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<meta name="keywords" content="C0266623, abnormality of the neck, anomaly of the neck, congenital abnormality, congenital anomaly of neck, congenital deformity of neck, congenital malformation of the neck, deformity of the neck, malformation of the neck, 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 neck." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=540042
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ConceptID=C0266623
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the neck</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>540042</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:">C0266623</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>Anomaly of the neck; Congenital anomaly of neck; Congenital deformity of neck; Congenital malformation of the neck; Deformity of the neck; Malformation of the neck</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital malformation of the neck (40052002); Congenital anomaly of neck (40052002); Congenital deformity of neck (40052002)</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:0000464">HP:0000464</a></td></tr>
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</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 neck. [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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|
||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormality of the neck</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="matched_ds">Abnormality of the neck</span><ul><li><span class="TLline"><a href="/medgen/1813083" ref="tree=MeSH" title="MedGen record for Abnormal neck morphology">Abnormal neck morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892719" ref="tree=MeSH" title="MedGen record for Abnormal lateral cricoarytenoid muscle morphology">Abnormal lateral cricoarytenoid muscle morphology</a></span></li><li><span class="TLline"><a href="/medgen/869179" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the musculature of the neck">Abnormal morphology of the musculature of the neck</a></span><ul><li><span class="TLline"><a href="/medgen/1815111" ref="tree=MeSH" title="MedGen record for Abnormal geniohyoid muscle morphology">Abnormal geniohyoid muscle morphology</a></span></li><li><span class="TLline"><a href="/medgen/892850" ref="tree=MeSH" title="MedGen record for Abnormal platysma muscle morphology">Abnormal platysma muscle morphology</a></span></li><li><span class="TLline"><a href="/medgen/86902" ref="tree=MeSH" title="MedGen record for Congenital muscular torticollis">Congenital muscular torticollis</a></span></li><li><span class="TLline"><a href="/medgen/868296" ref="tree=MeSH" title="MedGen record for Neck muscle hypertrophy">Neck muscle hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/1815087" ref="tree=MeSH" title="MedGen record for Trapezius muscle aplasia">Trapezius muscle aplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893147" ref="tree=MeSH" title="MedGen record for Abnormal neck blood vessel morphology">Abnormal neck blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892670" ref="tree=MeSH" title="MedGen record for Abnormal facial vein morphology">Abnormal facial vein morphology</a></span></li><li><span class="TLline"><a href="/medgen/892497" ref="tree=MeSH" title="MedGen record for Abnormal jugular vein morphology">Abnormal jugular vein morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863466" ref="tree=MeSH" title="MedGen record for Anterior neck swelling">Anterior neck swelling</a></span></li><li><span class="TLline"><a href="/medgen/349421" ref="tree=MeSH" title="MedGen record for Branchial anomaly">Branchial anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/2342" ref="tree=MeSH" title="MedGen record for Branchial cyst">Branchial cyst</a></span></li><li><span class="TLline"><a href="/medgen/107802" ref="tree=MeSH" title="MedGen record for Branchial fistula">Branchial fistula</a></span></li><li><span class="TLline"><a href="/medgen/451026" ref="tree=MeSH" title="MedGen record for Branchial sinus">Branchial sinus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344099" ref="tree=MeSH" title="MedGen record for Broad neck">Broad neck</a></span></li><li><span class="TLline"><a href="/medgen/60195" ref="tree=MeSH" title="MedGen record for Cystic hygroma">Cystic hygroma</a></span><ul><li><span class="TLline"><a href="/medgen/859100" ref="tree=MeSH" title="MedGen record for Congenital Cystic Hygroma">Congenital Cystic Hygroma</a></span></li><li><span class="TLline"><a href="/medgen/869254" ref="tree=MeSH" title="MedGen record for Postnatal cystic hygroma">Postnatal cystic hygroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871356" ref="tree=MeSH" title="MedGen record for Increased adipose tissue around the neck">Increased adipose tissue around the neck</a></span></li><li><span class="TLline"><a href="/medgen/1864379" ref="tree=MeSH" title="MedGen record for Lateral neck mass">Lateral neck mass</a></span></li><li><span class="TLline"><a href="/medgen/333409" ref="tree=MeSH" title="MedGen record for Long neck">Long neck</a></span></li><li><span class="TLline"><a href="/medgen/369906" ref="tree=MeSH" title="MedGen record for Neck muscle hypoplasia">Neck muscle hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/374440" ref="tree=MeSH" title="MedGen record for Redundant neck skin">Redundant neck skin</a></span></li><li><span class="TLline"><a href="/medgen/99267" ref="tree=MeSH" title="MedGen record for Short neck">Short neck</a></span></li><li><span class="TLline"><a href="/medgen/113154" ref="tree=MeSH" title="MedGen record for Webbed neck">Webbed neck</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814188" ref="tree=MeSH" title="MedGen record for Abnormal neck physiology">Abnormal neck physiology</a></span><ul><li><span class="TLline"><a href="/medgen/337808" ref="tree=MeSH" title="MedGen record for Limitation of neck motion">Limitation of neck motion</a></span><ul><li><span class="TLline"><a href="/medgen/1788975" ref="tree=MeSH" title="MedGen record for Limited head rotation">Limited head rotation</a></span></li><li><span class="TLline"><a href="/medgen/1785938" ref="tree=MeSH" title="MedGen record for Limited lateral neck flexion">Limited lateral neck flexion</a></span></li><li><span class="TLline"><a href="/medgen/1787742" ref="tree=MeSH" title="MedGen record for Limited neck extension">Limited neck extension</a></span></li><li><span class="TLline"><a href="/medgen/350430" ref="tree=MeSH" title="MedGen record for Limited neck flexion">Limited neck flexion</a></span></li><li><span class="TLline"><a href="/medgen/395202" ref="tree=MeSH" title="MedGen record for Limited neck range of motion">Limited neck range of motion</a></span></li><li><span class="TLline"><a href="/medgen/357889" ref="tree=MeSH" title="MedGen record for Neck joint contracture">Neck joint contracture</a></span></li><li><span class="TLline"><a href="/medgen/272101" ref="tree=MeSH" title="MedGen record for Nuchal rigidity">Nuchal rigidity</a></span></li><li><span class="TLline"><a href="/medgen/57464" ref="tree=MeSH" title="MedGen record for Stiff neck">Stiff neck</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_36265"><div><strong>Branchial cleft anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36265</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.">C0079037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36265">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87437"><div><strong>Hypoparathyroidism - X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87437</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.">C0342344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140922"><div><strong>Congenital absence of cervical vertebra</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140922</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.">C0432160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agenesis of one or more vertebrae of the cervical vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332940"><div><strong>Mandibuloacral dysplasia with type B lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332940</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.">C1837756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332940">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401477"><div><strong>Parotidomegaly, hereditary bilateral</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401477</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.">C1868590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401477">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412914"><div><strong>Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412914</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.">C2750234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and intellectual disability (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412914">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443944"><div><strong>Odontotrichomelic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443944</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.">C2930960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720295"><div><strong>Emery-Dreifuss muscular dystrophy 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720295</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.">C5243475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720295">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36265" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchial cleft anomaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital absence of cervical vertebra</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 1, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoparathyroidism - X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia with type B lipodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontotrichomelic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parotidomegaly, hereditary bilateral</a></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/32052384">Thyroglossal duct cysts and site-specific differential diagnoses: imaging findings with emphasis on ultrasound assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corvino A,
|
||
Pignata S,
|
||
Campanino MR,
|
||
Corvino F,
|
||
Giurazza F,
|
||
Tafuri D,
|
||
Pinto F,
|
||
Catalano O</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound</span>
|
||
2020 Jun;23(2):139-149.
|
||
Epub 2020 Feb 12
|
||
doi: 10.1007/s40477-020-00433-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32052384" target="_blank">32052384</a><a href="/pmc/articles/PMC7242578" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23689821">Thyroglossal duct cysts: anatomy, embryology and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chou J,
|
||
Walters A,
|
||
Hage R,
|
||
Zurada A,
|
||
Michalak M,
|
||
Tubbs RS,
|
||
Loukas M</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2013 Dec;35(10):875-81.
|
||
Epub 2013 May 21
|
||
doi: 10.1007/s00276-013-1115-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23689821" target="_blank">23689821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20neck%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 (2)</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/38117302">Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmetz A,
|
||
Lüdecke HJ,
|
||
Surowy H,
|
||
Sivalingam S,
|
||
Bruel AL,
|
||
Caumes R,
|
||
Charles P,
|
||
Chatron N,
|
||
Chrzanowska K,
|
||
Codina-Solà M,
|
||
Colson C,
|
||
Cuscó I,
|
||
Denommé-Pichon AS,
|
||
Edery P,
|
||
Faivre L,
|
||
Green A,
|
||
Heide S,
|
||
Hsieh TC,
|
||
Hustinx A,
|
||
Kleinendorst L,
|
||
Knopp C,
|
||
Kraft F,
|
||
Krawitz PM,
|
||
Lasa-Aranzasti A,
|
||
Lesca G,
|
||
López-González V,
|
||
Maraval J,
|
||
Mignot C,
|
||
Neuhann T,
|
||
Netzer C,
|
||
Oehl-Jaschkowitz B,
|
||
Petit F,
|
||
Philippe C,
|
||
Posmyk R,
|
||
Putoux A,
|
||
Reis A,
|
||
Sánchez-Soler MJ,
|
||
Suh J,
|
||
Tkemaladze T,
|
||
Tran Mau Them F,
|
||
Travessa A,
|
||
Trujillano L,
|
||
Valenzuela I,
|
||
van Haelst MM,
|
||
Vasileiou G,
|
||
Vincent-Delorme C,
|
||
Walther M,
|
||
Verde P,
|
||
Bramswig NC,
|
||
Wieczorek D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2024 Jan;143(1):71-84.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1007/s00439-023-02622-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38117302" target="_blank">38117302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34205270">Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasko A,
|
||
Drivas TG,
|
||
Schrier Vergano SA</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jun 19;12(6)
|
||
doi: 10.3390/genes12060937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34205270" target="_blank">34205270</a><a href="/pmc/articles/PMC8233770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33632268">Effectiveness of pediatric integrative manual therapy in cervical movement limitation in infants with positional plagiocephaly: a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pastor-Pons I,
|
||
Hidalgo-García C,
|
||
Lucha-López MO,
|
||
Barrau-Lalmolda M,
|
||
Rodes-Pastor I,
|
||
Rodríguez-Fernández ÁL,
|
||
Tricás-Moreno JM</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2021 Feb 25;47(1):41.
|
||
doi: 10.1186/s13052-021-00995-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33632268" target="_blank">33632268</a><a href="/pmc/articles/PMC7908758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396417">Congenital Neck Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quintanilla-Dieck L,
|
||
Penn EB Jr</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):769-785.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1016/j.clp.2018.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396417" target="_blank">30396417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
|
||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):597-607.
|
||
Epub 2018 Sep 11
|
||
doi: 10.1016/j.clp.2018.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20neck%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 (10922)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36219630">Pigmented Papules on the Face, Neck, and Chest.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma A,
|
||
Subburaja K,
|
||
Kumaran MS,
|
||
Chatterjee D</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2022 Aug;110(2):63.
|
||
doi: 10.12788/cutis.0583.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36219630" target="_blank">36219630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396417">Congenital Neck Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quintanilla-Dieck L,
|
||
Penn EB Jr</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):769-785.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1016/j.clp.2018.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396417" target="_blank">30396417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20neck%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 (11782)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35263518">Thyroidectomy without Radioiodine in Patients with Low-Risk Thyroid Cancer.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20neck%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 (4290)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35263518">Thyroidectomy without Radioiodine in Patients with Low-Risk Thyroid Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leboulleux S,
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Bournaud C,
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Chougnet CN,
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Zerdoud S,
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Al Ghuzlan A,
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Catargi B,
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Do Cao C,
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Kelly A,
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Barge ML,
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Lacroix L,
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Dygai I,
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Vera P,
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Rusu D,
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Schneegans O,
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Benisvy D,
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Klein M,
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Roux J,
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Eberle MC,
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Bastie D,
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Nascimento C,
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Giraudet AL,
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Le Moullec N,
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Bardet S,
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Drui D,
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Roudaut N,
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Godbert Y,
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Morel O,
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Drutel A,
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Lamartina L,
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Schvartz C,
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Velayoudom FL,
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Schlumberger MJ,
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Leenhardt L,
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<div class="nl"><a target="_blank" href="/pubmed/33632268">Effectiveness of pediatric integrative manual therapy in cervical movement limitation in infants with positional plagiocephaly: a randomized controlled trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pastor-Pons I,
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Hidalgo-García C,
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Lucha-López MO,
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Barrau-Lalmolda M,
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Tricás-Moreno JM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33632268" target="_blank">33632268</a><a href="/pmc/articles/PMC7908758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/30396411" target="_blank">30396411</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
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Rutter MJ</span><br />
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2018 Dec;45(4):597-607.
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Epub 2018 Sep 11
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doi: 10.1016/j.clp.2018.07.002.
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<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20neck%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 (5878)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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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/37995018">Treatments of Epistaxis in Hereditary Hemorrhagic Telangiectasia: Systematic Review and Network Meta-Analysis.</a></div>
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Kanjanawasee D,
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Seresirikachorn K,
|
||
Snidvongs K</span><br />
|
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<span class="medgenPMjournal">Curr Allergy Asthma Rep</span>
|
||
2023 Dec;23(12):689-701.
|
||
Epub 2023 Nov 23
|
||
doi: 10.1007/s11882-023-01116-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37995018" target="_blank">37995018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37054911">TFOS Lifestyle: Impact of lifestyle challenges on the ocular surface.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galor A,
|
||
Britten-Jones AC,
|
||
Feng Y,
|
||
Ferrari G,
|
||
Goldblum D,
|
||
Gupta PK,
|
||
Merayo-Lloves J,
|
||
Na KS,
|
||
Naroo SA,
|
||
Nichols KK,
|
||
Rocha EM,
|
||
Tong L,
|
||
Wang MTM,
|
||
Craig JP</span><br />
|
||
<span class="medgenPMjournal">Ocul Surf</span>
|
||
2023 Apr;28:262-303.
|
||
Epub 2023 Apr 11
|
||
doi: 10.1016/j.jtos.2023.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37054911" target="_blank">37054911</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35526176">Efficacy of sirolimus in children with lymphatic malformations of the head and neck.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegand S,
|
||
Dietz A,
|
||
Wichmann G</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2022 Aug;279(8):3801-3810.
|
||
Epub 2022 May 8
|
||
doi: 10.1007/s00405-022-07378-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35526176" target="_blank">35526176</a><a href="/pmc/articles/PMC9249683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33474984">Best Practices: Hip Femoroacetabular Impingement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmaranzer F,
|
||
Kheterpal AB,
|
||
Bredella MA</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2021 Mar;216(3):585-598.
|
||
Epub 2021 Jan 21
|
||
doi: 10.2214/AJR.20.22783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33474984" target="_blank">33474984</a><a href="/pmc/articles/PMC8116615" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
Walker R</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2020 Jul 16;10:22.
|
||
doi: 10.5334/tohm.351.
|
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<span class="bold">PMID: </span><a href="/pubmed/32775036" target="_blank">32775036</a><a href="/pmc/articles/PMC7394219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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