</a></span></li><li><span class="TLline"><a href="/medgen/881607" ref="tree=MeSH" title="MedGen record for Excessive cerumen">Excessive cerumen</a></span></li><li><span class="TLline"><a href="/medgen/507837" ref="tree=MeSH" title="MedGen record for Impacted cerumen">Impacted cerumen</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10505" ref="tree=MeSH" title="MedGen record for Otitis externa">Otitis externa</a></span><ul><li><span class="TLline"><a href="/medgen/7070" ref="tree=MeSH" title="MedGen record for Infective otitis externa">Infective otitis externa</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140758" ref="tree=MeSH" title="MedGen record for Stenosis of the external auditory canal">Stenosis of the external auditory canal</a></span><ul><li><span class="TLline"><a href="/medgen/868047" ref="tree=MeSH" title="MedGen record for Cutaneous stenosis of the external auditory canal">Cutaneous stenosis of the external auditory canal</a></span></li><li><span class="TLline"><a href="/medgen/868046" ref="tree=MeSH" title="MedGen record for Osseous stenosis of the external auditory canal">Osseous stenosis of the external auditory canal</a></span></li><li><span class="TLline"><a href="/medgen/339530" ref="tree=MeSH" title="MedGen record for Slit-like opening of the exterior auditory meatus">Slit-like opening of the exterior auditory meatus</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/167800" ref="tree=MeSH" title="MedGen record for Abnormal pinna morphology">Abnormal pinna morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867037" ref="tree=MeSH" title="MedGen record for Abnormal antihelix morphology">Abnormal antihelix morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866837" ref="tree=MeSH" title="MedGen record for Abnormality of inferior crus of antihelix">Abnormality of inferior crus of antihelix</a></span></li><li><span class="TLline"><a href="/medgen/869028" ref="tree=MeSH" title="MedGen record for Abnormality of stem of antihelix">Abnormality of stem of antihelix</a></span></li><li><span class="TLline"><a href="/medgen/866836" ref="tree=MeSH" title="MedGen record for Abnormality of superior crus of antihelix">Abnormality of superior crus of antihelix</a></span></li><li><span class="TLline"><a href="/medgen/869031" ref="tree=MeSH" title="MedGen record for Absent antihelix">Absent antihelix</a></span></li><li><span class="TLline"><a href="/medgen/869030" ref="tree=MeSH" title="MedGen record for Additional crus of antihelix">Additional crus of antihelix</a></span></li><li><span class="TLline"><a href="/medgen/869029" ref="tree=MeSH" title="MedGen record for Angulated antihelix">Angulated antihelix</a></span></li><li><span class="TLline"><a href="/medgen/866843" ref="tree=MeSH" title="MedGen record for Antihelical shelf">Antihelical shelf</a></span></li><li><span class="TLline"><a href="/medgen/867036" ref="tree=MeSH" title="MedGen record for Hypoplasia of the antihelix">Hypoplasia of the antihelix</a></span></li><li><span class="TLline"><a href="/medgen/335147" ref="tree=MeSH" title="MedGen record for Prominent antihelix">Prominent antihelix</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1813046" ref="tree=MeSH" title="MedGen record for Abnormal antitragus morphology">Abnormal antitragus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869026" ref="tree=MeSH" title="MedGen record for Absent antitragus">Absent antitragus</a></span></li><li><span class="TLline"><a href="/medgen/866833" ref="tree=MeSH" title="MedGen record for Bifid antitragus">Bifid antitragus</a></span></li><li><span class="TLline"><a href="/medgen/869027" ref="tree=MeSH" title="MedGen record for Everted antitragus">Everted antitragus</a></span></li><li><span class="TLline"><a href="/medgen/369349" ref="tree=MeSH" title="MedGen record for Prominent antitragus">Prominent antitragus</a></span></li><li><span class="TLline"><a href="/medgen/866832" ref="tree=MeSH" title="MedGen record for Underdeveloped antitragus">Underdeveloped antitragus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867434" ref="tree=MeSH" title="MedGen record for Abnormal earlobe morphology">Abnormal earlobe morphology</a></span><ul><li><span class="TLline"><a href="/medgen/343677" ref="tree=MeSH" title="MedGen record for Anterior creases of earlobe">Anterior creases of earlobe</a></span></li><li><span class="TLline"><a href="/medgen/342091" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the earlobes">Aplasia/Hypoplasia of the earlobes</a></span></li><li><span class="TLline"><a href="/medgen/867017" ref="tree=MeSH" title="MedGen record for Attached earlobe">Attached earlobe</a></span></li><li><span class="TLline"><a href="/medgen/869023" ref="tree=MeSH" title="MedGen record for Cleft earlobe">Cleft earlobe</a></span></li><li><span class="TLline"><a href="/medgen/369493" ref="tree=MeSH" title="MedGen record for Congenital earlobe sinuses">Congenital earlobe sinuses</a></span></li><li><span class="TLline"><a href="/medgen/1621631" ref="tree=MeSH" title="MedGen record for Diagonal earlobe crease">Diagonal earlobe crease</a></span></li><li><span class="TLline"><a href="/medgen/866823" ref="tree=MeSH" title="MedGen record for Forward facing earlobe">Forward facing earlobe</a></span></li><li><span class="TLline"><a href="/medgen/334979" ref="tree=MeSH" title="MedGen record for Large earlobe">Large earlobe</a></span></li><li><span class="TLline"><a href="/medgen/1612311" ref="tree=MeSH" title="MedGen record for Linear earlobe crease">Linear earlobe crease</a></span></li><li><span class="TLline"><a href="/medgen/344655" ref="tree=MeSH" title="MedGen record for Uplifted earlobe">Uplifted earlobe</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344782" ref="tree=MeSH" title="MedGen record for Abnormal helix morphology">Abnormal helix morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1617534" ref="tree=MeSH" title="MedGen record for Abnormal incisura morphology">Abnormal incisura morphology</a></span></li><li><span class="TLline"><a href="/medgen/373485" ref="tree=MeSH" title="MedGen record for Abnormally folded helix">Abnormally folded helix</a></span></li><li><span class="TLline"><a href="/medgen/867018" ref="tree=MeSH" title="MedGen record for Cleft helix">Cleft helix</a></span></li><li><span class="TLline"><a href="/medgen/866824" ref="tree=MeSH" title="MedGen record for Crimped helix">Crimped helix</a></span></li><li><span class="TLline"><a href="/medgen/866825" ref="tree=MeSH" title="MedGen record for Darwin tubercle of helix">Darwin tubercle of helix</a></span></li><li><span class="TLline"><a href="/medgen/866822" ref="tree=MeSH" title="MedGen record for Discontinuous ascending root of helix">Discontinuous ascending root of helix</a></span></li><li><span class="TLline"><a href="/medgen/334588" ref="tree=MeSH" title="MedGen record for Hypoplastic helices">Hypoplastic helices</a></span></li><li><span class="TLline"><a href="/medgen/870220" ref="tree=MeSH" title="MedGen record for Long hairs growing from helix of pinna">Long hairs growing from helix of pinna</a></span></li><li><span class="TLline"><a href="/medgen/866605" ref="tree=MeSH" title="MedGen record for Pointed helix">Pointed helix</a></span></li><li><span class="TLline"><a href="/medgen/867181" ref="tree=MeSH" title="MedGen record for Posterior helix pit">Posterior helix pit</a></span></li><li><span class="TLline"><a href="/medgen/892712" ref="tree=MeSH" title="MedGen record for Prominent ear helix">Prominent ear helix</a></span></li><li><span class="TLline"><a href="/medgen/868279" ref="tree=MeSH" title="MedGen record for Squared superior portion of helix">Squared superior portion of helix</a></span></li><li><span class="TLline"><a href="/medgen/325240" ref="tree=MeSH" title="MedGen record for Thickened helices">Thickened helices</a></span></li><li><span class="TLline"><a href="/medgen/869736" ref="tree=MeSH" title="MedGen record for Thin ear helix">Thin ear helix</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867436" ref="tree=MeSH" title="MedGen record for Abnormal location of ears">Abnormal location of ears</a></span><ul><li><span class="TLline"><a href="/medgen/384047" ref="tree=MeSH" title="MedGen record for Anteverted ears">Anteverted ears</a></span></li><li><span class="TLline"><a href="/medgen/257908" ref="tree=MeSH" title="MedGen record for Asymmetry of the ears">Asymmetry of the ears</a></span></li><li><span class="TLline"><a href="/medgen/65980" ref="tree=MeSH" title="MedGen record for Low-set ears">Low-set ears</a></span></li><li><span class="TLline"><a href="/medgen/96566" ref="tree=MeSH" title="MedGen record for Posteriorly rotated ears">Posteriorly rotated ears</a></span></li><li><span class="TLline"><a href="/medgen/340482" ref="tree=MeSH" title="MedGen record for Superiorly displaced ears">Superiorly displaced ears</a></span></li><li><span class="TLline"><a href="/medgen/451028" ref="tree=MeSH" title="MedGen record for Synotia">Synotia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868040" ref="tree=MeSH" title="MedGen record for Abnormal number of tubercles">Abnormal number of tubercles</a></span></li><li><span class="TLline"><a href="/medgen/869734" ref="tree=MeSH" title="MedGen record for Abnormal tragus morphology">Abnormal tragus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869733" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the tragus">Aplasia/Hypoplasia of the tragus</a></span></li><li><span class="TLline"><a href="/medgen/866819" ref="tree=MeSH" title="MedGen record for Bifid tragus">Bifid tragus</a></span></li><li><span class="TLline"><a href="/medgen/866818" ref="tree=MeSH" title="MedGen record for Duplicated tragus">Duplicated tragus</a></span></li><li><span class="TLline"><a href="/medgen/866817" ref="tree=MeSH" title="MedGen record for Prominent tragus">Prominent tragus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868280" ref="tree=MeSH" title="MedGen record for Auricular pit">Auricular pit</a></span></li><li><span class="TLline"><a href="/medgen/868282" ref="tree=MeSH" title="MedGen record for Auricular tag">Auricular tag</a></span></li><li><span class="TLline"><a href="/medgen/1864270" ref="tree=MeSH" title="MedGen record for Auriculitis">Auriculitis</a></span></li><li><span class="TLline"><a href="/medgen/869737" ref="tree=MeSH" title="MedGen record for Crumpled ear">Crumpled ear</a></span></li><li><span class="TLline"><a href="/medgen/488992" ref="tree=MeSH" title="MedGen record for Cryptotia">Cryptotia</a></span><ul><li><span class="TLline"><a href="/medgen/869025" ref="tree=MeSH" title="MedGen record for Type I cryptotia">Type I cryptotia</a></span></li><li><span class="TLline"><a href="/medgen/869024" ref="tree=MeSH" title="MedGen record for Type II cryptotia">Type II cryptotia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335186" ref="tree=MeSH" title="MedGen record for Cupped ear">Cupped ear</a></span></li><li><span class="TLline"><a href="/medgen/869294" ref="tree=MeSH" title="MedGen record for Cystic lesions of the pinnae">Cystic lesions of the pinnae</a></span></li><li><span class="TLline"><a href="/medgen/866569" ref="tree=MeSH" title="MedGen record for Extra concha fold">Extra concha fold</a></span></li><li><span class="TLline"><a href="/medgen/341738" ref="tree=MeSH" title="MedGen record for Hypertrophic auricular cartilage">Hypertrophic auricular cartilage</a></span></li><li><span class="TLline"><a href="/medgen/338515" ref="tree=MeSH" title="MedGen record for Long ear">Long ear</a></span></li><li><span class="TLline"><a href="/medgen/82747" ref="tree=MeSH" title="MedGen record for Lop ear">Lop ear</a></span></li><li><span class="TLline"><a href="/medgen/488785" ref="tree=MeSH" title="MedGen record for Macrotia">Macrotia</a></span><ul><li><span class="TLline"><a href="/medgen/814733" ref="tree=MeSH" title="MedGen record for Large fleshy ears">Large fleshy ears</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892775" ref="tree=MeSH" title="MedGen record for Mozart ear">Mozart ear</a></span></li><li><span class="TLline"><a href="/medgen/451025" ref="tree=MeSH" title="MedGen record for Polyotia">Polyotia</a></span></li><li><span class="TLline"><a href="/medgen/343309" ref="tree=MeSH" title="MedGen record for Protruding ear">Protruding ear</a></span></li><li><span class="TLline"><a href="/medgen/868281" ref="tree=MeSH" title="MedGen record for Quelprud nodule">Quelprud nodule</a></span></li><li><span class="TLline"><a href="/medgen/854772" ref="tree=MeSH" title="MedGen record for Question mark ear">Question mark ear</a></span></li><li><span class="TLline"><a href="/medgen/867574" ref="tree=MeSH" title="MedGen record for Round ear">Round ear</a></span></li><li><span class="TLline"><a href="/medgen/882785" ref="tree=MeSH" title="MedGen record for Satyr ear">Satyr ear</a></span></li><li><span class="TLline"><a href="/medgen/763955" ref="tree=MeSH" title="MedGen record for Short ear">Short ear</a></span></li><li><span class="TLline"><a href="/medgen/140913" ref="tree=MeSH" title="MedGen record for Simple ear">Simple ear</a></span></li><li><span class="TLline"><a href="/medgen/869739" ref="tree=MeSH" title="MedGen record for Thickened ears">Thickened ears</a></span></li><li><span class="TLline"><a href="/medgen/322330" ref="tree=MeSH" title="MedGen record for Unilateral external ear deformity">Unilateral external ear deformity</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_120518"><div><strong>Wildervanck syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120518</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.">C0265239</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120518">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342243"><div><strong>Cryptotia, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342243</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.">C1852455</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342243">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_897984"><div><strong>Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897984</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.">C4225351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/897984">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1385307"><div><strong>Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385307</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.">C4479246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1385307">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1720440"><div><strong>Genitourinary and/or brain malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720440</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.">C5394158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, most commonly involving the brain and/or urogenital systems. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye (strabismus, microphthalmia/anophthalmia) and skeletal abnormalities (kyphoscoliosis, joint contractures) can also be present in affected individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a difference of sex development (DSD) with gonadal dysgenesis associated with ambiguous genitalia or phenotypic female genitalia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1720440">Condition Record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342243" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptotia, familial</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitourinary and/or brain malformation syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wildervanck syndrome</a></div></div>
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</div>
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|
||
<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>
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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/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
|
||
van Dijk EHC,
|
||
Cheung CMG,
|
||
Ohno-Matsui K,
|
||
Lai TYY,
|
||
Koizumi H,
|
||
Larsen M,
|
||
Querques G,
|
||
Downes SM,
|
||
Yzer S,
|
||
Breazzano MP,
|
||
Subhi Y,
|
||
Tadayoni R,
|
||
Priglinger SG,
|
||
Pauleikhoff LJB,
|
||
Lange CAK,
|
||
Loewenstein A,
|
||
Diederen RMH,
|
||
Schlingemann RO,
|
||
Hoyng CB,
|
||
Chhablani JK,
|
||
Holz FG,
|
||
Sivaprasad S,
|
||
Lotery AJ,
|
||
Yannuzzi LA,
|
||
Freund KB,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2024 Jul;101:101236.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.preteyeres.2024.101236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301969" target="_blank">38301969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35138954">Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld RM,
|
||
Tunkel DE,
|
||
Schwartz SR,
|
||
Anne S,
|
||
Bishop CE,
|
||
Chelius DC,
|
||
Hackell J,
|
||
Hunter LL,
|
||
Keppel KL,
|
||
Kim AH,
|
||
Kim TW,
|
||
Levine JM,
|
||
Maksimoski MT,
|
||
Moore DJ,
|
||
Preciado DA,
|
||
Raol NP,
|
||
Vaughan WK,
|
||
Walker EA,
|
||
Monjur TM</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2022 Feb;166(1_suppl):S1-S55.
|
||
doi: 10.1177/01945998211065662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35138954" target="_blank">35138954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28736343">TFOS DEWS II Management and Therapy Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones L,
|
||
Downie LE,
|
||
Korb D,
|
||
Benitez-Del-Castillo JM,
|
||
Dana R,
|
||
Deng SX,
|
||
Dong PN,
|
||
Geerling G,
|
||
Hida RY,
|
||
Liu Y,
|
||
Seo KY,
|
||
Tauber J,
|
||
Wakamatsu TH,
|
||
Xu J,
|
||
Wolffsohn JS,
|
||
Craig JP</span><br />
|
||
<span class="medgenPMjournal">Ocul Surf</span>
|
||
2017 Jul;15(3):575-628.
|
||
Epub 2017 Jul 20
|
||
doi: 10.1016/j.jtos.2017.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28736343" target="_blank">28736343</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20outer%20ear)%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 (105)</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/28728734">Facial Cosmetic Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perenack J,
|
||
Haggerty C,
|
||
Webb D,
|
||
Will M</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2017 Aug;75(8S):e302-e323.
|
||
doi: 10.1016/j.joms.2017.04.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28728734" target="_blank">28728734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135340">Etiology and genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsunaga T</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2014;75:2-8.
|
||
Epub 2013 Oct 11
|
||
doi: 10.1159/000350491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24135340" target="_blank">24135340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15165194">The preauricular sinus: a review of its clinical presentation, treatment, and associations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheinfeld NS,
|
||
Silverberg NB,
|
||
Weinberg JM,
|
||
Nozad V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2004 May-Jun;21(3):191-6.
|
||
doi: 10.1111/j.0736-8046.2004.21301.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15165194" target="_blank">15165194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11465001">Otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emery BE</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2001 Feb;9(1):147-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11465001" target="_blank">11465001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/699495">The Stenstrom otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stenstrom SJ,
|
||
Heftner J</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1978 Jul;5(3):465-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/699495" target="_blank">699495</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20outer%20ear%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 (1338)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33795464">Ear Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatti SL,
|
||
Daly LT,
|
||
Mejia M,
|
||
Perlyn C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2021 Apr;42(4):180-188.
|
||
doi: 10.1542/pir.2019-0167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33795464" target="_blank">33795464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30920067">Auricular reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cubitt JJ,
|
||
Chang LY,
|
||
Liang D,
|
||
Vandervord J,
|
||
Marucci DD</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2019 May;55(5):512-517.
|
||
Epub 2019 Mar 28
|
||
doi: 10.1111/jpc.14444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30920067" target="_blank">30920067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24848399">Branchio-oto-renal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jalil J,
|
||
Basheer F,
|
||
Shafique M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2014 May;24(5):367-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24848399" target="_blank">24848399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10051003">Townes-Brocks syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Powell CM,
|
||
Michaelis RC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1999 Feb;36(2):89-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10051003" target="_blank">10051003</a><a href="/pmc/articles/PMC1734298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14071056">OCULOAURICULOVERTEBRAL DYSPLASIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GORLIN RJ,
|
||
JUE KL,
|
||
JACOBSEN U,
|
||
GOLDSCHMIDT E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1963 Nov;63:991-9.
|
||
doi: 10.1016/s0022-3476(63)80233-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14071056" target="_blank">14071056</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20outer%20ear%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 (1254)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
|
||
van Dijk EHC,
|
||
Cheung CMG,
|
||
Ohno-Matsui K,
|
||
Lai TYY,
|
||
Koizumi H,
|
||
Larsen M,
|
||
Querques G,
|
||
Downes SM,
|
||
Yzer S,
|
||
Breazzano MP,
|
||
Subhi Y,
|
||
Tadayoni R,
|
||
Priglinger SG,
|
||
Pauleikhoff LJB,
|
||
Lange CAK,
|
||
Loewenstein A,
|
||
Diederen RMH,
|
||
Schlingemann RO,
|
||
Hoyng CB,
|
||
Chhablani JK,
|
||
Holz FG,
|
||
Sivaprasad S,
|
||
Lotery AJ,
|
||
Yannuzzi LA,
|
||
Freund KB,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2024 Jul;101:101236.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.preteyeres.2024.101236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301969" target="_blank">38301969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28736343">TFOS DEWS II Management and Therapy Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones L,
|
||
Downie LE,
|
||
Korb D,
|
||
Benitez-Del-Castillo JM,
|
||
Dana R,
|
||
Deng SX,
|
||
Dong PN,
|
||
Geerling G,
|
||
Hida RY,
|
||
Liu Y,
|
||
Seo KY,
|
||
Tauber J,
|
||
Wakamatsu TH,
|
||
Xu J,
|
||
Wolffsohn JS,
|
||
Craig JP</span><br />
|
||
<span class="medgenPMjournal">Ocul Surf</span>
|
||
2017 Jul;15(3):575-628.
|
||
Epub 2017 Jul 20
|
||
doi: 10.1016/j.jtos.2017.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28736343" target="_blank">28736343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27604644">Otitis media.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schilder AG,
|
||
Chonmaitree T,
|
||
Cripps AW,
|
||
Rosenfeld RM,
|
||
Casselbrant ML,
|
||
Haggard MP,
|
||
Venekamp RP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Sep 8;2(1):16063.
|
||
doi: 10.1038/nrdp.2016.63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27604644" target="_blank">27604644</a><a href="/pmc/articles/PMC7097351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135366">Hair removal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watanabe T,
|
||
Onomura M,
|
||
Asato H</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2014;75:124-8.
|
||
Epub 2013 Oct 11
|
||
doi: 10.1159/000350981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24135366" target="_blank">24135366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/359217">Microtia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanzer RC</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1978 Jul;5(3):317-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/359217" target="_blank">359217</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20outer%20ear%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 (413)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29153193">Auricular Prostheses in Microtia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Federspil PA</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2018 Feb;26(1):97-104.
|
||
doi: 10.1016/j.fsc.2017.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29153193" target="_blank">29153193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15778913">Incisionless otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fritsch MH</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg</span>
|
||
2004 Nov;20(4):267-70.
|
||
doi: 10.1055/s-2005-865384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15778913" target="_blank">15778913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11465001">Otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emery BE</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2001 Feb;9(1):147-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11465001" target="_blank">11465001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/699495">The Stenstrom otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stenstrom SJ,
|
||
Heftner J</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1978 Jul;5(3):465-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/699495" target="_blank">699495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/359217">Microtia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanzer RC</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
1978 Jul;5(3):317-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/359217" target="_blank">359217</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20outer%20ear%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 (668)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38731925">Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song W,
|
||
Xia X,
|
||
Fan Y,
|
||
Zhang B,
|
||
Chen X</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Apr 26;25(9)
|
||
doi: 10.3390/ijms25094707.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38731925" target="_blank">38731925</a><a href="/pmc/articles/PMC11083823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38113167">Relationship between congenital malformation of the outer ear and hearing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
|
||
Han Z,
|
||
Li Y,
|
||
Lin J,
|
||
Zou Y</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2023 Nov;143(sup1):S45-S48.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/00016489.2023.2281504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38113167" target="_blank">38113167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29153193">Auricular Prostheses in Microtia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Federspil PA</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2018 Feb;26(1):97-104.
|
||
doi: 10.1016/j.fsc.2017.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29153193" target="_blank">29153193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17223397">Posterior helical pits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prescott TE,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2007 Mar-Apr;50(2):159-61.
|
||
Epub 2006 Nov 30
|
||
doi: 10.1016/j.ejmg.2006.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17223397" target="_blank">17223397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15778913">Incisionless otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fritsch MH</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg</span>
|
||
2004 Nov;20(4):267-70.
|
||
doi: 10.1055/s-2005-865384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15778913" target="_blank">15778913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20outer%20ear%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 (764)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38710037">A Systematic Review of the Application of Computational Technology in Microtia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou J,
|
||
Cui R,
|
||
Lin L</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2024 Jun 1;35(4):1214-1218.
|
||
Epub 2024 May 7
|
||
doi: 10.1097/SCS.0000000000010210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38710037" target="_blank">38710037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36041065">Management of Orofacial Manifestations of Juvenile Idiopathic Arthritis: Interdisciplinary Consensus-Based Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoustrup P,
|
||
Resnick CM,
|
||
Abramowicz S,
|
||
Pedersen TK,
|
||
Michelotti A,
|
||
Küseler A,
|
||
Koos B,
|
||
Verna C,
|
||
Nordal EB,
|
||
Granquist EJ,
|
||
Halbig JM,
|
||
Kristensen KD,
|
||
Kaban LB,
|
||
Arvidsson LZ,
|
||
Spiegel L,
|
||
Stoll ML,
|
||
Lerman MA,
|
||
Glerup M,
|
||
Defabianis P,
|
||
Frid P,
|
||
Alstergren P,
|
||
Cron RQ,
|
||
Ringold S,
|
||
Nørholt SE,
|
||
Peltomaki T,
|
||
Larheim TA,
|
||
Herlin T,
|
||
Peacock ZS,
|
||
Kellenberger CJ,
|
||
Twilt M;
|
||
Temporomandibular Joint Juvenile Arthritis Working Group</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheumatol</span>
|
||
2023 Jan;75(1):4-14.
|
||
Epub 2022 Nov 25
|
||
doi: 10.1002/art.42338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36041065" target="_blank">36041065</a><a href="/pmc/articles/PMC10100353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35878629">Otologic Manifestations of Psoriasis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeong SS,
|
||
Shih MC,
|
||
Rizk HG,
|
||
Lambert PR</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2022 Aug 1;43(7):742-752.
|
||
doi: 10.1097/MAO.0000000000003597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35878629" target="_blank">35878629</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35716418">Noninvasive ear molding in the correction of ear anomalies: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saba ES,
|
||
Mui S,
|
||
Schloegel LJ</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2022 Aug;159:111189.
|
||
Epub 2022 May 25
|
||
doi: 10.1016/j.ijporl.2022.111189.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35716418" target="_blank">35716418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32747182">The psychological, social and educational impact of prominent ears: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones ES,
|
||
Gibson JAG,
|
||
Dobbs TD,
|
||
Whitaker IS</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2020 Dec;73(12):2111-2120.
|
||
Epub 2020 May 26
|
||
doi: 10.1016/j.bjps.2020.05.075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32747182" target="_blank">32747182</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20outer%20ear%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 (23)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
||
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1846460%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846460%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1846460%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20outer%20ear" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20outer%20ear)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormality%20of%20the%20outer%20ear%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed/clinical?term=Abnormality%20of%20the%20outer%20ear" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Abnormality%20of%20the%20outer%20ear%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=335428" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1846460[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d55d7a67c23b31e0d1f964">Abnormality of the outer ear</a>
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<div class="tertiary">MedGen</div>
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