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<meta name="keywords" content="C1835194, abnormal size of corpus callosum, finding, large corpus callosum, thick corpus callosum, thickened corpus callosum, 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="Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=371993
|
||
ConceptID=C1835194
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thick corpus callosum</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371993</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:">C1835194</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Large corpus callosum; Thickened corpus callosum</td></tr>
|
||
<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:0007074">HP:0007074</a></td></tr>
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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">Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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|
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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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835194[DISCUI]&test_type=Clinical" ref="ncbi_uid=371993">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371993" ref="ncbi_uid=371993">V</a></span></span><span class="TLline">Thick corpus callosum</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/866852" ref="tree=MeSH" title="MedGen record for Abnormal cerebral subcortex morphology">Abnormal cerebral subcortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/181756" ref="tree=MeSH" title="MedGen record for Abnormal cerebral white matter morphology">Abnormal cerebral white matter morphology</a></span><ul><li><span class="TLline"><a href="/medgen/334198" ref="tree=MeSH" title="MedGen record for Abnormal corpus callosum morphology">Abnormal corpus callosum morphology</a></span><ul><li><span class="matched_ds">Thick corpus callosum</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78539"><div><strong>Cohen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78539</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.">C0265223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78539">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347474"><div><strong>Temtamy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347474</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.">C1857512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413258"><div><strong>Cortical dysplasia-focal epilepsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413258</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.">C2750246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413258">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_812742"><div><strong>Macrocephaly/megalencephaly syndrome, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812742</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.">C3806412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812742">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815750"><div><strong>Complex cortical dysplasia with other brain malformations 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815750</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.">C3809420</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815750">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815954"><div><strong>Developmental and epileptic encephalopathy, 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815954</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.">C3809624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815954">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_861164"><div><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861164</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.">C4012727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/861164">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863179"><div><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863179</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.">C4014742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863179">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902184"><div><strong>Syndromic X-linked intellectual disability 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902184</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.">C4225417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902184">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934733"><div><strong>Macrocephaly, dysmorphic facies, and psychomotor retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934733</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.">C4310766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934733">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623344"><div><strong>Intellectual disability, autosomal dominant 53</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623344</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.">C4540481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623344">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648439"><div><strong>Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648439</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.">C4748927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684848"><div><strong>Intellectual developmental disorder with speech delay, autism, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684848</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.">C5231456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF) is a developmental disorder with the most highly consistent features of hypotonia, relatively small stature, developmental delay, behavioral problems, and impaired intellectual development. Variable dysmorphic facial features are present, without a consistent pattern. A predisposition to moyamoya angiopathy has been observed (Martin et al., 2019, Pinard et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684848">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1714920"><div><strong>Diets-Jongmans syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714920</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.">C5394263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714920">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="divPopper rprt" id="rdis_1855201"><div><strong>Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855201</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.">C5935589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (NEDHBA) is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles (Fasham et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1855201">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cohen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex cortical dysplasia with other brain malformations 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia-focal epilepsy syndrome</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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diets-Jongmans syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with speech delay, autism, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 53</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly, dysmorphic facies, and psychomotor retardation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_812742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly/megalencephaly syndrome, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_861164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863179" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 34</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Temtamy syndrome</a></div></span></div></div>
|
||
</div>
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|
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<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/22218741">Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld JA,
|
||
Amrom D,
|
||
Andermann E,
|
||
Andermann F,
|
||
Veilleux M,
|
||
Curry C,
|
||
Fisher J,
|
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Deputy S,
|
||
Aylsworth AS,
|
||
Powell CM,
|
||
Manickam K,
|
||
Heese B,
|
||
Maisenbacher M,
|
||
Stevens C,
|
||
Ellison JW,
|
||
Upton S,
|
||
Moeschler J,
|
||
Torres-Martinez W,
|
||
Stevens A,
|
||
Marion R,
|
||
Pereira EM,
|
||
Babcock M,
|
||
Morrow B,
|
||
Sahoo T,
|
||
Lamb AN,
|
||
Ballif BC,
|
||
Paciorkowski AR,
|
||
Shaffer LG</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2012 Feb;13(1):31-47.
|
||
Epub 2012 Jan 5
|
||
doi: 10.1007/s10048-011-0306-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22218741" target="_blank">22218741</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22thick%20corpus%20callosum%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 (1)</a></div></div>
|
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</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/39823982">Thick and Short Fetal Corpus Callosum on Ultrasound: Added Value of Fetal Magnetic Resonance Diffusion Tensor Imaging With Tractography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desai S,
|
||
Desai T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2025 Mar;164:10-16.
|
||
Epub 2024 Dec 21
|
||
doi: 10.1016/j.pediatrneurol.2024.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39823982" target="_blank">39823982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36593604">Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneeweiss MR,
|
||
Dale B,
|
||
Ejaz R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2022 Dec 7;15(12)
|
||
doi: 10.1136/bcr-2022-248995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36593604" target="_blank">36593604</a><a href="/pmc/articles/PMC9730367" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30231930">Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguolo A,
|
||
Antoniazzi F,
|
||
Spano A,
|
||
Fiorini E,
|
||
Gaudino R,
|
||
Mauro M,
|
||
Cantalupo G,
|
||
Biban P,
|
||
Maitz S,
|
||
Cavarzere P</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2018 Sep 19;44(1):110.
|
||
doi: 10.1186/s13052-018-0568-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30231930" target="_blank">30231930</a><a href="/pmc/articles/PMC6146629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26282069">Thick corpus callosum in the second trimester can be transient and is of uncertain significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shinar S,
|
||
Har-Toov J,
|
||
Lerman-Sagie T,
|
||
Malinger G</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2016 Oct;48(4):452-457.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1002/uog.15678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26282069" target="_blank">26282069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23274687">Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quattrocchi CC,
|
||
Zanni G,
|
||
Napolitano A,
|
||
Longo D,
|
||
Cordelli DM,
|
||
Barresi S,
|
||
Randisi F,
|
||
Valente EM,
|
||
Verdolotti T,
|
||
Genovese E,
|
||
Specchio N,
|
||
Vitiello G,
|
||
Spiegel R,
|
||
Bertini E,
|
||
Bernardi B</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2013 Feb;14(1):77-83.
|
||
Epub 2012 Dec 30
|
||
doi: 10.1007/s10048-012-0352-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23274687" target="_blank">23274687</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thick%20corpus%20callosum%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32962467">Short and thick corpus callosum - the thin border between a minor anatomical variant to very poor outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardin R,
|
||
Leibovitz Z,
|
||
Mashiach R,
|
||
Ben-Sira L,
|
||
Salman L</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Sep;35(17):3305-3308.
|
||
Epub 2020 Sep 22
|
||
doi: 10.1080/14767058.2020.1818208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32962467" target="_blank">32962467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34167384">Thick corpus callosum: An underrecognised but important diagnostic clue.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jogu SS,
|
||
Singanamalla B,
|
||
Madaan P,
|
||
Ahuja CK,
|
||
Saini L</span><br />
|
||
<span class="medgenPMjournal">Trop Doct</span>
|
||
2021 Oct;51(4):604-605.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1177/00494755211026281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34167384" target="_blank">34167384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26282069">Thick corpus callosum in the second trimester can be transient and is of uncertain significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shinar S,
|
||
Har-Toov J,
|
||
Lerman-Sagie T,
|
||
Malinger G</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2016 Oct;48(4):452-457.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1002/uog.15678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26282069" target="_blank">26282069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25797487">Timing in neural maturation: arrest, delay, precociousness, and temporal determination of malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarnat HB,
|
||
Philippart M,
|
||
Flores-Sarnat L,
|
||
Wei XC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2015 May;52(5):473-86.
|
||
Epub 2015 Feb 9
|
||
doi: 10.1016/j.pediatrneurol.2015.01.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25797487" target="_blank">25797487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8933878">Prenatal MR diagnosis of a thick corpus callosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rypens F,
|
||
Sonigo P,
|
||
Aubry MC,
|
||
Delezoide AL,
|
||
Cessot F,
|
||
Brunelle F</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1996 Nov-Dec;17(10):1918-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8933878" target="_blank">8933878</a><a href="/pmc/articles/PMC8337549" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thick%20corpus%20callosum%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39823982">Thick and Short Fetal Corpus Callosum on Ultrasound: Added Value of Fetal Magnetic Resonance Diffusion Tensor Imaging With Tractography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desai S,
|
||
Desai T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2025 Mar;164:10-16.
|
||
Epub 2024 Dec 21
|
||
doi: 10.1016/j.pediatrneurol.2024.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39823982" target="_blank">39823982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30231930">Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguolo A,
|
||
Antoniazzi F,
|
||
Spano A,
|
||
Fiorini E,
|
||
Gaudino R,
|
||
Mauro M,
|
||
Cantalupo G,
|
||
Biban P,
|
||
Maitz S,
|
||
Cavarzere P</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2018 Sep 19;44(1):110.
|
||
doi: 10.1186/s13052-018-0568-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30231930" target="_blank">30231930</a><a href="/pmc/articles/PMC6146629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28893434">Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura Y,
|
||
Togawa Y,
|
||
Okuno Y,
|
||
Muramatsu H,
|
||
Nakabayashi K,
|
||
Kuroki Y,
|
||
Ieda D,
|
||
Hori I,
|
||
Negishi Y,
|
||
Togawa T,
|
||
Hattori A,
|
||
Kojima S,
|
||
Saitoh S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2018 Feb;40(2):134-139.
|
||
Epub 2017 Oct 12
|
||
doi: 10.1016/j.braindev.2017.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28893434" target="_blank">28893434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26282069">Thick corpus callosum in the second trimester can be transient and is of uncertain significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shinar S,
|
||
Har-Toov J,
|
||
Lerman-Sagie T,
|
||
Malinger G</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2016 Oct;48(4):452-457.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1002/uog.15678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26282069" target="_blank">26282069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19449354">Thick fetal corpus callosum: an ominous sign?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lerman-Sagie T,
|
||
Ben-Sira L,
|
||
Achiron R,
|
||
Schreiber L,
|
||
Hermann G,
|
||
Lev D,
|
||
Kidron D,
|
||
Malinger G</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2009 Jul;34(1):55-61.
|
||
doi: 10.1002/uog.6356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19449354" target="_blank">19449354</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thick%20corpus%20callosum%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30773818">Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlston CM,
|
||
Bleyl SB,
|
||
Andrews A,
|
||
Meyers L,
|
||
Brown S,
|
||
Bayrak-Toydemir P,
|
||
Bale JF,
|
||
Botto LD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 May;179(5):792-796.
|
||
Epub 2019 Feb 17
|
||
doi: 10.1002/ajmg.a.61091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30773818" target="_blank">30773818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28893434">Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura Y,
|
||
Togawa Y,
|
||
Okuno Y,
|
||
Muramatsu H,
|
||
Nakabayashi K,
|
||
Kuroki Y,
|
||
Ieda D,
|
||
Hori I,
|
||
Negishi Y,
|
||
Togawa T,
|
||
Hattori A,
|
||
Kojima S,
|
||
Saitoh S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2018 Feb;40(2):134-139.
|
||
Epub 2017 Oct 12
|
||
doi: 10.1016/j.braindev.2017.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28893434" target="_blank">28893434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22218741">Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld JA,
|
||
Amrom D,
|
||
Andermann E,
|
||
Andermann F,
|
||
Veilleux M,
|
||
Curry C,
|
||
Fisher J,
|
||
Deputy S,
|
||
Aylsworth AS,
|
||
Powell CM,
|
||
Manickam K,
|
||
Heese B,
|
||
Maisenbacher M,
|
||
Stevens C,
|
||
Ellison JW,
|
||
Upton S,
|
||
Moeschler J,
|
||
Torres-Martinez W,
|
||
Stevens A,
|
||
Marion R,
|
||
Pereira EM,
|
||
Babcock M,
|
||
Morrow B,
|
||
Sahoo T,
|
||
Lamb AN,
|
||
Ballif BC,
|
||
Paciorkowski AR,
|
||
Shaffer LG</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2012 Feb;13(1):31-47.
|
||
Epub 2012 Jan 5
|
||
doi: 10.1007/s10048-011-0306-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22218741" target="_blank">22218741</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thick%20corpus%20callosum%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1835194%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835194%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1835194%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Thick%20corpus%20callosum" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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