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<meta name="keywords" content="C0431384, colpocephaly, congenital abnormality, finding, 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="Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=98131
|
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ConceptID=C0431384
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Colpocephaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98131</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:">C0431384</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>colpocephaly</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Colpocephaly (253160006)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030048">HP:0030048</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0022236" target="_blank">MONDO:0022236</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_content ln">Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [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 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">Colpocephaly</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><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/871242" ref="tree=MeSH" title="MedGen record for Abnormal cerebral ventricle morphology">Abnormal cerebral ventricle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868270" ref="tree=MeSH" title="MedGen record for Abnormal lateral ventricle morphology">Abnormal lateral ventricle morphology</a></span><ul><li><span class="matched_ds">Colpocephaly</span></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">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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.">C0175694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163210"><div><strong>Linear skin defects with multiple congenital anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163210</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.">C0796070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323016"><div><strong>Fanconi anemia complementation group I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323016</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.">C1836861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323016">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381208"><div><strong>Genitopatellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381208</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.">C1853566</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381208">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346552"><div><strong>Progressive encephalopathy with leukodystrophy due to DECR deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346552</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.">C1857252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347149"><div><strong>Osteodysplastic primordial dwarfism, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347149</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.">C1859452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RNU4atac-opathy encompasses the phenotypic spectrum of biallelic RNU4ATAC pathogenic variants, including the three historically designated clinical phenotypes microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Roifman syndrome, and Lowry-Wood syndrome, as well as varying combinations of the disease features / system involvement that do not match specific defined phenotypes. Findings present in all affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462811"><div><strong>Lissencephaly 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462811</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.">C3151461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lissencephaly-4 with microcephaly (LIS4) is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profoundly impaired intellectual development. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766854"><div><strong>Peroxisome biogenesis disorder 5A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766854</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.">C3553940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766854">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766861"><div><strong>Peroxisome biogenesis disorder 6A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766861</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.">C3553947</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767605"><div><strong>Hydrocephalus, nonsyndromic, autosomal recessive 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767605</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.">C3554691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767605">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934611"><div><strong>Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934611</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.">C4310644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934611">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682553"><div><strong>Khan-Khan-Katsanis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682553</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.">C5193110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684884"><div><strong>Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684884</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.">C5231442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684884">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684772"><div><strong>Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684772</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.">C5231481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684772">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1714826"><div><strong>Holoprosencephaly 13, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714826</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.">C5393308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019). For a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714826">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720440"><div><strong>Genitourinary and/or brain malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720440</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.">C5394158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, most commonly involving the brain and/or urogenital systems. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye (strabismus, microphthalmia/anophthalmia) and skeletal abnormalities (kyphoscoliosis, joint contractures) can also be present in affected individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a difference of sex development (DSD) with gonadal dysgenesis associated with ambiguous genitalia or phenotypic female genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799530"><div><strong>Weiss-Kruszka syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799530</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.">C5568107</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech delay. Affected individuals may also have ear anomalies, feeding difficulties (sometimes requiring placement of a gastrostomy tube), and congenital heart defects. There is significant variability in the clinical features, even between affected members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799530">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803456"><div><strong>Neurodevelopmental disorder with neuromuscular and skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803456</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.">C5676965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800957"><div><strong>Dworschak-Punetha neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800957</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.">C5677017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824008"><div><strong>Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824008</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.">C5774235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824024"><div><strong>Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824024</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.">C5774251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824024">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824043"><div><strong>Cortical dysplasia, complex, with other brain malformations 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824043</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.">C5774270</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-11 (CDCBM11) is an autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects (Qian et al., 2022). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824043">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841095"><div><strong>Developmental and epileptic encephalopathy, 31B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841095</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.">C5830459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-31B (DEE31B) is an autosomal recessive neurologic disorder with early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay (Yigit et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841095">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841145"><div><strong>Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841145</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.">C5830509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861832"><div><strong>Neurodevelopmental disorder with progressive movement abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861832</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.">C5935606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, moderately to severely impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function; parkinsonism may develop in older patients. Additional more variable features include seizures, dysmorphic facial features, oculomotor defects, and brain imaging abnormalities (Kaiyrzhanov et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861832">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia, complex, with other brain malformations 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 31B</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dworschak-Punetha neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitopatellar syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (26)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitourinary and/or brain malformation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 13, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus, nonsyndromic, autosomal recessive 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Khan-Khan-Katsanis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824024" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with neuromuscular and skeletal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with progressive movement abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteodysplastic primordial dwarfism, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 5A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 6A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive encephalopathy with leukodystrophy due to DECR deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weiss-Kruszka syndrome</a></div></span></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/36943435">Toxoplasma gondii infections in pediatric neurosurgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caceres A,
|
||
Caceres-Alan A,
|
||
Caceres-Alan T</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Feb;40(2):295-301.
|
||
Epub 2023 Mar 21
|
||
doi: 10.1007/s00381-023-05915-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36943435" target="_blank">36943435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35993634">Hydrocephalus in encephalocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akyol ME,
|
||
Çelegen I,
|
||
Basar I,
|
||
Arabacı O</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2022 Aug;26(15):5399-5405.
|
||
doi: 10.26355/eurrev_202208_29407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35993634" target="_blank">35993634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32979048">Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D,
|
||
Teinert J,
|
||
Behne R,
|
||
Wimmer M,
|
||
D'Amore A,
|
||
Eberhardt K,
|
||
Brechmann B,
|
||
Ziegler M,
|
||
Jensen DM,
|
||
Nagabhyrava P,
|
||
Geisel G,
|
||
Carmody E,
|
||
Shamshad U,
|
||
Dies KA,
|
||
Yuskaitis CJ,
|
||
Salussolia CL,
|
||
Ebrahimi-Fakhari D,
|
||
Pearson TS,
|
||
Saffari A,
|
||
Ziegler A,
|
||
Kölker S,
|
||
Volkmann J,
|
||
Wiesener A,
|
||
Bearden DR,
|
||
Lakhani S,
|
||
Segal D,
|
||
Udwadia-Hegde A,
|
||
Martinuzzi A,
|
||
Hirst J,
|
||
Perlman S,
|
||
Takiyama Y,
|
||
Xiromerisiou G,
|
||
Vill K,
|
||
Walker WO,
|
||
Shukla A,
|
||
Dubey Gupta R,
|
||
Dahl N,
|
||
Aksoy A,
|
||
Verhelst H,
|
||
Delgado MR,
|
||
Kremlikova Pourova R,
|
||
Sadek AA,
|
||
Elkhateeb NM,
|
||
Blumkin L,
|
||
Brea-Fernández AJ,
|
||
Dacruz-Álvarez D,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Miguel D,
|
||
Heine C,
|
||
Schlump JU,
|
||
Langen H,
|
||
Baets J,
|
||
Bulk S,
|
||
Darvish H,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Lim-Melia E,
|
||
Aydinli N,
|
||
Alanay Y,
|
||
El-Rashidy O,
|
||
Nampoothiri S,
|
||
Patel C,
|
||
Beetz C,
|
||
Bauer P,
|
||
Yoon G,
|
||
Guillot M,
|
||
Miller SP,
|
||
Bourinaris T,
|
||
Houlden H,
|
||
Robelin L,
|
||
Anheim M,
|
||
Alamri AS,
|
||
Mahmoud AAH,
|
||
Inaloo S,
|
||
Habibzadeh P,
|
||
Faghihi MA,
|
||
Jansen AC,
|
||
Brock S,
|
||
Roubertie A,
|
||
Darras BT,
|
||
Agrawal PB,
|
||
Santorelli FM,
|
||
Gleeson J,
|
||
Zaki MS,
|
||
Sheikh SI,
|
||
Bennett JT,
|
||
Sahin M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Oct 1;143(10):2929-2944.
|
||
doi: 10.1093/brain/awz307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32979048" target="_blank">32979048</a><a href="/pmc/articles/PMC7780481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12504316">Femoral-facial syndrome with malformations in the central nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leal E,
|
||
Macías-Gómez N,
|
||
Rodríguez L,
|
||
Mercado FM,
|
||
Barros-Núñez P</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
2003 Jan-Feb;27(1):23-6.
|
||
doi: 10.1016/s0899-7071(02)00496-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12504316" target="_blank">12504316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8771174">MRI findings of Zellweger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakai A,
|
||
Shigematsu Y,
|
||
Nishida K,
|
||
Kikawa Y,
|
||
Konishi Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1995 Nov;13(4):346-8.
|
||
doi: 10.1016/0887-8994(95)00215-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8771174" target="_blank">8771174</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colpocephaly%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35882526">Axenfeld-Rieger syndrome: more than meets the eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reis LM,
|
||
Maheshwari M,
|
||
Capasso J,
|
||
Atilla H,
|
||
Dudakova L,
|
||
Thompson S,
|
||
Zitano L,
|
||
Lay-Son G,
|
||
Lowry RB,
|
||
Black J,
|
||
Lee J,
|
||
Shue A,
|
||
Kremlikova Pourova R,
|
||
Vaneckova M,
|
||
Skalicka P,
|
||
Jedlickova J,
|
||
Trkova M,
|
||
Williams B,
|
||
Richard G,
|
||
Bachman K,
|
||
Seeley AH,
|
||
Costakos D,
|
||
Glaser TM,
|
||
Levin AV,
|
||
Liskova P,
|
||
Murray JC,
|
||
Semina EV</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Apr;60(4):368-379.
|
||
Epub 2022 Jul 26
|
||
doi: 10.1136/jmg-2022-108646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35882526" target="_blank">35882526</a><a href="/pmc/articles/PMC9912354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35993634">Hydrocephalus in encephalocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akyol ME,
|
||
Çelegen I,
|
||
Basar I,
|
||
Arabacı O</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2022 Aug;26(15):5399-5405.
|
||
doi: 10.26355/eurrev_202208_29407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35993634" target="_blank">35993634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32979048">Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D,
|
||
Teinert J,
|
||
Behne R,
|
||
Wimmer M,
|
||
D'Amore A,
|
||
Eberhardt K,
|
||
Brechmann B,
|
||
Ziegler M,
|
||
Jensen DM,
|
||
Nagabhyrava P,
|
||
Geisel G,
|
||
Carmody E,
|
||
Shamshad U,
|
||
Dies KA,
|
||
Yuskaitis CJ,
|
||
Salussolia CL,
|
||
Ebrahimi-Fakhari D,
|
||
Pearson TS,
|
||
Saffari A,
|
||
Ziegler A,
|
||
Kölker S,
|
||
Volkmann J,
|
||
Wiesener A,
|
||
Bearden DR,
|
||
Lakhani S,
|
||
Segal D,
|
||
Udwadia-Hegde A,
|
||
Martinuzzi A,
|
||
Hirst J,
|
||
Perlman S,
|
||
Takiyama Y,
|
||
Xiromerisiou G,
|
||
Vill K,
|
||
Walker WO,
|
||
Shukla A,
|
||
Dubey Gupta R,
|
||
Dahl N,
|
||
Aksoy A,
|
||
Verhelst H,
|
||
Delgado MR,
|
||
Kremlikova Pourova R,
|
||
Sadek AA,
|
||
Elkhateeb NM,
|
||
Blumkin L,
|
||
Brea-Fernández AJ,
|
||
Dacruz-Álvarez D,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Miguel D,
|
||
Heine C,
|
||
Schlump JU,
|
||
Langen H,
|
||
Baets J,
|
||
Bulk S,
|
||
Darvish H,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Lim-Melia E,
|
||
Aydinli N,
|
||
Alanay Y,
|
||
El-Rashidy O,
|
||
Nampoothiri S,
|
||
Patel C,
|
||
Beetz C,
|
||
Bauer P,
|
||
Yoon G,
|
||
Guillot M,
|
||
Miller SP,
|
||
Bourinaris T,
|
||
Houlden H,
|
||
Robelin L,
|
||
Anheim M,
|
||
Alamri AS,
|
||
Mahmoud AAH,
|
||
Inaloo S,
|
||
Habibzadeh P,
|
||
Faghihi MA,
|
||
Jansen AC,
|
||
Brock S,
|
||
Roubertie A,
|
||
Darras BT,
|
||
Agrawal PB,
|
||
Santorelli FM,
|
||
Gleeson J,
|
||
Zaki MS,
|
||
Sheikh SI,
|
||
Bennett JT,
|
||
Sahin M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Oct 1;143(10):2929-2944.
|
||
doi: 10.1093/brain/awz307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32979048" target="_blank">32979048</a><a href="/pmc/articles/PMC7780481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24640213">Shapiro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathur S,
|
||
Mathur A,
|
||
Dubey T,
|
||
Jain S,
|
||
Mathur S,
|
||
Agarwal H,
|
||
Kulshrestha M,
|
||
Jangid R,
|
||
Ram C</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2013 Jun;61(6):418-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24640213" target="_blank">24640213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6978704">Colpocephaly. An error of morphogenesis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg BP</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1982 Apr;39(4):243-6.
|
||
doi: 10.1001/archneur.1982.00510160049011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6978704" target="_blank">6978704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colpocephaly%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 (64)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36943435">Toxoplasma gondii infections in pediatric neurosurgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caceres A,
|
||
Caceres-Alan A,
|
||
Caceres-Alan T</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Feb;40(2):295-301.
|
||
Epub 2023 Mar 21
|
||
doi: 10.1007/s00381-023-05915-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36943435" target="_blank">36943435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27940755">Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tort F,
|
||
Ugarteburu O,
|
||
Torres MA,
|
||
García-Villoria J,
|
||
Girós M,
|
||
Ruiz A,
|
||
Ribes A</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Nov;138(5)
|
||
Epub 2016 Oct 18
|
||
doi: 10.1542/peds.2015-4534.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27940755" target="_blank">27940755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24640213">Shapiro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathur S,
|
||
Mathur A,
|
||
Dubey T,
|
||
Jain S,
|
||
Mathur S,
|
||
Agarwal H,
|
||
Kulshrestha M,
|
||
Jangid R,
|
||
Ram C</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2013 Jun;61(6):418-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24640213" target="_blank">24640213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10663471">Cranial MRI in the Nijmegen breakage syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekiesińska-Figatowska M,
|
||
Chrzanowska KH,
|
||
Sikorska J,
|
||
Walecki J,
|
||
Krajewska-Walasek M,
|
||
Jóźwiak S,
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||
Kleijer WJ</span><br />
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||
<span class="medgenPMjournal">Neuroradiology</span>
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||
2000 Jan;42(1):43-7.
|
||
doi: 10.1007/s002340050011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10663471" target="_blank">10663471</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colpocephaly%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35993634">Hydrocephalus in encephalocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akyol ME,
|
||
Çelegen I,
|
||
Basar I,
|
||
Arabacı O</span><br />
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||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2022 Aug;26(15):5399-5405.
|
||
doi: 10.26355/eurrev_202208_29407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35993634" target="_blank">35993634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31990470">Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali A,
|
||
Yalçın R,
|
||
Ünlüer-Gümüştaş A</span><br />
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||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2019;61(4):525-537.
|
||
doi: 10.24953/turkjped.2019.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31990470" target="_blank">31990470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12504316">Femoral-facial syndrome with malformations in the central nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leal E,
|
||
Macías-Gómez N,
|
||
Rodríguez L,
|
||
Mercado FM,
|
||
Barros-Núñez P</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
2003 Jan-Feb;27(1):23-6.
|
||
doi: 10.1016/s0899-7071(02)00496-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12504316" target="_blank">12504316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12150586">Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flores-Sarnat L</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2002 May;17(5):373-84; discussion 384.
|
||
doi: 10.1177/088307380201700512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12150586" target="_blank">12150586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7480701">Frontal foramina in pediatric skull in cases of congenital hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun JK,
|
||
LeMay DR,
|
||
Couldwell WT,
|
||
Zee C</span><br />
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||
<span class="medgenPMjournal">Radiology</span>
|
||
1995 Nov;197(2):497-9.
|
||
doi: 10.1148/radiology.197.2.7480701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7480701" target="_blank">7480701</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colpocephaly%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21391441">Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Respondek-Liberska M,
|
||
Smigiel R,
|
||
Zielinski A,
|
||
Sasiadek MM</span><br />
|
||
<span class="medgenPMjournal">Ginekol Pol</span>
|
||
2010 Dec;81(12):935-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21391441" target="_blank">21391441</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15136694">Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguglia U,
|
||
Gambardella A,
|
||
Breedveld GJ,
|
||
Oliveri RL,
|
||
Le Piane E,
|
||
Messina D,
|
||
Quattrone A,
|
||
Heutink P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 May 11;62(9):1613-5.
|
||
doi: 10.1212/01.wnl.0000123113.46672.68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15136694" target="_blank">15136694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12504316">Femoral-facial syndrome with malformations in the central nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leal E,
|
||
Macías-Gómez N,
|
||
Rodríguez L,
|
||
Mercado FM,
|
||
Barros-Núñez P</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
2003 Jan-Feb;27(1):23-6.
|
||
doi: 10.1016/s0899-7071(02)00496-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12504316" target="_blank">12504316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8771174">MRI findings of Zellweger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakai A,
|
||
Shigematsu Y,
|
||
Nishida K,
|
||
Kikawa Y,
|
||
Konishi Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1995 Nov;13(4):346-8.
|
||
doi: 10.1016/0887-8994(95)00215-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8771174" target="_blank">8771174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7480701">Frontal foramina in pediatric skull in cases of congenital hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun JK,
|
||
LeMay DR,
|
||
Couldwell WT,
|
||
Zee C</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1995 Nov;197(2):497-9.
|
||
doi: 10.1148/radiology.197.2.7480701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7480701" target="_blank">7480701</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colpocephaly%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 (22)</a></div></div>
|
||
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|
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|
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|
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