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<meta name="keywords" content="C5676984, chd5, disease or syndrome, parenti-mignot neurodevelopmental syndrome, pmnds, 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="Parenti-Mignot neurodevelopmental syndrome (PMNDS) is an autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy (Parenti et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1808333
|
||
ConceptID=C5676984
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Parenti-mignot neurodevelopmental syndrome<span class="h1sub">(PMNDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808333</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:">C5676984</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME; PMNDS</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CHD5 - ID: 26038 - NCBI Gene" href="/gene/26038" class="medgenPMinfo">CHD5</a> (1p36.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859249" target="_blank">MONDO:0859249</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619873" target="_blank">619873</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">Parenti-Mignot neurodevelopmental syndrome (PMNDS) is an autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy (Parenti et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<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_57535"><div><strong>Microtia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57535</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.">C0152423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57535">Feature record</a> | <a href="/medgen?term=%22Microtia%22%5BClinical%20Features%5D%20OR%2057535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96566"><div><strong>Posteriorly rotated ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96566</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.">C0431478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96566">Feature record</a> | <a href="/medgen?term=%22Posteriorly%20rotated%20ears%22%5BClinical%20Features%5D%20OR%2096566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335186"><div><strong>Cupped ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335186</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.">C1845447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335186">Feature record</a> | <a href="/medgen?term=%22Cupped%20ear%22%5BClinical%20Features%5D%20OR%20335186%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</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.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Self-aggression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_109373"><div><strong>Compulsive behaviors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109373</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.">C0600104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/109373">Feature record</a> | <a href="/medgen?term=%22Compulsive%20behaviors%22%5BClinical%20Features%5D%20OR%20109373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488979"><div><strong>Skin-picking</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488979</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.">C1696701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repetitive and compulsive picking of skin which results in tissue damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488979">Feature record</a> | <a href="/medgen?term=%22Skin-picking%22%5BClinical%20Features%5D%20OR%20488979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1163"><div><strong>Craniosynostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1163</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.">C0010278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1163">Feature record</a> | <a href="/medgen?term=%22Craniosynostosis%20syndrome%22%5BClinical%20Features%5D%20OR%201163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343051"><div><strong>Prominent nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343051</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.">C1854113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior positioning of the nasal root in comparison to the usual positioning for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343051">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20343051%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383839"><div><strong>Prominent nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383839</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.">C1856118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383839">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20tip%22%5BClinical%20Features%5D%20OR%20383839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350006"><div><strong>Short philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350006</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.">C1861324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350006">Feature record</a> | <a href="/medgen?term=%22Short%20philtrum%22%5BClinical%20Features%5D%20OR%20350006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98132"><div><strong>Synophrys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98132</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.">C0431447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meeting of the medial eyebrows in the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98132">Feature record</a> | <a href="/medgen?term=%22Synophrys%22%5BClinical%20Features%5D%20OR%2098132%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synophrys</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_109373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compulsive behaviors</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin-picking</a></span></li></ul></li><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_335186" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cupped ear</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microtia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posteriorly rotated ears</a></span></li></ul></li></ul></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/36354027">Tourette syndrome: clinical features, pathophysiology, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson KA,
|
||
Worbe Y,
|
||
Foote KD,
|
||
Butson CR,
|
||
Gunduz A,
|
||
Okun MS</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Feb;22(2):147-158.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1016/S1474-4422(22)00303-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36354027" target="_blank">36354027</a><a href="/pmc/articles/PMC10958485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31610922">Practical considerations for the evaluation and management of Attention Deficit Hyperactivity Disorder (ADHD) in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weibel S,
|
||
Menard O,
|
||
Ionita A,
|
||
Boumendjel M,
|
||
Cabelguen C,
|
||
Kraemer C,
|
||
Micoulaud-Franchi JA,
|
||
Bioulac S,
|
||
Perroud N,
|
||
Sauvaget A,
|
||
Carton L,
|
||
Gachet M,
|
||
Lopez R</span><br />
|
||
<span class="medgenPMjournal">Encephale</span>
|
||
2020 Feb;46(1):30-40.
|
||
Epub 2019 Oct 11
|
||
doi: 10.1016/j.encep.2019.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31610922" target="_blank">31610922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31333129">Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butler MG,
|
||
Miller JL,
|
||
Forster JL</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2019;15(4):207-244.
|
||
doi: 10.2174/1573396315666190716120925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31333129" target="_blank">31333129</a><a href="/pmc/articles/PMC7040524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(parenti-mignot%20neurodevelopmental%20syndrome)%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 (411)</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/35449162">Hypothalamic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller HL,
|
||
Tauber M,
|
||
Lawson EA,
|
||
Özyurt J,
|
||
Bison B,
|
||
Martinez-Barbera JP,
|
||
Puget S,
|
||
Merchant TE,
|
||
van Santen HM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2022 Apr 21;8(1):24.
|
||
doi: 10.1038/s41572-022-00351-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35449162" target="_blank">35449162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33341437">Restless sleep in children: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DelRosso LM,
|
||
Picchietti DL,
|
||
Spruyt K,
|
||
Bruni O,
|
||
Garcia-Borreguero D,
|
||
Kotagal S,
|
||
Owens JA,
|
||
Simakajornboon N,
|
||
Ferri R;
|
||
International Restless Legs Syndrome Study Group (IRLSSG)</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2021 Apr;56:101406.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1016/j.smrv.2020.101406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33341437" target="_blank">33341437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32049433">22q11.2 deletion syndrome and congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldmuntz E</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):64-72.
|
||
Epub 2020 Feb 12
|
||
doi: 10.1002/ajmg.c.31774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32049433" target="_blank">32049433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30677142">Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zollino M,
|
||
Zweier C,
|
||
Van Balkom ID,
|
||
Sweetser DA,
|
||
Alaimo J,
|
||
Bijlsma EK,
|
||
Cody J,
|
||
Elsea SH,
|
||
Giurgea I,
|
||
Macchiaiolo M,
|
||
Smigiel R,
|
||
Thibert RL,
|
||
Benoist I,
|
||
Clayton-Smith J,
|
||
De Winter CF,
|
||
Deckers S,
|
||
Gandhi A,
|
||
Huisman S,
|
||
Kempink D,
|
||
Kruisinga F,
|
||
Lamacchia V,
|
||
Marangi G,
|
||
Menke L,
|
||
Mulder P,
|
||
Nordgren A,
|
||
Renieri A,
|
||
Routledge S,
|
||
Saunders CJ,
|
||
Stembalska A,
|
||
Van Balkom H,
|
||
Whalen S,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Apr;95(4):462-478.
|
||
Epub 2019 Feb 18
|
||
doi: 10.1111/cge.13506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30677142" target="_blank">30677142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622209">The epileptic encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cross JH,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:619-26.
|
||
doi: 10.1016/B978-0-444-52891-9.00064-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622209" target="_blank">23622209</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parenti-mignot%20neurodevelopmental%20syndrome%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 (3498)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38043967">Benign paroxysmal torticollis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates T</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;198:241-247.
|
||
doi: 10.1016/B978-0-12-823356-6.00013-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38043967" target="_blank">38043967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36434914">DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy T,
|
||
Siper PM,
|
||
Lerman B,
|
||
Halpern D,
|
||
Zweifach J,
|
||
Belani P,
|
||
Thurm A,
|
||
Kleefstra T,
|
||
Berry-Kravis E,
|
||
Buxbaum JD,
|
||
Grice DE</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Jan;138:87-94.
|
||
Epub 2022 Oct 27
|
||
doi: 10.1016/j.pediatrneurol.2022.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36434914" target="_blank">36434914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29667863">Leo Kanner and autism: a 75-year perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris J</span><br />
|
||
<span class="medgenPMjournal">Int Rev Psychiatry</span>
|
||
2018 Feb;30(1):3-17.
|
||
Epub 2018 Apr 18
|
||
doi: 10.1080/09540261.2018.1455646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29667863" target="_blank">29667863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26544750">Identifying the lost generation of adults with autism spectrum conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai MC,
|
||
Baron-Cohen S</span><br />
|
||
<span class="medgenPMjournal">Lancet Psychiatry</span>
|
||
2015 Nov;2(11):1013-27.
|
||
doi: 10.1016/S2215-0366(15)00277-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26544750" target="_blank">26544750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26022164">Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalsner L,
|
||
Chamberlain SJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Jun;62(3):587-606.
|
||
Epub 2015 Apr 22
|
||
doi: 10.1016/j.pcl.2015.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26022164" target="_blank">26022164</a><a href="/pmc/articles/PMC4449422" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parenti-mignot%20neurodevelopmental%20syndrome%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 (3308)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38051326">Adenotonsillectomy for Snoring and Mild Sleep Apnea in Children: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Redline S,
|
||
Cook K,
|
||
Chervin RD,
|
||
Ishman S,
|
||
Baldassari CM,
|
||
Mitchell RB,
|
||
Tapia IE,
|
||
Amin R,
|
||
Hassan F,
|
||
Ibrahim S,
|
||
Ross K,
|
||
Elden LM,
|
||
Kirkham EM,
|
||
Zopf D,
|
||
Shah J,
|
||
Otteson T,
|
||
Naqvi K,
|
||
Owens J,
|
||
Young L,
|
||
Furth S,
|
||
Connolly H,
|
||
Clark CAC,
|
||
Bakker JP,
|
||
Garetz S,
|
||
Radcliffe J,
|
||
Taylor HG,
|
||
Rosen CL,
|
||
Wang R;
|
||
Pediatric Adenotonsillectomy Trial for Snoring (PATS) Study Team</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Dec 5;330(21):2084-2095.
|
||
doi: 10.1001/jama.2023.22114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38051326" target="_blank">38051326</a><a href="/pmc/articles/PMC10698619" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35026129">Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lees CC,
|
||
Romero R,
|
||
Stampalija T,
|
||
Dall'Asta A,
|
||
DeVore GA,
|
||
Prefumo F,
|
||
Frusca T,
|
||
Visser GHA,
|
||
Hobbins JC,
|
||
Baschat AA,
|
||
Bilardo CM,
|
||
Galan HL,
|
||
Campbell S,
|
||
Maulik D,
|
||
Figueras F,
|
||
Lee W,
|
||
Unterscheider J,
|
||
Valensise H,
|
||
Da Silva Costa F,
|
||
Salomon LJ,
|
||
Poon LC,
|
||
Ferrazzi E,
|
||
Mari G,
|
||
Rizzo G,
|
||
Kingdom JC,
|
||
Kiserud T,
|
||
Hecher K</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2022 Mar;226(3):366-378.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1016/j.ajog.2021.11.1357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35026129" target="_blank">35026129</a><a href="/pmc/articles/PMC9125563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31014448">Non-Invasive Ventilation in Neonatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behnke J,
|
||
Lemyre B,
|
||
Czernik C,
|
||
Zimmer KP,
|
||
Ehrhardt H,
|
||
Waitz M</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2019 Mar 8;116(11):177-183.
|
||
doi: 10.3238/arztebl.2019.0177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31014448" target="_blank">31014448</a><a href="/pmc/articles/PMC6503172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30851746">Nonsyndromic Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dempsey RF,
|
||
Monson LA,
|
||
Maricevich RS,
|
||
Truong TA,
|
||
Olarunnipa S,
|
||
Lam SK,
|
||
Dauser RC,
|
||
Hollier LH Jr,
|
||
Buchanan EP</span><br />
|
||
<span class="medgenPMjournal">Clin Plast Surg</span>
|
||
2019 Apr;46(2):123-139.
|
||
Epub 2019 Jan 30
|
||
doi: 10.1016/j.cps.2018.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30851746" target="_blank">30851746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040994">Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margolis SS,
|
||
Sell GL,
|
||
Zbinden MA,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parenti-mignot%20neurodevelopmental%20syndrome%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 (1522)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38221796">Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34573342">Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.</a></div>
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<span class="medgenPMjournal">Genes (Basel)</span>
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2021 Aug 30;12(9)
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parenti-mignot%20neurodevelopmental%20syndrome%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 (2642)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38199397">The prevalence of premenstrual dysphoric disorder: Systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reilly TJ,
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Patel S,
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Unachukwu IC,
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Knox CL,
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Wilson CA,
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Craig MC,
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Schmalenberger KM,
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Eisenlohr-Moul TA,
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Cullen AE</span><br />
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<span class="medgenPMjournal">J Affect Disord</span>
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2024 Mar 15;349:534-540.
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Epub 2024 Jan 8
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doi: 10.1016/j.jad.2024.01.066.
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||
<span class="bold">PMID: </span><a href="/pubmed/38199397" target="_blank">38199397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37543051">A systematic review of cannabidiol trials in neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parrella NF,
|
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Hill AT,
|
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Enticott PG,
|
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Barhoun P,
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Bower IS,
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Ford TC</span><br />
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<span class="medgenPMjournal">Pharmacol Biochem Behav</span>
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2023 Sep;230:173607.
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Epub 2023 Aug 4
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doi: 10.1016/j.pbb.2023.173607.
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<span class="bold">PMID: </span><a href="/pubmed/37543051" target="_blank">37543051</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36642718">Global prevalence of Rett syndrome: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Petriti U,
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Dudman DC,
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Scosyrev E,
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Lopez-Leon S</span><br />
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<span class="medgenPMjournal">Syst Rev</span>
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2023 Jan 16;12(1):5.
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doi: 10.1186/s13643-023-02169-6.
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<span class="bold">PMID: </span><a href="/pubmed/36642718" target="_blank">36642718</a><a href="/pmc/articles/PMC9841621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/33341437">Restless sleep in children: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">DelRosso LM,
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Picchietti DL,
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Spruyt K,
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Bruni O,
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Garcia-Borreguero D,
|
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Kotagal S,
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||
Owens JA,
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Simakajornboon N,
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Ferri R;
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International Restless Legs Syndrome Study Group (IRLSSG)</span><br />
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<span class="medgenPMjournal">Sleep Med Rev</span>
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2021 Apr;56:101406.
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||
Epub 2020 Dec 1
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||
doi: 10.1016/j.smrv.2020.101406.
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<span class="bold">PMID: </span><a href="/pubmed/33341437" target="_blank">33341437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24556010">Neurobehavioural effects of developmental toxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grandjean P,
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Landrigan PJ</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/24556010" target="_blank">24556010</a><a href="/pmc/articles/PMC4418502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parenti-mignot%20neurodevelopmental%20syndrome%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 (230)</a></div></div>
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