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<meta name="keywords" content="C1850601, abnormal brainstem morphology, abnormal shape of brainstem, abnormality of brainstem morphology, abnormality of the brainstem, anatomical abnormality, brainstem abnormalities, 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="An anomaly of the brainstem." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=342543
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ConceptID=C1850601
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal brainstem morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342543</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:">C1850601</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Brainstem abnormalities</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002363">HP:0002363</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An anomaly of the brainstem. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormal brainstem morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><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="matched_ds">Abnormal brainstem morphology</span><ul><li><span class="TLline"><a href="/medgen/868355" ref="tree=MeSH" title="MedGen record for Abnormal brainstem MRI signal intensity">Abnormal brainstem MRI signal intensity</a></span><ul><li><span class="TLline"><a href="/medgen/1864060" ref="tree=MeSH" title="MedGen record for Focal T1 hyperintense brainstem lesion">Focal T1 hyperintense brainstem lesion</a></span></li><li><span class="TLline"><a href="/medgen/868354" ref="tree=MeSH" title="MedGen record for Focal T2 hyperintense brainstem lesion">Focal T2 hyperintense brainstem lesion</a></span></li><li><span class="TLline"><a href="/medgen/868353" ref="tree=MeSH" title="MedGen record for Focal T2 hypointense brainstem lesion">Focal T2 hypointense brainstem lesion</a></span></li><li><span class="TLline"><a href="/medgen/868352" ref="tree=MeSH" title="MedGen record for T2 hypointense brainstem">T2 hypointense brainstem</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868482" ref="tree=MeSH" title="MedGen record for Abnormal brainstem white matter morphology">Abnormal brainstem white matter morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868718" ref="tree=MeSH" title="MedGen record for Abnormal cerebellar peduncle morphology">Abnormal cerebellar peduncle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868717" ref="tree=MeSH" title="MedGen record for Abnormal superior cerebellar peduncle morphology">Abnormal superior cerebellar peduncle morphology</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/82849" ref="tree=MeSH" title="MedGen record for Brain stem compression">Brain stem compression</a></span></li><li><span class="TLline"><a href="/medgen/383739" ref="tree=MeSH" title="MedGen record for Brainstem dysplasia">Brainstem dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1054319" ref="tree=MeSH" title="MedGen record for Brainstem lucency">Brainstem lucency</a></span></li><li><span class="TLline"><a href="/medgen/868347" ref="tree=MeSH" title="MedGen record for Enlarged brainstem">Enlarged brainstem</a></span></li><li><span class="TLline"><a href="/medgen/1841700" ref="tree=MeSH" title="MedGen record for Enlarged tectum">Enlarged tectum</a></span></li><li><span class="TLline"><a href="/medgen/1842052" ref="tree=MeSH" title="MedGen record for Focal necrotic brainstem lesion">Focal necrotic brainstem lesion</a></span></li><li><span class="TLline"><a href="/medgen/866721" ref="tree=MeSH" title="MedGen record for Kinked brainstem">Kinked brainstem</a></span></li><li><span class="TLline"><a href="/medgen/1374384" ref="tree=MeSH" title="MedGen record for Midline brainstem cleft">Midline brainstem cleft</a></span></li><li><span class="TLline"><a href="/medgen/413502" ref="tree=MeSH" title="MedGen record for Tectal plate enlargement">Tectal plate enlargement</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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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_335078"><div><strong>X-linked sideroblastic anemia with ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335078</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.">C1845028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia (SCAX6) is an X-linked recessive disorder characterized by delayed motor development apparent in infancy with delayed walking (often by several years) due to ataxia and poor coordination. Additional features may include dysmetria, dysarthria, spasticity of the lower limbs, hyperreflexia, dysdiadochokinesis, strabismus, and nystagmus. The disorder is slowly progressive, and patients often lose ambulation. Brain imaging usually shows cerebellar atrophy. Most affected individuals have mild hypochromic, microcytic sideroblastic anemia, which may be asymptomatic. Laboratory studies show increased free erythrocyte protoporphyrin (FEP) and ringed sideroblasts on bone marrow biopsy. Female carriers do not have neurologic abnormalities, but may have subtle findings on peripheral blood smear (Pagon et al., 1985; D'Hooghe et al., 2012). For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked sideroblastic anemia with ataxia</a></div></div>
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||
</div>
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||
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<div class="portlet mgSection" id="ID_105">
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<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/36965918">Prenatal diagnosis of X-linked hydrocephalus: The "hydrocephalus" is the focus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
|
||
Li DZ</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2023 Mar;62(2):380-381.
|
||
doi: 10.1016/j.tjog.2022.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36965918" target="_blank">36965918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20brainstem%20morphology)%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 (180)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38087482">Chiari III malformation in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalra R,
|
||
Bamashmous EO,
|
||
Krishnan A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2023 Dec 9;16(12)
|
||
doi: 10.1136/bcr-2023-255677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38087482" target="_blank">38087482</a><a href="/pmc/articles/PMC10729075" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237061">Subacute sclerosing panencephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK,
|
||
Mahadevan A,
|
||
Malhotra HS,
|
||
Rizvi I,
|
||
Kumar N,
|
||
Uniyal R</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2019 Sep;29(5):e2058.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1002/rmv.2058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237061" target="_blank">31237061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28552152">Brainstem and cerebellar cavernous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atwal GS,
|
||
Sarris CE,
|
||
Spetzler RF</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2017;143:291-295.
|
||
doi: 10.1016/B978-0-444-63640-9.00028-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28552152" target="_blank">28552152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
|
||
Basson MA</span><br />
|
||
<span class="medgenPMjournal">J Anat</span>
|
||
2017 Jan;230(1):4-15.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1111/joa.12542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26092869">Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
|
||
Knutzen DM,
|
||
Rue TC,
|
||
Ishak GE,
|
||
Isabella CR,
|
||
Gorden N,
|
||
Adkins J,
|
||
Boyle EA,
|
||
de Lacy N,
|
||
O'Day D,
|
||
Alswaid A,
|
||
Ramadevi A R,
|
||
Lingappa L,
|
||
Lourenço C,
|
||
Martorell L,
|
||
Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Shendure J,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20brainstem%20morphology%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 (3143)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36928037">Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz AAV,
|
||
Feltrini T,
|
||
Chahud F,
|
||
Messias K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2023 May-Jun 01;39(3):e71-e72.
|
||
Epub 2023 Mar 16
|
||
doi: 10.1097/IOP.0000000000002253.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36928037" target="_blank">36928037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534089">Diagnostic Approach to Cerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
|
||
Addour-Boudrahem N,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Aug;20(4):631-658.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s12311-020-01224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534089" target="_blank">33534089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19408994">Radiosurgery for angiographically occult vascular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pham M,
|
||
Gross BA,
|
||
Bendok BR,
|
||
Awad IA,
|
||
Batjer HH</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2009 May;26(5):E16.
|
||
doi: 10.3171/2009.2.FOCUS0923.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19408994" target="_blank">19408994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10387336">Function and dysfunction of supranuclear and internuclear eye movement pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrow MJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1998 Dec;9(6):46-53.
|
||
doi: 10.1097/00055735-199812000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10387336" target="_blank">10387336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1566724">Posterior fossa malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altman NR,
|
||
Naidich TP,
|
||
Braffman BH</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1992 Mar-Apr;13(2):691-724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1566724" target="_blank">1566724</a><a href="/pmc/articles/PMC8333203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20brainstem%20morphology%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 (4619)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32921513">Single- and Multifraction Stereotactic Radiosurgery Dose/Volume Tolerances of the Brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milano MT,
|
||
Grimm J,
|
||
Niemierko A,
|
||
Soltys SG,
|
||
Moiseenko V,
|
||
Redmond KJ,
|
||
Yorke E,
|
||
Sahgal A,
|
||
Xue J,
|
||
Mahadevan A,
|
||
Muacevic A,
|
||
Marks LB,
|
||
Kleinberg LR</span><br />
|
||
<span class="medgenPMjournal">Int J Radiat Oncol Biol Phys</span>
|
||
2021 May 1;110(1):68-86.
|
||
Epub 2020 Sep 11
|
||
doi: 10.1016/j.ijrobp.2020.08.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32921513" target="_blank">32921513</a><a href="/pmc/articles/PMC9387178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237061">Subacute sclerosing panencephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK,
|
||
Mahadevan A,
|
||
Malhotra HS,
|
||
Rizvi I,
|
||
Kumar N,
|
||
Uniyal R</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2019 Sep;29(5):e2058.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1002/rmv.2058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237061" target="_blank">31237061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28964643">Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rapoport DM,
|
||
Mitchell JJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Dec;122S:49-54.
|
||
Epub 2017 Aug 25
|
||
doi: 10.1016/j.ymgme.2017.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28964643" target="_blank">28964643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25027666">Clinically isolated syndromes and the relationship to multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brownlee WJ,
|
||
Miller DH</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2014 Dec;21(12):2065-71.
|
||
Epub 2014 Jul 11
|
||
doi: 10.1016/j.jocn.2014.02.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25027666" target="_blank">25027666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4329269">Neuro-ophthalmology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson HS</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1971 Oct;86(4):462-82.
|
||
doi: 10.1001/archopht.1971.01000010464021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4329269" target="_blank">4329269</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20brainstem%20morphology%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 (971)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534089">Diagnostic Approach to Cerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
|
||
Addour-Boudrahem N,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Aug;20(4):631-658.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s12311-020-01224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534089" target="_blank">33534089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168220">Dandy-Walker Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Monteagudo A</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2020 Dec;223(6):B38-B41.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ajog.2020.08.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168220" target="_blank">33168220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237061">Subacute sclerosing panencephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK,
|
||
Mahadevan A,
|
||
Malhotra HS,
|
||
Rizvi I,
|
||
Kumar N,
|
||
Uniyal R</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2019 Sep;29(5):e2058.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1002/rmv.2058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237061" target="_blank">31237061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21956758">Rhombencephalitis / brainstem encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jubelt B,
|
||
Mihai C,
|
||
Li TM,
|
||
Veerapaneni P</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2011 Dec;11(6):543-52.
|
||
doi: 10.1007/s11910-011-0228-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21956758" target="_blank">21956758</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9588537">Microlissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sztriha L,
|
||
Al-Gazali L,
|
||
Várady E,
|
||
Nork M,
|
||
Varughese M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1998 Apr;18(4):362-5.
|
||
doi: 10.1016/s0887-8994(97)00213-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9588537" target="_blank">9588537</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20brainstem%20morphology%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 (2024)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28552152">Brainstem and cerebellar cavernous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atwal GS,
|
||
Sarris CE,
|
||
Spetzler RF</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2017;143:291-295.
|
||
doi: 10.1016/B978-0-444-63640-9.00028-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28552152" target="_blank">28552152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
|
||
Basson MA</span><br />
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||
<span class="medgenPMjournal">J Anat</span>
|
||
2017 Jan;230(1):4-15.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1111/joa.12542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26092869">Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
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Knutzen DM,
|
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Rue TC,
|
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Ishak GE,
|
||
Isabella CR,
|
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Gorden N,
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||
Adkins J,
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Boyle EA,
|
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de Lacy N,
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O'Day D,
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Alswaid A,
|
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Ramadevi A R,
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||
Lingappa L,
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Lourenço C,
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Martorell L,
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Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
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Parisi MA,
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||
Glass IA,
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Shendure J,
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Doherty D</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25027666">Clinically isolated syndromes and the relationship to multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brownlee WJ,
|
||
Miller DH</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2014 Dec;21(12):2065-71.
|
||
Epub 2014 Jul 11
|
||
doi: 10.1016/j.jocn.2014.02.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25027666" target="_blank">25027666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21769069">Penetrating artery territory pontine infarction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Field TS,
|
||
Benavente OR</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol Dis</span>
|
||
2011;8(1-2):30-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21769069" target="_blank">21769069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20brainstem%20morphology%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 (2648)</a></div></div>
|
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|
||
|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34657271">The Contribution of Neuroimaging to the Understanding of Essential Tremor Pathophysiology: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pietracupa S,
|
||
Bologna M,
|
||
Tommasin S,
|
||
Berardelli A,
|
||
Pantano P</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2022 Dec;21(6):1029-1051.
|
||
Epub 2021 Oct 16
|
||
doi: 10.1007/s12311-021-01335-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34657271" target="_blank">34657271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27173364">MR Imaging in Spinocerebellar Ataxias: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klaes A,
|
||
Reckziegel E,
|
||
Franca MC Jr,
|
||
Rezende TJ,
|
||
Vedolin LM,
|
||
Jardim LB,
|
||
Saute JA</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2016 Aug;37(8):1405-12.
|
||
Epub 2016 May 12
|
||
doi: 10.3174/ajnr.A4760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27173364" target="_blank">27173364</a><a href="/pmc/articles/PMC7960281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25339235">Update on neuroimaging phenotypes of mid-hindbrain malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jissendi-Tchofo P,
|
||
Severino M,
|
||
Nguema-Edzang B,
|
||
Toure C,
|
||
Soto Ares G,
|
||
Barkovich AJ</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
2015 Feb;57(2):113-38.
|
||
Epub 2014 Oct 23
|
||
doi: 10.1007/s00234-014-1431-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25339235" target="_blank">25339235</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19517204">A rare variant of persistent trigeminal artery: cavernous carotid-cerebellar artery anastomosis--a case report and a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raphaeli G,
|
||
Bandeira A,
|
||
Mine B,
|
||
Brisbois D,
|
||
Lubicz B</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2009 Dec;8(4):445-7.
|
||
Epub 2009 Jun 11
|
||
doi: 10.1007/s12311-009-0120-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19517204" target="_blank">19517204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19404127">Brainstem cavernous malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross BA,
|
||
Batjer HH,
|
||
Awad IA,
|
||
Bendok BR</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2009 May;64(5):E805-18; discussion E818.
|
||
doi: 10.1227/01.NEU.0000343668.44288.18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19404127" target="_blank">19404127</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20brainstem%20morphology%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (43)</a></div></div>
|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20brainstem%20morphology)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20brainstem%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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