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<meta name="keywords" content="C0266589, abnormality of the ear, congenital abnormality, congenital abnormality of ear, congenital anomaly of ear, congenital deformity of ear, congenital malformation of ear, cup ear, ear abnormalities, ear anomalies, ear anomaly, ear malformation, malformation of ear, 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="An abnormality of the ear." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=75618
|
||
ConceptID=C0266589
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the ear</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75618</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:">C0266589</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CUP EAR; Ear malformation</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Malformation of ear (275259005); Congenital abnormality of ear (275259005); Congenital anomaly of ear (275259005); Congenital deformity of ear (275259005); Congenital malformation of ear (275259005)</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:0000598">HP:0000598</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007500" target="_blank">MONDO:0007500</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/128600" target="_blank">128600</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormality of the ear. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_75618"><div><strong>Abnormality of the ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75618</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:">C0266589</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75618">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20ear%22%5BClinical%20Features%5D%20OR%2075618%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the ear</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the ear</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75618" target="_blank" href="/omim/128600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75618" ref="ncbi_uid=75618">V</a></span></span><span class="TLline">Abnormality of the 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="matched_ds">Abnormality of the ear</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="TLline"><a href="/medgen/867435" ref="tree=MeSH" title="MedGen record for Abnormality of the inner ear">Abnormality of the inner ear</a></span><ul><li><span class="TLline"><a href="/medgen/868967" ref="tree=MeSH" title="MedGen record for Abnormal inner ear morphology">Abnormal inner ear morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348799" ref="tree=MeSH" title="MedGen record for Abnormality of the middle ear">Abnormality of the middle ear</a></span><ul><li><span class="TLline"><a href="/medgen/537429" ref="tree=MeSH" title="MedGen record for Abnormal Eustachian tube morphology">Abnormal Eustachian tube morphology</a></span></li><li><span class="TLline"><a href="/medgen/387824" ref="tree=MeSH" title="MedGen record for Abnormal middle ear morphology">Abnormal middle ear morphology</a></span></li><li><span class="TLline"><a href="/medgen/868056" ref="tree=MeSH" title="MedGen record for Abnormal tympanic membrane morphology">Abnormal tympanic membrane morphology</a></span></li><li><span class="TLline"><a href="/medgen/868050" ref="tree=MeSH" title="MedGen record for Abnormality of the round window">Abnormality of the round window</a></span></li><li><span class="TLline"><a href="/medgen/866688" ref="tree=MeSH" title="MedGen record for Abnormality of the vestibular window">Abnormality of the vestibular window</a></span></li><li><span class="TLline"><a href="/medgen/867469" ref="tree=MeSH" title="MedGen record for Functional abnormality of the middle ear">Functional abnormality of the middle ear</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/335428" ref="tree=MeSH" title="MedGen record for Abnormality of the outer ear">Abnormality of the outer ear</a></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></li><li><span class="TLline"><a href="/medgen/167800" ref="tree=MeSH" title="MedGen record for Abnormal pinna morphology">Abnormal pinna morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870193" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the ear">Aplasia/Hypoplasia of the ear</a></span><ul><li><span class="TLline"><a href="/medgen/870192" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the external ear">Aplasia/Hypoplasia of the external ear</a></span></li><li><span class="TLline"><a href="/medgen/867171" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the middle ear">Aplasia/Hypoplasia of the middle ear</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4431" ref="tree=MeSH" title="MedGen record for Neoplasm of the ear">Neoplasm of the ear</a></span><ul><li><span class="TLline"><a href="/medgen/138081" ref="tree=MeSH" title="MedGen record for Benign neoplasm of ear">Benign neoplasm of ear</a></span></li><li><span class="TLline"><a href="/medgen/87606" ref="tree=MeSH" title="MedGen record for External ear neoplasm">External ear neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/418247" ref="tree=MeSH" title="MedGen record for Malignant ear neoplasm">Malignant ear neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/268582" ref="tree=MeSH" title="MedGen record for Neoplasm of the inner ear">Neoplasm of the inner ear</a></span></li><li><span class="TLline"><a href="/medgen/87509" ref="tree=MeSH" title="MedGen record for Neoplasm of the middle ear">Neoplasm of the middle ear</a></span></li><li><span class="TLline"><a href="/medgen/868052" ref="tree=MeSH" title="MedGen record for Neoplasm of the outer ear">Neoplasm of the outer ear</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1631982" ref="tree=MeSH" title="MedGen record for Abnormal ear physiology">Abnormal ear physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1769886" ref="tree=MeSH" title="MedGen record for Absent otoacoustic emissions">Absent otoacoustic emissions</a></span></li><li><span class="TLline"><a href="/medgen/868968" ref="tree=MeSH" title="MedGen record for Functional abnormality of the inner ear">Functional abnormality of the inner ear</a></span><ul><li><span class="TLline"><a href="/medgen/334848" ref="tree=MeSH" title="MedGen record for Abnormal vestibular function">Abnormal vestibular function</a></span></li><li><span class="TLline"><a href="/medgen/9164" ref="tree=MeSH" title="MedGen record for Sensorineural hearing impairment">Sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871365" ref="tree=MeSH" title="MedGen record for Hearing abnormality">Hearing abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/322986" ref="tree=MeSH" title="MedGen record for Abnormal speech discrimination">Abnormal speech discrimination</a></span></li><li><span class="TLline"><a href="/medgen/1864047" ref="tree=MeSH" title="MedGen record for Autophony">Autophony</a></span></li><li><span class="TLline"><a href="/medgen/235586" ref="tree=MeSH" title="MedGen record for Hearing impairment">Hearing impairment</a></span></li><li><span class="TLline"><a href="/medgen/52760" ref="tree=MeSH" title="MedGen record for Tinnitus">Tinnitus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863884" ref="tree=MeSH" title="MedGen record for Rhythmic movements of the tympanic membrane">Rhythmic movements of the tympanic membrane</a></span></li><li><span class="TLline"><a href="/medgen/667205" ref="tree=MeSH" title="MedGen record for Tympanic membrane hypermobility">Tympanic membrane hypermobility</a></span></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_36361"><div><strong>Piebald skin depigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36361</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.">C0080024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/36361">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_65085"><div><strong>Velocardiofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65085</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.">C0220704</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 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65085">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_66320"><div><strong>Cerebrooculofacioskeletal syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66320</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.">C0220722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66320">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75618"><div><strong>Abnormality of the ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75618</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:">C0266589</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of the ear.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75618">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_87435"><div><strong>Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87435</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.">C0342280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87435">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_371596"><div><strong>Cone-rod dystrophy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371596</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.">C1833564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/371596">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331587"><div><strong>Ossified ear cartilages</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331587</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.">C1833791</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/331587">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_333071"><div><strong>Chromosome 8Q12.1-q21.2 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333071</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.">C1838346</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/333071">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374123"><div><strong>Hairy ears, Y-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374123</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.">C1839070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The hairy ears trait consists of long hairs growing from the helix of the pinna; see Dronamraju (1964) and Stern et al. (1964).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374123">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340317"><div><strong>Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340317</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.">C1849401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340317">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376704"><div><strong>Otoonychoperoneal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376704</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.">C1850105</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376704">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_342425"><div><strong>Osteoma of middle ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342425</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.">C1850142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/342425">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_377032"><div><strong>Exchondrosis of pinna, posterior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377032</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.">C1851463</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/377032">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_377546"><div><strong>Ear folding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377546</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.">C1851901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/377546">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343680"><div><strong>Ear antitragus, tag at base of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343680</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.">C1851905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343680">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1676961"><div><strong>Distal arthrogryposis type 2B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676961</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.">C5193014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1676961">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1684759"><div><strong>Blau syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684759</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.">C5201146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1684759">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1808766"><div><strong>Patterson-Stevenson-Fontaine syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808766</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.">C5574964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1808766">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the ear</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blau syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebrooculofacioskeletal syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 8Q12.1-q21.2 deletion syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1676961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal arthrogryposis type 2B1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ear antitragus, tag at base of</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ear folding</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exchondrosis of pinna, posterior</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hairy ears, Y-linked</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ossified ear cartilages</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoma of middle ear</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otoonychoperoneal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patterson-Stevenson-Fontaine syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Piebald skin depigmentation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velocardiofacial syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/34399110">Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Northrup H,
|
||
Aronow ME,
|
||
Bebin EM,
|
||
Bissler J,
|
||
Darling TN,
|
||
de Vries PJ,
|
||
Frost MD,
|
||
Fuchs Z,
|
||
Gosnell ES,
|
||
Gupta N,
|
||
Jansen AC,
|
||
Jóźwiak S,
|
||
Kingswood JC,
|
||
Knilans TK,
|
||
McCormack FX,
|
||
Pounders A,
|
||
Roberds SL,
|
||
Rodriguez-Buritica DF,
|
||
Roth J,
|
||
Sampson JR,
|
||
Sparagana S,
|
||
Thiele EA,
|
||
Weiner HL,
|
||
Wheless JW,
|
||
Towbin AJ,
|
||
Krueger DA;
|
||
International Tuberous Sclerosis Complex Consensus Group</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Oct;123:50-66.
|
||
Epub 2021 Jul 24
|
||
doi: 10.1016/j.pediatrneurol.2021.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399110" target="_blank">34399110</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%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 (494)</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/28840850">Classification and Current Management of Inner Ear Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sennaroğlu L,
|
||
Bajin MD</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2017 Sep 29;34(5):397-411.
|
||
Epub 2017 Aug 25
|
||
doi: 10.4274/balkanmedj.2017.0367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28840850" target="_blank">28840850</a><a href="/pmc/articles/PMC5635626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/1118500">The constricted (cup and lop) ear.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanzer RC</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1975 Apr;55(4):406-15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1118500" target="_blank">1118500</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%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 (5914)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/25171997">Branchial arch syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alfi D,
|
||
Lam D,
|
||
Gateno J</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
2014 Sep;22(2):167-73.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1016/j.cxom.2014.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25171997" target="_blank">25171997</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/3312608">Rubinstein-Taybi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry AC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 Sep;24(9):562-6.
|
||
doi: 10.1136/jmg.24.9.562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3312608" target="_blank">3312608</a><a href="/pmc/articles/PMC1050269" 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%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 (6598)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35568829">Performance-optimized otoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assis MS,
|
||
Miranda LS</span><br />
|
||
<span class="medgenPMjournal">BMC Surg</span>
|
||
2022 May 14;22(1):182.
|
||
doi: 10.1186/s12893-022-01587-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35568829" target="_blank">35568829</a><a href="/pmc/articles/PMC9107669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819397">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herlin MK,
|
||
Petersen MB,
|
||
Brännström M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Aug 20;15(1):214.
|
||
doi: 10.1186/s13023-020-01491-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819397" target="_blank">32819397</a><a href="/pmc/articles/PMC7439721" 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/21368648">Earlobe rejuvenation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hotta T</span><br />
|
||
<span class="medgenPMjournal">Plast Surg Nurs</span>
|
||
2011 Jan-Mar;31(1):39-40.
|
||
doi: 10.1097/PSN.0b013e31820f53fc.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21368648" target="_blank">21368648</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%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 (1943)</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/27613605">"Pitted" lesions in dermatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adya KA,
|
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Inamadar AC,
|
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Palit A</span><br />
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<span class="medgenPMjournal">Int J Dermatol</span>
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2017 Jan;56(1):3-17.
|
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Epub 2016 Sep 9
|
||
doi: 10.1111/ijd.13358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27613605" target="_blank">27613605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12215698">Fryns syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jog SM,
|
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Patole SK,
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Whitehall JS</span><br />
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<span class="medgenPMjournal">J Postgrad Med</span>
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2002 Apr-Jun;48(2):129-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12215698" target="_blank">12215698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2395165">The Townes-Brocks syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Callaghan M,
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Young ID</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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1990 Jul;27(7):457-61.
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doi: 10.1136/jmg.27.7.457.
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<span class="bold">PMID: </span><a href="/pubmed/2395165" target="_blank">2395165</a><a href="/pmc/articles/PMC1017185" target="_blank" class="PubMedFree">Free PMC Article</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,
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Heftner J</span><br />
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<span class="medgenPMjournal">Clin Plast Surg</span>
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1978 Jul;5(3):465-70.
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<span class="bold">PMID: </span><a href="/pubmed/699495" target="_blank">699495</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%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 (2641)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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,
|
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Han Z,
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||
Li Y,
|
||
Lin J,
|
||
Zou Y</span><br />
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<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 />
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<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2018 Feb;26(1):97-104.
|
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doi: 10.1016/j.fsc.2017.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29153193" target="_blank">29153193</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28840850">Classification and Current Management of Inner Ear Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sennaroğlu L,
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Bajin MD</span><br />
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<span class="medgenPMjournal">Balkan Med J</span>
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2017 Sep 29;34(5):397-411.
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Epub 2017 Aug 25
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doi: 10.4274/balkanmedj.2017.0367.
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||
<span class="bold">PMID: </span><a href="/pubmed/28840850" target="_blank">28840850</a><a href="/pmc/articles/PMC5635626" target="_blank" class="PubMedFree">Free PMC Article</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,
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Hennekam RC</span><br />
|
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<span class="medgenPMjournal">Eur J Med Genet</span>
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2007 Mar-Apr;50(2):159-61.
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Epub 2006 Nov 30
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||
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/15554489">Tympanometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onusko E</span><br />
|
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<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2004 Nov 1;70(9):1713-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15554489" target="_blank">15554489</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%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 (3392)</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/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/33215607">Acute otitis media and antibiotics - a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holm NH,
|
||
Rusan M,
|
||
Ovesen T</span><br />
|
||
<span class="medgenPMjournal">Dan Med J</span>
|
||
2020 Oct 29;67(11)
|
||
<span class="bold">PMID: </span><a href="/pubmed/33215607" target="_blank">33215607</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 class="nl"><a target="_blank" href="/pubmed/26104952">Regenerative medicine in otorhinolaryngology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wormald JC,
|
||
Fishman JM,
|
||
Juniat S,
|
||
Tolley N,
|
||
Birchall MA</span><br />
|
||
<span class="medgenPMjournal">J Laryngol Otol</span>
|
||
2015 Aug;129(8):732-9.
|
||
Epub 2015 Jun 24
|
||
doi: 10.1017/S0022215115001577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26104952" target="_blank">26104952</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%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 (144)</a></div></div>
|
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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