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<meta name="keywords" content="C1184919, accentuated thoracic kyphosis, anatomical abnormality, exaggerated thoracic kyphosis, finding, thoracic kyphosis, 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="Over curvature of the thoracic region, leading to a round back or if sever to a hump." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=263148
|
||
ConceptID=C1184919
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thoracic kyphosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>263148</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.">C1184919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis</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:0002942">HP:0002942</a></td></tr>
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||
<div class="portlet_content ln">Over curvature of the thoracic region, leading to a round back or if sever to a hump. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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">Thoracic kyphosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892426" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral column">Abnormality of the vertebral column</a></span><ul><li><span class="TLline"><a href="/medgen/867603" ref="tree=MeSH" title="MedGen record for Abnormal thoracic spine morphology">Abnormal thoracic spine morphology</a></span><ul><li><span class="matched_ds">Thoracic kyphosis</span><ul><li><span class="TLline"><a href="/medgen/355201" ref="tree=MeSH" title="MedGen record for Lower thoracic kyphosis">Lower thoracic kyphosis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<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_11443"><div><strong>Sjögren-Larsson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11443</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.">C0037231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11443">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66317"><div><strong>KBG syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66317</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.">C0220687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66317">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75551"><div><strong>Marshall-Smith syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75551</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.">C0265211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120527"><div><strong>Dyggve-Melchior-Clausen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120527</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.">C0265286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120527">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98048"><div><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98048</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.">C0410190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98048">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_164078"><div><strong>Schimke immuno-osseous dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164078</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:">C0877024</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266247"><div><strong>Sponastrime dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266247</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.">C1300260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266247">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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373126"><div><strong>Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373126</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.">C1836584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373126">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324580"><div><strong>Spondyloepiphyseal dysplasia with metatarsal shortening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324580</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.">C1836683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_327082"><div><strong>King Denborough syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327082</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.">C1840365</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by Dowling et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/327082">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337375"><div><strong>Syndromic X-linked intellectual disability Siderius type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337375</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.">C1846055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate (summary by Koivisto et al., 2007).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/337375">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335350"><div><strong>Spondyloepimetaphyseal dysplasia, Bieganski type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335350</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.">C1846148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335350">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382543"><div><strong>Kahrizi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382543</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.">C2675185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382543">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412914"><div><strong>Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412914</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.">C2750234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and intellectual disability (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412914">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934678"><div><strong>Myofibrillar myopathy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934678</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.">C4310711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638106"><div><strong>Anauxetic dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638106</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.">C4551965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638106">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1674537"><div><strong>Oculocerebrodental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674537</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.">C5193101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1674537">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1764121"><div><strong>Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1764121</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.">C5436788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NARS1-related neurologic disorders encompass NARS1-related neurodevelopmental disorder (NARS1-NDD), a neonatal- or childhood-onset phenotype with central nervous system and peripheral nervous system involvement, and NARS1-related hereditary neuropathy, an adolescent- or early adult-onset hereditary neuropathy. NARS1-NDD manifests with global developmental delay, intellectual disability, microcephaly, ataxia, seizures, and, rarely, neurobehavioral/psychiatric manifestations. Change in muscle tone can manifest either as spasticity or as hypotonia. Peripheral neuropathy with atrophy predominantly of the distal lower limbs can be associated. NARS1-related hereditary neuropathy manifests with mostly motor and sensory impairment involving weakness of predominantly the distal lower limbs and foot deformities, without prominent muscle atrophy. A few individuals have been described with isolated hereditary motor neuropathy associated with foot deformities, ankle contractures, kyphosis, hyperlaxity, and brisk reflexes. To date, 54 individuals from 30 families with NARS1 pathogenic variant(s) have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1764121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794162"><div><strong>Usmani-Riazuddin syndrome, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794162</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.">C5561952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Usmani-Riazzudin syndrome (USRISD) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures and distal limb anomalies (summary by Usmani et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794162">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794240"><div><strong>Spondylometaphyseal dysplasia, pagnamenta type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794240</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.">C5562030</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylometaphyseal dysplasia Pagnamenta type (SMDP) is characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present (Pagnamenta et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794240">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840932"><div><strong>Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840932</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.">C5830296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with seizures, spasticity, and partial or complete agenesis of the corpus callosum (NEDSSCC) is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals often have feeding difficulties and develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging (Faqeih et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840932">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847896"><div><strong>Arthrogryposis, distal, type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847896</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.">C5882704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 12 (DA12) is characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include contractures of the knees and Achilles tendons, spinal stiffness, scoliosis, and orthodontic abnormalities. Radiographic investigations excluded bony abnormalities of the affected joints (Boschann et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847896">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anauxetic dysplasia 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 12</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2</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_120527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyggve-Melchior-Clausen syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', 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_98048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kahrizi syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">KBG syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">King Denborough syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marshall-Smith syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1764121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocerebrodental syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schimke immuno-osseous dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sjögren-Larsson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sponastrime dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Bieganski type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with metatarsal shortening</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, pagnamenta type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Siderius type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Usmani-Riazuddin syndrome, autosomal dominant</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37597042">Conservative treatment for dropped head syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto H,
|
||
Ikeda T,
|
||
Akagi M</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2023 Oct;32(10):3505-3510.
|
||
Epub 2023 Aug 19
|
||
doi: 10.1007/s00586-023-07890-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37597042" target="_blank">37597042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28266956">Iatrogenic Flatback and Flatback Syndrome: Evaluation, Management, and Prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boody BS,
|
||
Rosenthal BD,
|
||
Jenkins TJ,
|
||
Patel AA,
|
||
Savage JW,
|
||
Hsu WK</span><br />
|
||
<span class="medgenPMjournal">Clin Spine Surg</span>
|
||
2017 May;30(4):142-149.
|
||
doi: 10.1097/BSD.0000000000000522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28266956" target="_blank">28266956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15116637">Nonsurgical treatment of kyphosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pizzutillo PD</span><br />
|
||
<span class="medgenPMjournal">Instr Course Lect</span>
|
||
2004;53:485-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15116637" target="_blank">15116637</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22thoracic%20kyphosis%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 (41)</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/34151819">Effects of scapular stabilization exercises on posture and muscle imbalances in women with upper crossed syndrome: A randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitayarak H,
|
||
Charntaraviroj P</span><br />
|
||
<span class="medgenPMjournal">J Back Musculoskelet Rehabil</span>
|
||
2021;34(6):1031-1040.
|
||
doi: 10.3233/BMR-200088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34151819" target="_blank">34151819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336051">Throwing Injuries in Youth Baseball Players: Can a Prevention Program Help? A Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakata J,
|
||
Nakamura E,
|
||
Suzuki T,
|
||
Suzukawa M,
|
||
Akeda M,
|
||
Yamazaki T,
|
||
Ellenbecker TS,
|
||
Hirose N</span><br />
|
||
<span class="medgenPMjournal">Am J Sports Med</span>
|
||
2019 Sep;47(11):2709-2716.
|
||
Epub 2019 Jul 23
|
||
doi: 10.1177/0363546519861378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336051" target="_blank">31336051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31034509">Effects of exercise programs on kyphosis and lordosis angle: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Gálvez N,
|
||
Gea-García GM,
|
||
Marcos-Pardo PJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2019;14(4):e0216180.
|
||
Epub 2019 Apr 29
|
||
doi: 10.1371/journal.pone.0216180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31034509" target="_blank">31034509</a><a href="/pmc/articles/PMC6488071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27336711">Does adolescent obesity affect surgical presentation and radiographic outcome for patients with adolescent idiopathic scoliosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bjerke BT,
|
||
Saiyed R,
|
||
Cheung ZB,
|
||
Uppstrom TJ,
|
||
Shifflett GD,
|
||
Cunningham ME</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2017 Jan;26(1):53-58.
|
||
doi: 10.1097/BPB.0000000000000351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27336711" target="_blank">27336711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4013705">Spinal deformities in tall girls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skogland LB,
|
||
Steen H,
|
||
Trygstad O</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Scand</span>
|
||
1985 Apr;56(2):155-7.
|
||
doi: 10.3109/17453678508994344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4013705" target="_blank">4013705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thoracic%20kyphosis%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 (1625)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38778324">Estimating thoracic kyphosis without information on upper thoracic kyphosis: an observational study on 455 patients examined by EOS imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghandhari H,
|
||
Javanbakht M,
|
||
Nikouei F,
|
||
Shakeri M,
|
||
Cegolon L,
|
||
Motalebi M</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2024 May 22;25(1):403.
|
||
doi: 10.1186/s12891-024-07490-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38778324" target="_blank">38778324</a><a href="/pmc/articles/PMC11110435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34653079">Schroth exercises improve health-related quality of life and radiographic parameters in adolescent idiopathic scoliosis patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao A,
|
||
Li JY,
|
||
Shao R,
|
||
Wu TX,
|
||
Wang YQ,
|
||
Liu XG,
|
||
Yu M</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2021 Oct 13;134(21):2589-2596.
|
||
doi: 10.1097/CM9.0000000000001799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34653079" target="_blank">34653079</a><a href="/pmc/articles/PMC8577664" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24246907">Reliability and validity of non-radiographic methods of thoracic kyphosis measurement: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrett E,
|
||
McCreesh K,
|
||
Lewis J</span><br />
|
||
<span class="medgenPMjournal">Man Ther</span>
|
||
2014 Feb;19(1):10-7.
|
||
Epub 2013 Oct 26
|
||
doi: 10.1016/j.math.2013.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24246907" target="_blank">24246907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21811824">Pediatric sagittal alignment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mac-Thiong JM,
|
||
Labelle H,
|
||
Roussouly P</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2011 Sep;20 Suppl 5(Suppl 5):586-90.
|
||
Epub 2011 Aug 3
|
||
doi: 10.1007/s00586-011-1925-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21811824" target="_blank">21811824</a><a href="/pmc/articles/PMC3175924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4013705">Spinal deformities in tall girls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skogland LB,
|
||
Steen H,
|
||
Trygstad O</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Scand</span>
|
||
1985 Apr;56(2):155-7.
|
||
doi: 10.3109/17453678508994344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4013705" target="_blank">4013705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thoracic%20kyphosis%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 (378)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34151819">Effects of scapular stabilization exercises on posture and muscle imbalances in women with upper crossed syndrome: A randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitayarak H,
|
||
Charntaraviroj P</span><br />
|
||
<span class="medgenPMjournal">J Back Musculoskelet Rehabil</span>
|
||
2021;34(6):1031-1040.
|
||
doi: 10.3233/BMR-200088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34151819" target="_blank">34151819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336051">Throwing Injuries in Youth Baseball Players: Can a Prevention Program Help? A Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakata J,
|
||
Nakamura E,
|
||
Suzuki T,
|
||
Suzukawa M,
|
||
Akeda M,
|
||
Yamazaki T,
|
||
Ellenbecker TS,
|
||
Hirose N</span><br />
|
||
<span class="medgenPMjournal">Am J Sports Med</span>
|
||
2019 Sep;47(11):2709-2716.
|
||
Epub 2019 Jul 23
|
||
doi: 10.1177/0363546519861378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336051" target="_blank">31336051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31034509">Effects of exercise programs on kyphosis and lordosis angle: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Gálvez N,
|
||
Gea-García GM,
|
||
Marcos-Pardo PJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2019;14(4):e0216180.
|
||
Epub 2019 Apr 29
|
||
doi: 10.1371/journal.pone.0216180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31034509" target="_blank">31034509</a><a href="/pmc/articles/PMC6488071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26583083">Effects of Exercise on Spinal Deformities and Quality of Life in Patients with Adolescent Idiopathic Scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anwer S,
|
||
Alghadir A,
|
||
Abu Shaphe M,
|
||
Anwar D</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2015;2015:123848.
|
||
Epub 2015 Oct 25
|
||
doi: 10.1155/2015/123848.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26583083" target="_blank">26583083</a><a href="/pmc/articles/PMC4637024" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23948845">The efficiency of corrective exercise interventions on thoracic hyper-kyphosis angle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seidi F,
|
||
Rajabi R,
|
||
Ebrahimi I,
|
||
Alizadeh MH,
|
||
Minoonejad H</span><br />
|
||
<span class="medgenPMjournal">J Back Musculoskelet Rehabil</span>
|
||
2014;27(1):7-16.
|
||
doi: 10.3233/BMR-130411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23948845" target="_blank">23948845</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thoracic%20kyphosis%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 (426)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336051">Throwing Injuries in Youth Baseball Players: Can a Prevention Program Help? A Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakata J,
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<span class="bold">PMID: </span><a href="/pubmed/31336051" target="_blank">31336051</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bjerke BT,
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<div class="nl"><a target="_blank" href="/pubmed/438235">Surgical management of thoracic kyphosis in adolescents.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taylor TC,
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Stephen J,
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<div class="nl"><a target="_blank" href="/pubmed/38778324">Estimating thoracic kyphosis without information on upper thoracic kyphosis: an observational study on 455 patients examined by EOS imaging.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghandhari H,
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Javanbakht M,
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Nikouei F,
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Shakeri M,
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Cegolon L,
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Motalebi M</span><br />
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<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
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2024 May 22;25(1):403.
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doi: 10.1186/s12891-024-07490-2.
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<span class="bold">PMID: </span><a href="/pubmed/38778324" target="_blank">38778324</a><a href="/pmc/articles/PMC11110435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36057126">Surgical treatment of young adults with idiopathic scoliosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Walker CT,
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Agarwal N,
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Eastlack RK,
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Mundis GM,
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Alan N,
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Iannacone T,
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Okonkwo DO</span><br />
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<span class="medgenPMjournal">J Neurosurg Spine</span>
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2023 Jan 1;38(1):84-90.
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Epub 2022 Sep 2
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doi: 10.3171/2022.7.SPINE2298.
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<span class="bold">PMID: </span><a href="/pubmed/36057126" target="_blank">36057126</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31034509">Effects of exercise programs on kyphosis and lordosis angle: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">González-Gálvez N,
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Gea-García GM,
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Marcos-Pardo PJ</span><br />
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2019;14(4):e0216180.
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Epub 2019 Apr 29
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doi: 10.1371/journal.pone.0216180.
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<span class="bold">PMID: </span><a href="/pubmed/31034509" target="_blank">31034509</a><a href="/pmc/articles/PMC6488071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28777760">The impact of saddle chairs on spinal curvatures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Truszczyńska-Baszak A,
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<span class="bold">PMID: </span><a href="/pubmed/28777760" target="_blank">28777760</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/8309754">Spinal deformities in deferoxamine-treated homozygous beta-thalassemia major patients.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartkamp MJ,
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Babyn PS,
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<span class="medgenPMjournal">Pediatr Radiol</span>
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1993;23(7):525-8.
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doi: 10.1007/BF02012139.
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<span class="bold">PMID: </span><a href="/pubmed/8309754" target="_blank">8309754</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thoracic%20kyphosis%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 (982)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/38719166">Effectiveness of Physiotherapeutic Scoliosis-Specific Exercises on 3-Dimensional Spinal Deformities in Patients With Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">You MJ,
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||
Lu ZY,
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||
Xu QY,
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||
Chen PB,
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||
Li B,
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||
Jiang SD,
|
||
Jiang LS,
|
||
Xia J,
|
||
Zheng XF</span><br />
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||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
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||
2024 Dec;105(12):2375-2389.
|
||
Epub 2024 May 6
|
||
doi: 10.1016/j.apmr.2024.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38719166" target="_blank">38719166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38302926">The effect of various therapeutic exercises on forward head posture, rounded shoulder, and hyperkyphosis among people with upper crossed syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sepehri S,
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||
Sheikhhoseini R,
|
||
Piri H,
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||
Sayyadi P</span><br />
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<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2024 Feb 1;25(1):105.
|
||
doi: 10.1186/s12891-024-07224-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38302926" target="_blank">38302926</a><a href="/pmc/articles/PMC10832142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31034509">Effects of exercise programs on kyphosis and lordosis angle: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Gálvez N,
|
||
Gea-García GM,
|
||
Marcos-Pardo PJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2019;14(4):e0216180.
|
||
Epub 2019 Apr 29
|
||
doi: 10.1371/journal.pone.0216180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31034509" target="_blank">31034509</a><a href="/pmc/articles/PMC6488071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26583083">Effects of Exercise on Spinal Deformities and Quality of Life in Patients with Adolescent Idiopathic Scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anwer S,
|
||
Alghadir A,
|
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Abu Shaphe M,
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Anwar D</span><br />
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<span class="medgenPMjournal">Biomed Res Int</span>
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2015;2015:123848.
|
||
Epub 2015 Oct 25
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||
doi: 10.1155/2015/123848.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26583083" target="_blank">26583083</a><a href="/pmc/articles/PMC4637024" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24246907">Reliability and validity of non-radiographic methods of thoracic kyphosis measurement: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrett E,
|
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McCreesh K,
|
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Lewis J</span><br />
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<span class="medgenPMjournal">Man Ther</span>
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2014 Feb;19(1):10-7.
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Epub 2013 Oct 26
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doi: 10.1016/j.math.2013.09.003.
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<span class="bold">PMID: </span><a href="/pubmed/24246907" target="_blank">24246907</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thoracic%20kyphosis%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 (47)</a></div></div>
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</div>
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<div class="row">
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<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
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</li>
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</ul>
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||
</nav>
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</div>
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</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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