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<!--
|
||
UID=75618
|
||
ConceptID=C0266589
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ear malformation</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.">C0266589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of the ear; CUP EAR</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>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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>
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||
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<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>Ear malformation</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.">C0266589</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=%22Ear%20malformation%22%5BClinical%20Features%5D%20OR%2075618%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Ear malformation</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'">Ear malformation</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">Ear malformation</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">Ear malformation</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 loss disorder">Sensorineural hearing loss disorder</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>Piebaldism</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>Ear malformation</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.">C0266589</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>
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||
<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_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>
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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><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_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_75618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ear malformation</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'">Piebaldism</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/38594752">Genotype-phenotype associations in microtia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wahdini SI,
|
||
Idamatussilmi F,
|
||
Pramanasari R,
|
||
Prawoto AN,
|
||
Wungu CDK,
|
||
Putri IL,
|
||
Gunadi</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Apr 9;19(1):152.
|
||
doi: 10.1186/s13023-024-03142-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38594752" target="_blank">38594752</a><a href="/pmc/articles/PMC11003020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36274068">Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chanclud J,
|
||
Valence S,
|
||
Perre SV,
|
||
Guilbaud L,
|
||
Moutard ML,
|
||
Jouannic JM,
|
||
Ducou Le Pointe H,
|
||
Blondiaux E,
|
||
Garel C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2023 Mar;53(3):461-469.
|
||
Epub 2022 Oct 24
|
||
doi: 10.1007/s00247-022-05531-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36274068" target="_blank">36274068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30762457">Analysis between phenotypes and genotypes of inner ear malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Ding W,
|
||
Chen C,
|
||
Xu B,
|
||
Liu X,
|
||
Bian P,
|
||
Guo Y</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2019 Mar;139(3):223-232.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1080/00016489.2018.1554262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30762457" target="_blank">30762457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ear%20malformation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (12)</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/35653220">Long-term audiologic outcomes and potential outcome predictors of cochlear implantation in cochlear aplasia with dilated vestibule: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim BJ,
|
||
Jeon H,
|
||
Kim Y,
|
||
Lee SY,
|
||
Han JH,
|
||
Yi N,
|
||
Chung JW,
|
||
Oh SH,
|
||
Choi BY</span><br />
|
||
<span class="medgenPMjournal">Clin Otolaryngol</span>
|
||
2022 Sep;47(5):599-605.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1111/coa.13952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35653220" target="_blank">35653220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33558774">Subtotal petrosectomy and cochlear implantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Angelo G,
|
||
Donati G,
|
||
Bacciu A,
|
||
Guida M,
|
||
Falcioni M</span><br />
|
||
<span class="medgenPMjournal">Acta Otorhinolaryngol Ital</span>
|
||
2020 Dec;40(6):450-456.
|
||
doi: 10.14639/0392-100X-N0931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33558774" target="_blank">33558774</a><a href="/pmc/articles/PMC7889253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27256962">CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vashist S,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
|
||
2016 Jun;133 Suppl 1:S21-4.
|
||
Epub 2016 May 30
|
||
doi: 10.1016/j.anorl.2016.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27256962" target="_blank">27256962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24480122">Unruptured translabyrinthine meningocele without CSF otorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong WK,
|
||
Lee CH,
|
||
Eunhye Y,
|
||
Shin SH</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2014 Mar;78(3):566-9.
|
||
Epub 2014 Jan 10
|
||
doi: 10.1016/j.ijporl.2013.12.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24480122" target="_blank">24480122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10908997">Osseointegrated implants in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Granström G</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol Suppl</span>
|
||
2000;543:118-21.
|
||
doi: 10.1080/000164800454161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10908997" target="_blank">10908997</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ear%20malformation%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (172)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36543163">Acute myeloid leukemia associated with CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shuto M,
|
||
Hirano N,
|
||
Oguri S,
|
||
Itonaga T,
|
||
Inoue M,
|
||
Suenobu S,
|
||
Ihara K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Mar;191(3):878-881.
|
||
Epub 2022 Dec 21
|
||
doi: 10.1002/ajmg.a.63087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36543163" target="_blank">36543163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31155944">Isolated Congenital Round Window Atresia: Report of 2 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong WK,
|
||
Salkeld L,
|
||
Flint D</span><br />
|
||
<span class="medgenPMjournal">Ear Nose Throat J</span>
|
||
2020 Aug;99(7):433-436.
|
||
Epub 2019 Jun 2
|
||
doi: 10.1177/0145561319840541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31155944" target="_blank">31155944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30762457">Analysis between phenotypes and genotypes of inner ear malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Ding W,
|
||
Chen C,
|
||
Xu B,
|
||
Liu X,
|
||
Bian P,
|
||
Guo Y</span><br />
|
||
<span class="medgenPMjournal">Acta Otolaryngol</span>
|
||
2019 Mar;139(3):223-232.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1080/00016489.2018.1554262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30762457" target="_blank">30762457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24480122">Unruptured translabyrinthine meningocele without CSF otorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong WK,
|
||
Lee CH,
|
||
Eunhye Y,
|
||
Shin SH</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2014 Mar;78(3):566-9.
|
||
Epub 2014 Jan 10
|
||
doi: 10.1016/j.ijporl.2013.12.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24480122" target="_blank">24480122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23562225">A rare middle ear malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammoudi K,
|
||
Kim S,
|
||
Robier A,
|
||
Lescanne E,
|
||
Bakhos D</span><br />
|
||
<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
|
||
2013 Nov;130(5):297-8.
|
||
Epub 2013 Apr 3
|
||
doi: 10.1016/j.anorl.2012.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23562225" target="_blank">23562225</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ear%20malformation%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (141)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36684928">Maternal exposure to ambient air pollution and risk of congenital heart defects in Suzhou, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun L,
|
||
Wu Q,
|
||
Wang H,
|
||
Liu J,
|
||
Shao Y,
|
||
Xu R,
|
||
Gong T,
|
||
Peng X,
|
||
Zhang B</span><br />
|
||
<span class="medgenPMjournal">Front Public Health</span>
|
||
2022;10:1017644.
|
||
Epub 2023 Jan 4
|
||
doi: 10.3389/fpubh.2022.1017644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36684928" target="_blank">36684928</a><a href="/pmc/articles/PMC9845866" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32791720">Ear mold for congenital ear malformation: A randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zou K,
|
||
Fan Y,
|
||
Jiang L,
|
||
Huang J,
|
||
Miao Y,
|
||
Yang C,
|
||
Yang M,
|
||
Zhao L</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2020 Jul 24;99(30):e21313.
|
||
doi: 10.1097/MD.0000000000021313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32791720" target="_blank">32791720</a><a href="/pmc/articles/PMC7387052" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27779564">X-linked Malformation and Cochlear Implantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smeds H,
|
||
Wales J,
|
||
Asp F,
|
||
Löfkvist U,
|
||
Falahat B,
|
||
Anderlid BM,
|
||
Anmyr L,
|
||
Karltorp E</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2017 Jan;38(1):38-46.
|
||
doi: 10.1097/MAO.0000000000001253.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27779564" target="_blank">27779564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19568610">A case of suspected isotretinoin-induced malformation in a baby of a mother who became pregnant one month after discontinuation of the drug.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SM,
|
||
Kim HM,
|
||
Lee JS,
|
||
Yoon CS,
|
||
Park MS,
|
||
Park KI,
|
||
Namgung R,
|
||
Lee C</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
2009 Jun 30;50(3):445-7.
|
||
Epub 2009 Jun 23
|
||
doi: 10.3349/ymj.2009.50.3.445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19568610" target="_blank">19568610</a><a href="/pmc/articles/PMC2703771" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10824232">Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham JM,
|
||
Phelps PD,
|
||
Michaels L</span><br />
|
||
<span class="medgenPMjournal">J Laryngol Otol Suppl</span>
|
||
2000;25:1-14.
|
||
doi: 10.1258/0022215001904842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10824232" target="_blank">10824232</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ear%20malformation%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37741656">Non-Syndromic Sensorineural Hearing Loss in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robson CD,
|
||
Lewis M,
|
||
D'Arco F</span><br />
|
||
<span class="medgenPMjournal">Neuroimaging Clin N Am</span>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/27376080">The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14696767">Branchio-oto-renal syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez Soriano J</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/10908997">Osseointegrated implants in children.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ear%20malformation%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (73)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang M,
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<span class="bold">PMID: </span><a href="/pubmed/38071650" target="_blank">38071650</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35469681">Discrepancies in the caloric testing and video Head Impulse Test results in a case with bilateral lateral semicircular canal malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fujiwara K,
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Morita S,
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Fukuda A,
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<span class="bold">PMID: </span><a href="/pubmed/35469681" target="_blank">35469681</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35653220">Long-term audiologic outcomes and potential outcome predictors of cochlear implantation in cochlear aplasia with dilated vestibule: A case series.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kim BJ,
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Jeon H,
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Kim Y,
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Lee SY,
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Han JH,
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Yi N,
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Chung JW,
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Oh SH,
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Choi BY</span><br />
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<span class="medgenPMjournal">Clin Otolaryngol</span>
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2022 Sep;47(5):599-605.
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Epub 2022 Jun 14
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doi: 10.1111/coa.13952.
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<span class="bold">PMID: </span><a href="/pubmed/35653220" target="_blank">35653220</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32910226">Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Forli F,
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Lazzerini F,
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Auletta G,
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2021 Jul;278(7):2305-2312.
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<div class="nl"><a target="_blank" href="/pubmed/27256962">CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vashist S,
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<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/27256962" target="_blank">27256962</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ear%20malformation%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (104)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/39607757">Current status of pediatric auditory brainstem implantation in inner ear malformations; consensus statement of the Third International Pediatric ABI Meeting.</a></div>
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Lenarz T,
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Roland JT,
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Lee DJ,
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Colletti L,
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Behr R,
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Jiang D,
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Saeed SR,
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Casselman J,
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Manrique M,
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Diamante V,
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Freeman SRM,
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Lloyd SKW,
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Zarowski A,
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Offeciers E,
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Kameswaran M,
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de la Torre Diamante DA,
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Bilginer B,
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Thomas N,
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Bento R,
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Sennaroglu G,
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Yucel E,
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Bajin MD,
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Cole C,
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Martinez A,
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Loggins J,
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Eisenberg LS,
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Wilkinson EP,
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Bakey CA,
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Carter CL,
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Herrmann BS,
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Waltzman S,
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Shapiro W,
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Svirsky M,
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Pallares N,
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Diamante G,
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Heller F,
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Palacios M,
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Diamante LL,
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Chang W,
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Tong M,
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Wu H,
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Batuk MO,
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Yarali M,
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Aslan F,
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Huarte A,
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Topsakal V,
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Hofkens-Van den Brandt A,
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van de Heyning P,
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Gaertner L,
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Shapira Y,
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Henkin Y,
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Battelino S,
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Orzan E,
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Muzzi E,
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Marchi R,
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Free R,
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Frijns JHM,
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Voelker C,
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Schrader D,
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Ganguly DH,
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Egra-Dagan D,
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Dayxes N,
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Koji R,
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Bulut EG,
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Verbist B,
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Azadpour M,
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Mandala M,
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Goffi MV,
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Polak M,
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Lee KYS,
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Wilson K,
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Friedmann DR,
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Rajeswaran R,
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Monsanto R,
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Cureoglu S,
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Driver S,
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Bošnjak R,
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Dundar G,
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Eroglu E</span><br />
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<span class="medgenPMjournal">Cochlear Implants Int</span>
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2024 Jul;25(4):316-333.
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Epub 2024 Nov 28
|
||
doi: 10.1080/14670100.2024.2413273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39607757" target="_blank">39607757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38594752">Genotype-phenotype associations in microtia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wahdini SI,
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Idamatussilmi F,
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Pramanasari R,
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Prawoto AN,
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Wungu CDK,
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Putri IL,
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2024 Apr 9;19(1):152.
|
||
doi: 10.1186/s13023-024-03142-9.
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<span class="bold">PMID: </span><a href="/pubmed/38594752" target="_blank">38594752</a><a href="/pmc/articles/PMC11003020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38411671">Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazzi V,
|
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Fordington S,
|
||
Brown TH,
|
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Donnelly N,
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Bewick J,
|
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Ehsani D,
|
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Pelucchi S,
|
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Bianchini C,
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Ciorba A,
|
||
Borsetto D</span><br />
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<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 Jul;281(7):3397-3421.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1007/s00405-024-08527-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38411671" target="_blank">38411671</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ear%20malformation%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<a href="/pubmed?term=Ear%20malformation%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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