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<meta name="keywords" content="C4022154, anatomical abnormality, cerebellar hemisphere hypoplasia, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebellar hemisphere hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867764</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:">C4022154</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0100307">HP:0100307</a></td></tr>
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<div class="divPopper rprt" id="rdis_382856"><div><strong>Pontocerebellar hypoplasia type 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382856</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.">C2676465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382856">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767413"><div><strong>Microcephalic primordial dwarfism due to ZNF335 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767413</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.">C3554499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767413">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767571"><div><strong>Cobblestone lissencephaly without muscular or ocular involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767571</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.">C3554657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). 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/767571">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815372"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815372</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.">C3809042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815372">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681109"><div><strong>Lissencephaly 9 with complex brainstem malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681109</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.">C5193029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681109">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809583"><div><strong>Pontocerebellar hypoplasia, IIA 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809583</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.">C5676999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 17 (PCH17) is a severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Brain imaging shows cerebellar and brainstem hypoplasia. Most affected individuals die in infancy. Those who survive show variable developmental delay. Other features of the disorder include distal hypertonia, poor overall growth, visual defects, autonomic problems, dysmorphic features, and seizures (Coolen et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809583">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cobblestone lissencephaly without muscular or ocular involvement</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly 9 with complex brainstem malformation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephalic primordial dwarfism due to ZNF335 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 2C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, IIA 17</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33942916">Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krajden Haratz K,
|
||
Oliveira Szejnfeld P,
|
||
Govindaswamy M,
|
||
Leibovitz Z,
|
||
Gindes L,
|
||
Severino M,
|
||
Rossi A,
|
||
Paladini D,
|
||
Garcia Rodriguez R,
|
||
Ben-Sira L,
|
||
Borkowski Tillman T,
|
||
Gupta R,
|
||
Lotem G,
|
||
Raz N,
|
||
Hamamoto TENK,
|
||
Kidron D,
|
||
Arad A,
|
||
Birnbaum R,
|
||
Brussilov M,
|
||
Pomar L,
|
||
Vial Y,
|
||
Leventer RJ,
|
||
McGillivray G,
|
||
Fink M,
|
||
Krzeszowski W,
|
||
Fernandes Moron A,
|
||
Lev D,
|
||
Tamarkin M,
|
||
Shalev J,
|
||
Har Toov J,
|
||
Lerman-Sagie T,
|
||
Malinger G</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2021 Dec;58(6):864-874.
|
||
doi: 10.1002/uog.23660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33942916" target="_blank">33942916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24839100">Cerebellar hypoplasia: differential diagnosis and diagnostic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poretti A,
|
||
Boltshauser E,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):211-26.
|
||
Epub 2014 May 16
|
||
doi: 10.1002/ajmg.c.31398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24839100" target="_blank">24839100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19194867">The fetal cerebellum. Pitfalls in diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malinger G,
|
||
Lev D,
|
||
Lerman-Sagie T</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2009 Apr;29(4):372-80.
|
||
doi: 10.1002/pd.2196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19194867" target="_blank">19194867</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cerebellar%20hemisphere%20hypoplasia)%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 (18)</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/36971923">Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zakaria RBM,
|
||
Malta M,
|
||
Pelletier F,
|
||
Addour-Boudrahem N,
|
||
Pinchefsky E,
|
||
Martin CS,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Apr;23(2):418-430.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1007/s12311-023-01544-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971923" target="_blank">36971923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17476704">Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tilea B,
|
||
Delezoide AL,
|
||
Khung-Savatovski S,
|
||
Guimiot F,
|
||
Vuillard E,
|
||
Oury JF,
|
||
Garel C</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2007 Jun;29(6):651-9.
|
||
doi: 10.1002/uog.4012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17476704" target="_blank">17476704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20hemisphere%20hypoplasia%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 (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32723018">Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sepulveda W,
|
||
Sepulveda F</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Jul;35(14):2751-2758.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1080/14767058.2020.1799349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32723018" target="_blank">32723018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17476704">Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tilea B,
|
||
Delezoide AL,
|
||
Khung-Savatovski S,
|
||
Guimiot F,
|
||
Vuillard E,
|
||
Oury JF,
|
||
Garel C</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2007 Jun;29(6):651-9.
|
||
doi: 10.1002/uog.4012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17476704" target="_blank">17476704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17213418">Intracranial infantile hemangiomas associated with PHACE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Judd CD,
|
||
Chapman PR,
|
||
Koch B,
|
||
Shea CJ</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2007 Jan;28(1):25-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17213418" target="_blank">17213418</a><a href="/pmc/articles/PMC8134116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15287060">Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinelli P,
|
||
Maruotti GM,
|
||
Agangi A,
|
||
Mazzarelli LL,
|
||
Bifulco G,
|
||
Paladini D</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2004 Aug;24(2):199-201.
|
||
doi: 10.1002/uog.1118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15287060" target="_blank">15287060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9365367">Genetic disorders and cerebellar structural abnormalities in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaekers VT,
|
||
Heimann G,
|
||
Reul J,
|
||
Thron A,
|
||
Jaeken J</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1997 Oct;120 ( Pt 10):1739-51.
|
||
doi: 10.1093/brain/120.10.1739.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9365367" target="_blank">9365367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20hemisphere%20hypoplasia%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17213418">Intracranial infantile hemangiomas associated with PHACE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Judd CD,
|
||
Chapman PR,
|
||
Koch B,
|
||
Shea CJ</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2007 Jan;28(1):25-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17213418" target="_blank">17213418</a><a href="/pmc/articles/PMC8134116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20hemisphere%20hypoplasia%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32723018">Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sepulveda W,
|
||
Sepulveda F</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Jul;35(14):2751-2758.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1080/14767058.2020.1799349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32723018" target="_blank">32723018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17476704">Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tilea B,
|
||
Delezoide AL,
|
||
Khung-Savatovski S,
|
||
Guimiot F,
|
||
Vuillard E,
|
||
Oury JF,
|
||
Garel C</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2007 Jun;29(6):651-9.
|
||
doi: 10.1002/uog.4012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17476704" target="_blank">17476704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17213418">Intracranial infantile hemangiomas associated with PHACE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Judd CD,
|
||
Chapman PR,
|
||
Koch B,
|
||
Shea CJ</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2007 Jan;28(1):25-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17213418" target="_blank">17213418</a><a href="/pmc/articles/PMC8134116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20hemisphere%20hypoplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36971923">Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zakaria RBM,
|
||
Malta M,
|
||
Pelletier F,
|
||
Addour-Boudrahem N,
|
||
Pinchefsky E,
|
||
Martin CS,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Apr;23(2):418-430.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1007/s12311-023-01544-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971923" target="_blank">36971923</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebellar%20hemisphere%20hypoplasia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Cerebellar%20hemisphere%20hypoplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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