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<meta name="keywords" content="C3279675, disease or syndrome, finding, frontoparietal polymicrogyria, perisylvian polymicrogyria, polymicrogyria, frontoparietal, polymicrogyria, perisylvian, 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="Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly." /><meta name="robots" content="index,nofollow,noarchive" />
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UID=481305
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ConceptID=C3279675
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Perisylvian polymicrogyria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481305</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:">C3279675</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Polymicrogyria, frontoparietal; Polymicrogyria, perisylvian</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012650">HP:0012650</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Perisylvian polymicrogyria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871221" ref="tree=MeSH" title="MedGen record for Abnormal cerebral cortex morphology">Abnormal cerebral cortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/343457" ref="tree=MeSH" title="MedGen record for Abnormal cortical gyration">Abnormal cortical gyration</a></span><ul><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span><ul><li><span class="matched_ds">Perisylvian polymicrogyria</span><ul><li><span class="TLline"><a href="/medgen/1696404" ref="tree=MeSH" title="MedGen record for Unilateral perisylvian polymicrogyria">Unilateral perisylvian polymicrogyria</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_333142"><div><strong>Warburg micro syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333142</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.">C1838625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376107"><div><strong>Bilateral frontoparietal polymicrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376107</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.">C1847352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-14A (CDCBM14A) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence. Additional features may include strabismus, nystagmus, exo- or esotropia, axial hypotonia, and spasticity. Brain imaging shows bilateral frontoparietal polymicrogyria, a frontal-predominant cobblestone malformation of the cortex, scalloping of the cortical/white matter junction, enlarged ventricles, and hypoplasia of the pons, brainstem, and cerebellum. The disorder can be classified as a malformation of cortical development (summary by Parrini et al., 2009; Luo et al., 2011; Zulfiqar et al., 2021). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376107">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355314"><div><strong>Spondyloepimetaphyseal dysplasia, Genevieve type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355314</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.">C1864872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816595"><div><strong>Warburg micro syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816595</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.">C3810265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816595">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816615"><div><strong>Proximal myopathy with extrapyramidal signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816615</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.">C3810285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816735"><div><strong>Polymicrogyria, bilateral perisylvian, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816735</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.">C3810405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-14B (CDCBM14B) is an autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have variable intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899689"><div><strong>Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899689</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.">C4225259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899689">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899982"><div><strong>Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899982</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.">C4225295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899982">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648362"><div><strong>Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648362</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.">C4749003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017) For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648362">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675664"><div><strong>Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675664</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.">C5193102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by Platzer et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675664">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750805"><div><strong>Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750805</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.">C5436848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by Garcia-Cazorla et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794227"><div><strong>Developmental and epileptic encephalopathy 98</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794227</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.">C5562017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-98 (DEE98) is characterized by onset of seizures in the first decade (range infancy to late childhood) associated with variable global developmental delay. Other features may include hypotonia, spasticity, and quadriparesis. Brain imaging may be normal or show nonspecific and variable abnormalities, including polymicrogyria. The severity is variable; some patients may die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794227">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794228"><div><strong>Developmental and epileptic encephalopathy 99</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794228</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.">C5562018</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794228">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral frontoparietal polymicrogyria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 98</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 99</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria, bilateral perisylvian, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal myopathy with extrapyramidal signs</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Genevieve type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 4</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16240336">Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piao X,
|
||
Chang BS,
|
||
Bodell A,
|
||
Woods K,
|
||
Benzeev B,
|
||
Topcu M,
|
||
Guerrini R,
|
||
Goldberg-Stern H,
|
||
Sztriha L,
|
||
Dobyns WB,
|
||
Barkovich AJ,
|
||
Walsh CA</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2005 Nov;58(5):680-7.
|
||
doi: 10.1002/ana.20616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16240336" target="_blank">16240336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12185771">Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2002 Apr;11 Suppl A:532-43; quiz 544-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12185771" target="_blank">12185771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11749114">Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2001 Oct;10(7):532-43; quiz 544-7.
|
||
doi: 10.1053/seiz.2001.0650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11749114" target="_blank">11749114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22perisylvian%20polymicrogyria%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 (3)</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/33015733">Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Cazorla À,
|
||
Verdura E,
|
||
Juliá-Palacios N,
|
||
Anderson EN,
|
||
Goicoechea L,
|
||
Planas-Serra L,
|
||
Tsogtbaatar E,
|
||
Dsouza NR,
|
||
Schlüter A,
|
||
Urreizti R,
|
||
Tarnowski JM,
|
||
Gavrilova RH;
|
||
SHMT2 Working Group,
|
||
Ruiz M,
|
||
Rodríguez-Palmero A,
|
||
Fourcade S,
|
||
Cogné B,
|
||
Besnard T,
|
||
Vincent M,
|
||
Bézieau S,
|
||
Folmes CD,
|
||
Zimmermann MT,
|
||
Klee EW,
|
||
Pandey UB,
|
||
Artuch R,
|
||
Cousin MA,
|
||
Pujol A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2020 Dec;140(6):971-975.
|
||
Epub 2020 Oct 5
|
||
doi: 10.1007/s00401-020-02223-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33015733" target="_blank">33015733</a><a href="/pmc/articles/PMC7665968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29738522">De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heinzen EL,
|
||
O'Neill AC,
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<div class="nl"><a target="_blank" href="/pubmed/25855803">Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pagnamenta AT,
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Howard MF,
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Popitsch N,
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Quaghebeur G,
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Cox H,
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<div class="portlet_content ln"><span class="medgenPMauthor">Leventer RJ,
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<div class="nl"><a target="_blank" href="/pubmed/38459574">Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fetta A,
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Toni F,
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Ricci E,
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Rocca A,
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Gambi C,
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Sperti G,
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Cagnazzo V,
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Accorsi P,
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Bartolini E,
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Bernardo P,
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Canevini MP,
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Ferrari AR,
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Giordano L,
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Locatelli C,
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Mancardi M,
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Orsini A,
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Pippucci T,
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Pruna D,
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Rosati A,
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Suppiej A,
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Tagliani S,
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Vaisfeld A,
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Vignoli A,
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Izumi K,
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Krantz I,
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<div class="nl"><a target="_blank" href="/pubmed/37975178">A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Salokivi T,
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Parkkola R,
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<div class="nl"><a target="_blank" href="/pubmed/30680716">Speech and language in bilateral perisylvian polymicrogyria: a systematic review.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/30680716" target="_blank">30680716</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25855803">Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pagnamenta AT,
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Howard MF,
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Wisniewski E,
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Popitsch N,
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Knight SJ,
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Keays DA,
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Quaghebeur G,
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Cox H,
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Cox P,
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Balla T,
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Taylor JC,
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<div class="nl"><a target="_blank" href="/pubmed/9860077">Abdominal epilepsy in an adolescent with bilateral perisylvian polymicrogyria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">García-Herrero D,
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Fernández-Torre JL,
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Barrasa J,
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Calleja J,
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<div class="nl"><a target="_blank" href="/pubmed/34118959">Symptomatic eating epilepsy: two novel pediatric patients and review of literature.</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/9860077">Abdominal epilepsy in an adolescent with bilateral perisylvian polymicrogyria.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">García-Herrero D,
|
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Fernández-Torre JL,
|
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Barrasa J,
|
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Calleja J,
|
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Pascual J</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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<span class="bold">PMID: </span><a href="/pubmed/9860077" target="_blank">9860077</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perisylvian%20polymicrogyria%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35623960">Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lacombe D,
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Van-Gils J,
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Lebrun M,
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<span class="bold">PMID: </span><a href="/pubmed/35623960" target="_blank">35623960</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34118959">Symptomatic eating epilepsy: two novel pediatric patients and review of literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vercellino F,
|
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Siri L,
|
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Brisca G,
|
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Scala M,
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Riva A,
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Severino M,
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Striano P</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/34118959" target="_blank">34118959</a><a href="/pmc/articles/PMC8199818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25855803">Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pagnamenta AT,
|
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Howard MF,
|
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Wisniewski E,
|
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Popitsch N,
|
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Knight SJ,
|
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Keays DA,
|
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Quaghebeur G,
|
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Cox H,
|
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Cox P,
|
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Balla T,
|
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Taylor JC,
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Kini U</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2015 Jul 1;24(13):3732-41.
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Epub 2015 Apr 8
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doi: 10.1093/hmg/ddv117.
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<span class="bold">PMID: </span><a href="/pubmed/25855803" target="_blank">25855803</a><a href="/pmc/articles/PMC4459391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/23951691">Magnetic resonance imaging findings in pediatric bilateral vocal fold dysfunction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Steiner JI,
|
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Fink AM,
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Berkowitz RG</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23951691" target="_blank">23951691</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17890406">Verbal and gestural communication in children with bilateral perisylvian polymicrogyria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saletti V,
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Bulgheroni S,
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D'Incerti L,
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Franceschetti S,
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Molteni B,
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Airaghi G,
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Pantaleoni C,
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D'Arrigo S,
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<span class="bold">PMID: </span><a href="/pubmed/17890406" target="_blank">17890406</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perisylvian%20polymicrogyria%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38459574">Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Fetta A,
|
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Toni F,
|
||
Pettenuzzo I,
|
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Ricci E,
|
||
Rocca A,
|
||
Gambi C,
|
||
Soliani L,
|
||
Di Pisa V,
|
||
Martini S,
|
||
Sperti G,
|
||
Cagnazzo V,
|
||
Accorsi P,
|
||
Bartolini E,
|
||
Battaglia D,
|
||
Bernardo P,
|
||
Canevini MP,
|
||
Ferrari AR,
|
||
Giordano L,
|
||
Locatelli C,
|
||
Mancardi M,
|
||
Orsini A,
|
||
Pippucci T,
|
||
Pruna D,
|
||
Rosati A,
|
||
Suppiej A,
|
||
Tagliani S,
|
||
Vaisfeld A,
|
||
Vignoli A,
|
||
Izumi K,
|
||
Krantz I,
|
||
Cordelli DM</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Mar 8;19(1):107.
|
||
doi: 10.1186/s13023-024-03065-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38459574" target="_blank">38459574</a><a href="/pmc/articles/PMC10921669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/33772511">Epilepsy phenotypes associated with MAP1B-related brain malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arya R,
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Spaeth C,
|
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Zhang W</span><br />
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<span class="medgenPMjournal">Epileptic Disord</span>
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2021 Apr 1;23(2):392-396.
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doi: 10.1684/epd.2021.1258.
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||
<span class="bold">PMID: </span><a href="/pubmed/33772511" target="_blank">33772511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25855803">Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagnamenta AT,
|
||
Howard MF,
|
||
Wisniewski E,
|
||
Popitsch N,
|
||
Knight SJ,
|
||
Keays DA,
|
||
Quaghebeur G,
|
||
Cox H,
|
||
Cox P,
|
||
Balla T,
|
||
Taylor JC,
|
||
Kini U</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Jul 1;24(13):3732-41.
|
||
Epub 2015 Apr 8
|
||
doi: 10.1093/hmg/ddv117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25855803" target="_blank">25855803</a><a href="/pmc/articles/PMC4459391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23951691">Magnetic resonance imaging findings in pediatric bilateral vocal fold dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steiner JI,
|
||
Fink AM,
|
||
Berkowitz RG</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
2013 Jul;122(7):417-20.
|
||
doi: 10.1177/000348941312200701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23951691" target="_blank">23951691</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10371547">Bilateral perisylvian polymicrogyria in three generations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borgatti R,
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Triulzi F,
|
||
Zucca C,
|
||
Piccinelli P,
|
||
Balottin U,
|
||
Carrozzo R,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1999 Jun 10;52(9):1910-3.
|
||
doi: 10.1212/wnl.52.9.1910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10371547" target="_blank">10371547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perisylvian%20polymicrogyria%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 (37)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/30680716">Speech and language in bilateral perisylvian polymicrogyria: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braden RO,
|
||
Leventer RJ,
|
||
Jansen A,
|
||
Scheffer IE,
|
||
Morgan AT</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2019 Oct;61(10):1145-1152.
|
||
Epub 2019 Jan 25
|
||
doi: 10.1111/dmcn.14153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30680716" target="_blank">30680716</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perisylvian%20polymicrogyria%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 (1)</a></div></div>
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