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<!--
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||
UID=349144
|
||
ConceptID=C1859341
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Olivopontocerebellar hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349144</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.">C1859341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypoplasia, Olivopontocerebellar; Olivopontocerebellar Hypoplasia; Olivopontocerebellar Hypoplasias</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:0006955">HP:0006955</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 mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. [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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859341[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=349144">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349144" ref="ncbi_uid=349144">V</a></span></span><span class="TLline">Olivopontocerebellar hypoplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/866816" ref="tree=MeSH" title="MedGen record for Abnormal hindbrain morphology">Abnormal hindbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869015" ref="tree=MeSH" title="MedGen record for Abnormal metencephalon morphology">Abnormal metencephalon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870459" ref="tree=MeSH" title="MedGen record for Abnormal pons morphology">Abnormal pons morphology</a></span><ul><li><span class="TLline"><a href="/medgen/341246" ref="tree=MeSH" title="MedGen record for Hypoplasia of the pons">Hypoplasia of the pons</a></span><ul><li><span class="matched_ds">Olivopontocerebellar hypoplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</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:">C0349653</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_234691"><div><strong>Paine syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234691</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.">C1412041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mental retardation, microcephaly, spastic diplegia, seizures, and mild aminoaciduria are the principal features. Seemanova syndrome 1 and Paine syndrome are considered as variants of the same entity termed Paine-Seemanova syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234691">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341845"><div><strong>Pontocerebellar hypoplasia type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341845</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.">C1857762</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/341845">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_234691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paine syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 5</a></div></div>
|
||
</div>
|
||
|
||
<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/8677029">Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnik-Schöneborn S,
|
||
Forkert R,
|
||
Hahnen E,
|
||
Wirth B,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Feb;27(1):8-15.
|
||
doi: 10.1055/s-2007-973741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8677029" target="_blank">8677029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22olivopontocerebellar%20hypoplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</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/12690561">Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miossec-Chauvet E,
|
||
Mikaeloff Y,
|
||
Heron D,
|
||
Merzoug V,
|
||
Cormier-Daire V,
|
||
de Lonlay P,
|
||
Matthijs G,
|
||
Van Hulle C,
|
||
Ponsot G,
|
||
Seta N</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2003 Feb;34(1):1-6.
|
||
doi: 10.1055/s-2003-38614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12690561" target="_blank">12690561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9056537">Expression of the homeobox-containing genes EN1 and EN2 in human fetal midgestational medulla and cerebellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zec N,
|
||
Rowitch DH,
|
||
Bitgood MJ,
|
||
Kinney HC</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
1997 Mar;56(3):236-42.
|
||
doi: 10.1097/00005072-199703000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9056537" target="_blank">9056537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8677029">Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnik-Schöneborn S,
|
||
Forkert R,
|
||
Hahnen E,
|
||
Wirth B,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Feb;27(1):8-15.
|
||
doi: 10.1055/s-2007-973741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8677029" target="_blank">8677029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Olivopontocerebellar%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17641900">Pontocerebellar hypoplasia type 2: a neuropathological update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barth PG,
|
||
Aronica E,
|
||
de Vries L,
|
||
Nikkels PG,
|
||
Scheper W,
|
||
Hoozemans JJ,
|
||
Poll-The BT,
|
||
Troost D</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2007 Oct;114(4):373-86.
|
||
Epub 2007 Jul 20
|
||
doi: 10.1007/s00401-007-0263-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17641900" target="_blank">17641900</a><a href="/pmc/articles/PMC2039791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12690561">Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miossec-Chauvet E,
|
||
Mikaeloff Y,
|
||
Heron D,
|
||
Merzoug V,
|
||
Cormier-Daire V,
|
||
de Lonlay P,
|
||
Matthijs G,
|
||
Van Hulle C,
|
||
Ponsot G,
|
||
Seta N</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2003 Feb;34(1):1-6.
|
||
doi: 10.1055/s-2003-38614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12690561" target="_blank">12690561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10978619">Fatal outcome in a case of pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grellner W,
|
||
Rohde K,
|
||
Wilske J</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2000 Sep 11;113(1-3):165-72.
|
||
doi: 10.1016/s0379-0738(00)00270-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10978619" target="_blank">10978619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10327146">Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitra AG,
|
||
Salvino AR,
|
||
Spence JE</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1999 Apr;19(4):375-8.
|
||
doi: 10.1002/(sici)1097-0223(199904)19:4<375::aid-pd528>3.0.co;2-j.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10327146" target="_blank">10327146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8677029">Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnik-Schöneborn S,
|
||
Forkert R,
|
||
Hahnen E,
|
||
Wirth B,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Feb;27(1):8-15.
|
||
doi: 10.1055/s-2007-973741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8677029" target="_blank">8677029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Olivopontocerebellar%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12690561">Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miossec-Chauvet E,
|
||
Mikaeloff Y,
|
||
Heron D,
|
||
Merzoug V,
|
||
Cormier-Daire V,
|
||
de Lonlay P,
|
||
Matthijs G,
|
||
Van Hulle C,
|
||
Ponsot G,
|
||
Seta N</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2003 Feb;34(1):1-6.
|
||
doi: 10.1055/s-2003-38614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12690561" target="_blank">12690561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10978619">Fatal outcome in a case of pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grellner W,
|
||
Rohde K,
|
||
Wilske J</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2000 Sep 11;113(1-3):165-72.
|
||
doi: 10.1016/s0379-0738(00)00270-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10978619" target="_blank">10978619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10327146">Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitra AG,
|
||
Salvino AR,
|
||
Spence JE</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1999 Apr;19(4):375-8.
|
||
doi: 10.1002/(sici)1097-0223(199904)19:4<375::aid-pd528>3.0.co;2-j.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10327146" target="_blank">10327146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9628193">Three siblings of fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto K,
|
||
Takeuchi Y,
|
||
Kida Y,
|
||
Hasegawa H,
|
||
Kantake M,
|
||
Sasaki A,
|
||
Asanuma K,
|
||
Isumi H,
|
||
Takashima S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1998 Apr;20(3):169-74.
|
||
doi: 10.1016/s0387-7604(98)00014-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9628193" target="_blank">9628193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8677029">Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnik-Schöneborn S,
|
||
Forkert R,
|
||
Hahnen E,
|
||
Wirth B,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Feb;27(1):8-15.
|
||
doi: 10.1055/s-2007-973741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8677029" target="_blank">8677029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Olivopontocerebellar%20hypoplasia%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10978619">Fatal outcome in a case of pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grellner W,
|
||
Rohde K,
|
||
Wilske J</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2000 Sep 11;113(1-3):165-72.
|
||
doi: 10.1016/s0379-0738(00)00270-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10978619" target="_blank">10978619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8677029">Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnik-Schöneborn S,
|
||
Forkert R,
|
||
Hahnen E,
|
||
Wirth B,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Feb;27(1):8-15.
|
||
doi: 10.1055/s-2007-973741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8677029" target="_blank">8677029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Olivopontocerebellar%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1859341%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1859341%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1859341%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Olivopontocerebellar%20hypoplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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