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<meta name="keywords" content="C1836003, bilateral facial paresis, bilateral facial weakness, facial diplegia, facial paresis, bilateral, 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="Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=322796
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ConceptID=C1836003
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Facial diplegia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322796</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.">C1836003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Bilateral facial paresis</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001349">HP:0001349</a></td></tr>
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<div class="portlet_content ln">Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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=C1836003[DISCUI]&test_type=Clinical" ref="ncbi_uid=322796">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Facial diplegia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/1160" ref="tree=MeSH" title="MedGen record for Cranial nerve neuropathy">Cranial nerve neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/41946" ref="tree=MeSH" title="MedGen record for Facial nerve disorder">Facial nerve disorder</a></span><ul><li><span class="TLline"><a href="/medgen/87660" ref="tree=MeSH" title="MedGen record for Facial palsy">Facial palsy</a></span><ul><li><span class="matched_ds">Facial diplegia</span><ul><li><span class="TLline"><a href="/medgen/163430" ref="tree=MeSH" title="MedGen record for Congenital facial diplegia">Congenital facial diplegia</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 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">
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||
<div class="divPopper rprt" id="rdis_41975"><div><strong>Progressive bulbar palsy of childhood</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41975</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.">C0015708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_52644"><div><strong>Tangier disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52644</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.">C0039292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy, which may be either relapsing-remitting or chronic progressive in nature. Rarer complications may include corneal opacities that typically do not affect vision, premature atherosclerotic coronary artery disease occurring in the sixth and seventh decades of life (not usually before age 40 years), and mild hematologic manifestations, such as mild thrombocytopenia, reticulocytosis, stomatocytosis, or hemolytic anemia. The clinical expression of Tangier disease is variable, with some affected individuals only showing biochemical perturbations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52644">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66357"><div><strong>Oromandibular-limb hypogenesis spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66357</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.">C0221060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66357">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162893"><div><strong>Agenesis of the corpus callosum with peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162893</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.">C0795950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324513"><div><strong>Congenital myopathy 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324513</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.">C1836447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.\n\nNemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324513">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382678"><div><strong>Craniodiaphyseal dysplasia, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382678</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.">C2675746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382678">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_413170"><div><strong>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413170</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.">C2749864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (SUCLA2-related mtDNA depletion syndrome) is characterized by onset of the following features in infancy: developmental delay, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, growth failure, and feeding difficulties. Other less frequent features include choreoathetosis, muscle weakness, recurrent vomiting, ptosis, and kyphoscoliosis. The median survival is age 20 years; approximately 30% of affected individuals succumb during childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/413170">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_461100"><div><strong>Mitochondrial DNA depletion syndrome, myopathic form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461100</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.">C3149750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individuals with a molecularly confirmed diagnosis have been reported. Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cognitive function is typically spared. Juvenile/childhood onset with generalized proximal weakness and survival to at least 13 years. Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions. Some affected individuals develop respiratory insufficiency, chronic progressive external ophthalmoplegia, dysphagia, and dysarthria.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/461100">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462151"><div><strong>Combined oxidative phosphorylation defect type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462151</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.">C3150801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/462151">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_886881"><div><strong>Steinert myotonic dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>886881</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.">C3250443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/886881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_896058"><div><strong>Lethal congenital contracture syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896058</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.">C4225385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lethal congenital contracture syndrome-8 (LCCS8), an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/896058">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_894160"><div><strong>Lethal congenital contracture syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894160</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.">C4225386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/894160">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_934595"><div><strong>Optic atrophy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934595</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.">C4310628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Optic atrophy-11 (OPA11) is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934595">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648446"><div><strong>Neuropathy, congenital hypomyelinating, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648446</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.">C4722277</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996). CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008). For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648417"><div><strong>Neuropathy, congenital hypomyelinating, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648417</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.">C4748608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk. Sural nerve biopsy shows hypomyelination of the nerve fibers, and brain imaging often shows impaired myelination and cerebral and cerebellar atrophy. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination (summary by Vallat et al., 2016 and Low et al., 2018). For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677784"><div><strong>Lethal arthrogryposis-anterior horn cell disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677784</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.">C5193016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). Distinction from Lethal Congenital Contracture Syndrome 1 Biallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. Smith et al. (2017) suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, Said et al. (2017) concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements. Vuopala et al. (1995) differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1677784">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1750805"><div><strong>Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750805</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.">C5436848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by Garcia-Cazorla et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1750805">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1840525"><div><strong>Congenital myopathy 4B, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840525</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.">C5829889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital myopathy-4B (CMYO4B) is an autosomal recessive disorder of the skeletal muscle characterized by the onset of muscle weakness in infancy or early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show congenital contractures, delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Affected individuals have respiratory insufficiency due to muscle weakness, which may be life-threatening. Other common features include myopathic facies, chest deformities, distal joint laxity, and scoliosis. Variable histologic findings on skeletal muscle biopsy are observed, including nemaline rods, type 1 fiber predomination, and centralized nuclei (Tan et al., 1999; Lehtokari et al., 2008). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1840525">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of the corpus callosum with peripheral neuropathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 23</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 4B, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniodiaphyseal dysplasia, autosomal dominant</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal arthrogryposis-anterior horn cell disease syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, myopathic form</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, congenital hypomyelinating, 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, congenital hypomyelinating, 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy 11</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oromandibular-limb hypogenesis spectrum</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive bulbar palsy of childhood</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_886881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steinert myotonic dystrophy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tangier disease</a></div></span></div></div>
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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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38433515">Before attributing facial diplegia to neuroborreliosis, a plethora of differential diagnoses must be ruled out.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Croat Med J</span>
|
||
2024 Feb 29;65(1):68-69.
|
||
doi: 10.3325/cmj.2024.65.68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38433515" target="_blank">38433515</a><a href="/pmc/articles/PMC10915772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19202218">Clinical variants of Guillain-Barre syndrome: some aspects of differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dididze MN</span><br />
|
||
<span class="medgenPMjournal">Georgian Med News</span>
|
||
2009 Jan;(166):48-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19202218" target="_blank">19202218</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22facial%20diplegia%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 (2)</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/32365380">Bilateral facial palsy in an older person.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Méreaux JL,
|
||
Hébant B,
|
||
Magne N,
|
||
Quesney G,
|
||
Lefaucheur R</span><br />
|
||
<span class="medgenPMjournal">Age Ageing</span>
|
||
2020 Aug 24;49(5):887-888.
|
||
doi: 10.1093/ageing/afaa082.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32365380" target="_blank">32365380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29594985">Zika virus outbreak in New Caledonia and Guillain-Barré syndrome: a case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simon O,
|
||
Acket B,
|
||
Forfait C,
|
||
Girault D,
|
||
Gourinat AC,
|
||
Millon P,
|
||
Daures M,
|
||
Vanhomwegen J,
|
||
Billot S,
|
||
Biron A,
|
||
Hoinard D,
|
||
Descloux E,
|
||
Guyon D,
|
||
Manuguerra JC,
|
||
Laumond S,
|
||
Molko N,
|
||
Dupont-Rouzeyrol M</span><br />
|
||
<span class="medgenPMjournal">J Neurovirol</span>
|
||
2018 Jun;24(3):362-368.
|
||
Epub 2018 Mar 28
|
||
doi: 10.1007/s13365-018-0621-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29594985" target="_blank">29594985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26677119">Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varol S,
|
||
Ozdemir HH,
|
||
Akil E,
|
||
Arslan D,
|
||
Aluclu MU,
|
||
Demir CF,
|
||
Yucel Y</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2015 Dec;73(12):998-1001.
|
||
doi: 10.1590/0004-282X20150174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26677119" target="_blank">26677119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15626545">Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buldini B,
|
||
Drigo P,
|
||
Via LD,
|
||
Calderone M,
|
||
Laverda AM</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2005 Jan;27(1):66-9.
|
||
doi: 10.1016/j.braindev.2004.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15626545" target="_blank">15626545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1882679">Locomotor problems in infantile facioscapulohumeral muscular dystrophy. Retrospective study of 9 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro F,
|
||
Specht L,
|
||
Korf BR</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Scand</span>
|
||
1991 Aug;62(4):367-71.
|
||
doi: 10.3109/17453679108994472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1882679" target="_blank">1882679</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facial%20diplegia%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 (40)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37429225">Neonatal Botulism: A Case Series Suggesting Varied Presentations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horvat DE,
|
||
Eye PG,
|
||
Whitehead MT,
|
||
Bharucha-Goebel D,
|
||
Roth E,
|
||
Anwar T,
|
||
Tsuchida T,
|
||
Kousa YA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Sep;146:40-43.
|
||
Epub 2023 Jun 14
|
||
doi: 10.1016/j.pediatrneurol.2023.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37429225" target="_blank">37429225</a><a href="/pmc/articles/PMC10527512" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31743260">Guillain-Barré Syndrome Variant With Facial Diplegia and Paresthesias Presenting With Bulbar Weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trikamji B,
|
||
Adler M</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2019 Dec;21(2):122-123.
|
||
doi: 10.1097/CND.0000000000000263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31743260" target="_blank">31743260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26315943">Isolated facial diplegia in Guillain-Barré syndrome: Bifacial weakness with paresthesias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakerley BR,
|
||
Yuki N</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Dec;52(6):927-32.
|
||
Epub 2015 Sep 12
|
||
doi: 10.1002/mus.24887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26315943" target="_blank">26315943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8198627">Idiopathic intracranial hypertension and facial diplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selky AK,
|
||
Dobyns WB,
|
||
Yee RD</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1994 Feb;44(2):357.
|
||
doi: 10.1212/wnl.44.2.357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8198627" target="_blank">8198627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/178296">Facial diplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weintraub MI</span><br />
|
||
<span class="medgenPMjournal">Arch Otolaryngol</span>
|
||
1976 May;102(5):311-2.
|
||
doi: 10.1001/archotol.1976.00780100097015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/178296" target="_blank">178296</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facial%20diplegia%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 (121)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37429225">Neonatal Botulism: A Case Series Suggesting Varied Presentations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horvat DE,
|
||
Eye PG,
|
||
Whitehead MT,
|
||
Bharucha-Goebel D,
|
||
Roth E,
|
||
Anwar T,
|
||
Tsuchida T,
|
||
Kousa YA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Sep;146:40-43.
|
||
Epub 2023 Jun 14
|
||
doi: 10.1016/j.pediatrneurol.2023.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37429225" target="_blank">37429225</a><a href="/pmc/articles/PMC10527512" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36705187">D-penicillamine Induced Myasthenia Gravis in Wilson's Disease: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thapa L,
|
||
Thapa M,
|
||
Bhattarai S,
|
||
Shrestha AM,
|
||
Sharma N,
|
||
Rai N,
|
||
Pokharel M,
|
||
Paudel R</span><br />
|
||
<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
|
||
2022 Jul 1;60(251):644-647.
|
||
doi: 10.31729/jnma.7607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36705187" target="_blank">36705187</a><a href="/pmc/articles/PMC9297353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34649856">Guillain-Barré syndrome presenting with facial diplegia following COVID-19 vaccination in two patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanabar G,
|
||
Wilkinson P</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 Oct 14;14(10)
|
||
doi: 10.1136/bcr-2021-244527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34649856" target="_blank">34649856</a><a href="/pmc/articles/PMC8522664" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28398689">Facial diplegia after pembrolizumab treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yost MD,
|
||
Chou CZ,
|
||
Botha H,
|
||
Block MS,
|
||
Liewluck T</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2017 Sep;56(3):E20-E21.
|
||
Epub 2017 May 6
|
||
doi: 10.1002/mus.25663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28398689" target="_blank">28398689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8198627">Idiopathic intracranial hypertension and facial diplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selky AK,
|
||
Dobyns WB,
|
||
Yee RD</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1994 Feb;44(2):357.
|
||
doi: 10.1212/wnl.44.2.357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8198627" target="_blank">8198627</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facial%20diplegia%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34253174">Clinical features and outcome of Guillain-Barre syndrome in Saudi Arabia: a multicenter, retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alanazy MH,
|
||
Bakry SS,
|
||
Alqahtani A,
|
||
AlAkeel NS,
|
||
Alazwary N,
|
||
Osman AM,
|
||
Mustafa RA,
|
||
Al-Harbi TM,
|
||
Abdulmana SO,
|
||
Amper AC,
|
||
Aldughaythir Y,
|
||
Ali AS,
|
||
Makkawi S,
|
||
Maglan A,
|
||
Alamoudi L,
|
||
Alsulaiman F,
|
||
Alabdali M,
|
||
AlShareef AA,
|
||
Abuzinadah AR,
|
||
Bamaga AK</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 Jul 12;21(1):275.
|
||
doi: 10.1186/s12883-021-02314-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34253174" target="_blank">34253174</a><a href="/pmc/articles/PMC8273933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19714293">Bilateral facial nerve enhancement demonstrated by magnetic resonance imaging in Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yardimci N,
|
||
Avci AY,
|
||
Kayhan E,
|
||
Benli S</span><br />
|
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<span class="medgenPMjournal">Neurol Sci</span>
|
||
2009 Oct;30(5):431-3.
|
||
doi: 10.1007/s10072-009-0120-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19714293" target="_blank">19714293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18197137">Isolated bilateral facial paralysis revealing AIDS: a unique presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abboud O,
|
||
Saliba I</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2008 Apr;118(4):580-4.
|
||
doi: 10.1097/MLG.0b013e3181625722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18197137" target="_blank">18197137</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15626545">Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buldini B,
|
||
Drigo P,
|
||
Via LD,
|
||
Calderone M,
|
||
Laverda AM</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2005 Jan;27(1):66-9.
|
||
doi: 10.1016/j.braindev.2004.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15626545" target="_blank">15626545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12847079">Bickerstaff's brainstem encephalitis: clinical features of 62 cases and a subgroup associated with Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Odaka M,
|
||
Yuki N,
|
||
Yamada M,
|
||
Koga M,
|
||
Takemi T,
|
||
Hirata K,
|
||
Kuwabara S</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2003 Oct;126(Pt 10):2279-90.
|
||
Epub 2003 Jul 7
|
||
doi: 10.1093/brain/awg233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12847079" target="_blank">12847079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facial%20diplegia%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37681361">Association of Guillain-Barré syndrome following COVID-19 vaccination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chowdhury S,
|
||
Chowdhury S</span><br />
|
||
<span class="medgenPMjournal">Int J Immunopathol Pharmacol</span>
|
||
2023 Jan-Dec;37:3946320231199349.
|
||
doi: 10.1177/03946320231199349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37681361" target="_blank">37681361</a><a href="/pmc/articles/PMC10492469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34406260">Guillain-Barré syndrome associated with SARS-CoV-2 infection: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medeiros KS,
|
||
Macêdo LTA,
|
||
Souza WF,
|
||
Sarmento AC,
|
||
Costa APF,
|
||
Gonçalves AK</span><br />
|
||
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
|
||
2021 Feb;67(2):318-334.
|
||
doi: 10.1590/1806-9282.67.2.20200716.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34406260" target="_blank">34406260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29594985">Zika virus outbreak in New Caledonia and Guillain-Barré syndrome: a case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simon O,
|
||
Acket B,
|
||
Forfait C,
|
||
Girault D,
|
||
Gourinat AC,
|
||
Millon P,
|
||
Daures M,
|
||
Vanhomwegen J,
|
||
Billot S,
|
||
Biron A,
|
||
Hoinard D,
|
||
Descloux E,
|
||
Guyon D,
|
||
Manuguerra JC,
|
||
Laumond S,
|
||
Molko N,
|
||
Dupont-Rouzeyrol M</span><br />
|
||
<span class="medgenPMjournal">J Neurovirol</span>
|
||
2018 Jun;24(3):362-368.
|
||
Epub 2018 Mar 28
|
||
doi: 10.1007/s13365-018-0621-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29594985" target="_blank">29594985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622362">Congenital and infantile myotonic dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Echenne B,
|
||
Bassez G</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1387-93.
|
||
doi: 10.1016/B978-0-444-59565-2.00009-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622362" target="_blank">23622362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15626545">Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buldini B,
|
||
Drigo P,
|
||
Via LD,
|
||
Calderone M,
|
||
Laverda AM</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2005 Jan;27(1):66-9.
|
||
doi: 10.1016/j.braindev.2004.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15626545" target="_blank">15626545</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facial%20diplegia%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 (18)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33895700">Association of Guillain-Barre syndrome with COVID-19 infection: An updated systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheikh AB,
|
||
Chourasia PK,
|
||
Javed N,
|
||
Chourasia MK,
|
||
Suriya SS,
|
||
Upadhyay S,
|
||
Ijaz F,
|
||
Pal S,
|
||
Moghimi N,
|
||
Shekhar R</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2021 Jun 15;355:577577.
|
||
Epub 2021 Apr 18
|
||
doi: 10.1016/j.jneuroim.2021.577577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33895700" target="_blank">33895700</a><a href="/pmc/articles/PMC8053360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facial%20diplegia%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>
|
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|
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1836003%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
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<li><a href="/gtr/tests?term=C1836003%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1836003%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Facial%20diplegia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22facial%20diplegia%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">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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Facial%20diplegia" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed?term=Facial%20diplegia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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