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<!--
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||
UID=480139
|
||
ConceptID=C3278509
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vertebral fusion</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480139</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.">C3278509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Spinal fusion; Vertebral fusions</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002948">HP:0002948</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A developmental defect leading to the union of two adjacent vertebrae. [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 mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3278509[DISCUI]&test_type=Clinical" ref="ncbi_uid=480139">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=480139" ref="ncbi_uid=480139">V</a></span></span><span class="TLline">Vertebral fusion</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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/1728335" ref="tree=MeSH" title="MedGen record for Abnormal musculoskeletal physiology">Abnormal musculoskeletal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1841757" ref="tree=MeSH" title="MedGen record for Abnormal joint physiology">Abnormal joint physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868806" ref="tree=MeSH" title="MedGen record for Abnormality of joint mobility">Abnormality of joint mobility</a></span><ul><li><span class="TLline"><a href="/medgen/568615" ref="tree=MeSH" title="MedGen record for Synostosis of joints">Synostosis of joints</a></span><ul><li><span class="matched_ds">Vertebral fusion</span><ul><li><span class="TLline"><a href="/medgen/870713" ref="tree=MeSH" title="MedGen record for Abnormal vertebral segmentation and fusion">Abnormal vertebral segmentation and fusion</a></span></li><li><span class="TLline"><a href="/medgen/409820" ref="tree=MeSH" title="MedGen record for Anterior vertebral fusion">Anterior vertebral fusion</a></span></li><li><span class="TLline"><a href="/medgen/375498" ref="tree=MeSH" title="MedGen record for Block vertebrae">Block vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/854386" ref="tree=MeSH" title="MedGen record for Fused cervical vertebrae">Fused cervical vertebrae</a></span><ul><li><span class="TLline"><a href="/medgen/868147" ref="tree=MeSH" title="MedGen record for Cervical C3/C4 vertebral fusion">Cervical C3/C4 vertebral fusion</a></span></li><li><span class="TLline"><a href="/medgen/870841" ref="tree=MeSH" title="MedGen record for Cervical C5/C6 vertebrae fusion">Cervical C5/C6 vertebrae fusion</a></span></li><li><span class="TLline"><a href="/medgen/1863950" ref="tree=MeSH" title="MedGen record for Cervical C6/C7 vertebrae fusion">Cervical C6/C7 vertebrae fusion</a></span></li><li><span class="TLline"><a href="/medgen/376116" ref="tree=MeSH" title="MedGen record for Fusion of midcervical facet joints">Fusion of midcervical facet joints</a></span></li><li><span class="TLline"><a href="/medgen/9645" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome">Klippel-Feil syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396196" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 1, autosomal dominant">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/395201" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 2, autosomal recessive">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462317" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 3, autosomal dominant">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341933" ref="tree=MeSH" title="MedGen record for Progressive cervical vertebral spine fusion">Progressive cervical vertebral spine fusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868271" ref="tree=MeSH" title="MedGen record for Fused lumbar vertebrae">Fused lumbar vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/868272" ref="tree=MeSH" title="MedGen record for Fused thoracic vertebrae">Fused thoracic vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/870715" ref="tree=MeSH" title="MedGen record for Posterior fusion of lumbosacral vertebrae">Posterior fusion of lumbosacral vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/643854" ref="tree=MeSH" title="MedGen record for Sacralization of the fifth lumbar vertebra">Sacralization of the fifth lumbar vertebra</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_1413"><div><strong>Alkaptonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1413</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:">C0002066</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1413">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_2554"><div><strong>Gorlin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</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.">C0004779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_104500"><div><strong>Larsen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104500</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.">C0175778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/104500">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>
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||
<div class="divPopper rprt" id="rdis_82707"><div><strong>Spondylocostal dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82707</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.">C0265343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82707">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208663"><div><strong>Microcephaly-cervical spine fusion anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208663</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.">C0796066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208663">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167103"><div><strong>Myhre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167103</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.">C0796081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery. Effusions of the heart, airways, lungs, uterus, and peritoneum may occur and can progress to fibrosis. Most affected individuals have characteristic facial features (short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, thin vermilion of the upper lip, narrow mouth, and prognathism) and developmental delay / cognitive disability, typically in the mild-to-moderate range. Neurobehavioral issues may include autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or anxiety. Although immunoglobulin (Ig) G and IgA deficiency are rare, affected individuals can experience recurrent infections (including otitis media, sinusitis, mastoiditis, or croup). Hearing loss can progress over time. Growth may be impaired in early life. Most adolescents develop obesity. Eye findings can include refractive errors, astigmatism, corectopia, and optic nerve anomalies. Gastrointestinal (GI) issues may include gastroesophageal reflux disease, constipation, and encopresis. Less commonly, stenosis of the GI tract, Hirschsprung disease, and/or metabolic dysfunction-associated liver disease may be observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331348"><div><strong>Multiple synostoses syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331348</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.">C1832708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331348">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374225"><div><strong>X-linked lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374225</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.">C1839440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339580"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339580</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.">C1846672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335764"><div><strong>Muscular dystrophy-dystroglycanopathy type B5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335764</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.">C1847759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341339"><div><strong>Spondylocarpotarsal synostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341339</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.">C1848934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341339">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341373"><div><strong>Spondylocostal dysostosis-anal and genitourinary malformations syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341373</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.">C1849069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342070"><div><strong>Lateral meningocele syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342070</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.">C1851710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381473"><div><strong>Lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381473</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.">C1854678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nLethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381473">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341637"><div><strong>Autosomal recessive faciodigitogenital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341637</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.">C1856871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341637">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347232"><div><strong>Anophthalmia/microphthalmia-esophageal atresia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347232</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.">C1859773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349432"><div><strong>Brachydactyly type B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349432</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.">C1862112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349432">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355853"><div><strong>Koolen-de Vries syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355853</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.">C1864871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism. Behavior in most is described as friendly, amiable, and cooperative.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355853">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_401232"><div><strong>Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401232</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.">C1867440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018). An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462292"><div><strong>Spondylocostal dysostosis 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462292</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.">C3150942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/462292">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816353"><div><strong>8q24.3 microdeletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816353</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.">C3810023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816353">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901825"><div><strong>Spondylocostal dysostosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901825</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.">C4083048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901825">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1709064"><div><strong>Vertebral, cardiac, renal, and limb defects syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1709064</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.">C5394250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are common, mimicking the clinical features described in VACTERL association. Congenital heart defects can include left-sided heart lesions, right-sided heart lesions, or both. Almost all surviving individuals have short stature, many with disproportionately shortened limbs. Vertebral anomalies, including hemivertebrae and vertebral fusion, occur frequently, often with rib anomalies. Renal anomalies may be severe, including dysplasia/hypoplasia and renal agenesis. Developmental delay / intellectual disability has been reported in more than half of affected individuals, although some affected individuals have had normal development, and some individuals succumbed to their congenital anomalies before developmental assessment could be performed. Other less common features may include cleft palate, eye anomalies, sensorineural hearing loss, tracheoesophageal fistula, polysplenia, anteriorly displaced anus, tethered spinal cord, cystic hygroma, epilepsy, hypothyroidism, and hypoparathyroidism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1709064">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</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.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808104"><div><strong>Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808104</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.">C5677021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter. Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly rotated ears. Patients also exhibit short neck and multiple costal and vertebral anomalies. The face is rather characteristic, and various authors have consistently reported affable/friendly personality, despite intellectual delay (summary by Alanay et al., 2014). Genetic Heterogeneity of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome CFSMR2 (616994) is caused by mutation in the RAB5IF gene (619960) on chromosome 20q11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808104">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">8q24.3 microdeletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkaptonuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia/microphthalmia-esophageal atresia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341637" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive faciodigitogenital syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly type B1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorlin syndrome</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Koolen-de Vries syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_104500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Larsen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral meningocele syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal multiple pterygium syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-cervical spine fusion anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple synostoses syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy type B5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myhre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocarpotarsal synostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis 4, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis-anal and genitourinary malformations syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1709064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, renal, and limb defects syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lethal multiple pterygium syndrome</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/33037597">Intraoperative red blood cell salvage in posterior spinal fusions for idiopathic scoliosis: identifying potential criteria for selective use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wahl GE,
|
||
Luhmann SJ</span><br />
|
||
<span class="medgenPMjournal">Spine Deform</span>
|
||
2021 Mar;9(2):355-363.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1007/s43390-020-00207-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33037597" target="_blank">33037597</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26670448">Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu R,
|
||
Chen XL,
|
||
Yang XH,
|
||
Ma HJ</span><br />
|
||
<span class="medgenPMjournal">J Huazhong Univ Sci Technolog Med Sci</span>
|
||
2015 Dec;35(6):928-931.
|
||
Epub 2015 Dec 16
|
||
doi: 10.1007/s11596-015-1530-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26670448" target="_blank">26670448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26321543">One-year multidrug treatment for tuberculosis of the cervical spine in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agarwal A,
|
||
Kant KS,
|
||
Kumar A,
|
||
Shaharyar A</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg (Hong Kong)</span>
|
||
2015 Aug;23(2):168-73.
|
||
doi: 10.1177/230949901502300210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26321543" target="_blank">26321543</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22vertebral%20fusion%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 (4)</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/37950267">Comparison between oblique lumbar interbody fusion and posterior lumbar interbody fusion for the treatment of lumbar degenerative diseases: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An B,
|
||
Ren B,
|
||
Han Z,
|
||
Mao K,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2023 Nov 10;18(1):856.
|
||
doi: 10.1186/s13018-023-04312-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37950267" target="_blank">37950267</a><a href="/pmc/articles/PMC10636879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35231724">Obesity and posterior spine fusion surgery: A prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalooeifard R,
|
||
Oraee-Yazdani S,
|
||
Vahdat Shariatpanahi Z</span><br />
|
||
<span class="medgenPMjournal">Int J Orthop Trauma Nurs</span>
|
||
2022 May;45:100920.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.ijotn.2021.100920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35231724" target="_blank">35231724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35197101">Cervical non-fusion using biomimetic artificial disc and vertebra complex: technical innovation and biomechanics analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
OuYang P,
|
||
He X,
|
||
Wei X,
|
||
Sun Z,
|
||
Dong H,
|
||
Wen Z,
|
||
Wang Y,
|
||
Gu P,
|
||
Lu T,
|
||
Liu N,
|
||
Li H</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2022 Feb 23;17(1):122.
|
||
doi: 10.1186/s13018-022-03012-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35197101" target="_blank">35197101</a><a href="/pmc/articles/PMC8867629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15838495">Emergent infrahepatic vena cava stenting for life-threatening perforation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Naeyer G,
|
||
Degrieck I</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2005 Mar;41(3):552-4.
|
||
doi: 10.1016/j.jvs.2004.11.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15838495" target="_blank">15838495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2405336">Adolescent idiopathic scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunnoe BA</span><br />
|
||
<span class="medgenPMjournal">Orthop Rev</span>
|
||
1990 Jan;19(1):35-43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2405336" target="_blank">2405336</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%20fusion%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 (86)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36413195">Wildervanck syndrome: clinical case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chima-Galán MDC,
|
||
Sánchez-Beltrán NA,
|
||
García-Ortiz L</span><br />
|
||
<span class="medgenPMjournal">Arch Argent Pediatr</span>
|
||
2023 Jun 1;121(3):e202202624.
|
||
Epub 2022 Nov 24
|
||
doi: 10.5546/aap.2022-02624.eng.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36413195" target="_blank">36413195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32339744">Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srinivasan ES,
|
||
Mehta VA,
|
||
Smith GC,
|
||
Than KD,
|
||
Terry AR</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2020 Jul;139:274-280.
|
||
Epub 2020 Apr 25
|
||
doi: 10.1016/j.wneu.2020.04.148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32339744" target="_blank">32339744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577545">Klippel-Feil syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frikha R</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2020 Jan;29(1):35-37.
|
||
doi: 10.1097/MCD.0000000000000301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577545" target="_blank">31577545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30309080">Wasp waist sign: Congenital vertebral fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ridley LJ,
|
||
Han J,
|
||
Ridley WE,
|
||
Xiang H</span><br />
|
||
<span class="medgenPMjournal">J Med Imaging Radiat Oncol</span>
|
||
2018 Oct;62 Suppl 1:166-167.
|
||
doi: 10.1111/1754-9485.36_12786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30309080" target="_blank">30309080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16632715">Multiple posterior vertebral fusion abnormalities: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen JJ,
|
||
Branstetter BF 4th,
|
||
Welch WC</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2006 May;186(5):1256-9.
|
||
doi: 10.2214/AJR.04.1874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16632715" target="_blank">16632715</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%20fusion%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 (80)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37874551">Intervertebral (lumbar) disc replacement:the current state and future perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bodlák D,
|
||
Jelen K,
|
||
Lopot F</span><br />
|
||
<span class="medgenPMjournal">Neuro Endocrinol Lett</span>
|
||
2023 Oct 23;44(7):444-452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37874551" target="_blank">37874551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35703153">Hypersensitivity Reaction to Carbon Fiber-Polyetheretherketone Composite Spinal Implant: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bueno BT,
|
||
Henry M,
|
||
Cho SK</span><br />
|
||
<span class="medgenPMjournal">JBJS Case Connect</span>
|
||
2022 Apr 1;12(2)
|
||
Epub 2022 Jun 15
|
||
doi: 10.2106/JBJS.CC.21.00731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35703153" target="_blank">35703153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35231724">Obesity and posterior spine fusion surgery: A prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalooeifard R,
|
||
Oraee-Yazdani S,
|
||
Vahdat Shariatpanahi Z</span><br />
|
||
<span class="medgenPMjournal">Int J Orthop Trauma Nurs</span>
|
||
2022 May;45:100920.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.ijotn.2021.100920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35231724" target="_blank">35231724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27924730">Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rengasamy P</span><br />
|
||
<span class="medgenPMjournal">Anticancer Agents Med Chem</span>
|
||
2017;17(9):1211-1227.
|
||
doi: 10.2174/1871520616666161206150421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27924730" target="_blank">27924730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15838495">Emergent infrahepatic vena cava stenting for life-threatening perforation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Naeyer G,
|
||
Degrieck I</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2005 Mar;41(3):552-4.
|
||
doi: 10.1016/j.jvs.2004.11.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15838495" target="_blank">15838495</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%20fusion%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/35231724">Obesity and posterior spine fusion surgery: A prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalooeifard R,
|
||
Oraee-Yazdani S,
|
||
Vahdat Shariatpanahi Z</span><br />
|
||
<span class="medgenPMjournal">Int J Orthop Trauma Nurs</span>
|
||
2022 May;45:100920.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.ijotn.2021.100920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35231724" target="_blank">35231724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577545">Klippel-Feil syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frikha R</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2020 Jan;29(1):35-37.
|
||
doi: 10.1097/MCD.0000000000000301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577545" target="_blank">31577545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20058411">Freeze-dried allograft versus autograft bone in scoliosis surgery. A retrospective comparative study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Recht J,
|
||
Bayard F,
|
||
Delloye C,
|
||
Vincent A</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
1993 Dec;2(4):235-8.
|
||
doi: 10.1007/BF00299452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20058411" target="_blank">20058411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2405336">Adolescent idiopathic scoliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunnoe BA</span><br />
|
||
<span class="medgenPMjournal">Orthop Rev</span>
|
||
1990 Jan;19(1):35-43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2405336" target="_blank">2405336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3409934">Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fryns JP,
|
||
Volcke P,
|
||
van den Berghe H</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1988 Jun;147(5):550-2.
|
||
doi: 10.1007/BF00441989.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3409934" target="_blank">3409934</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%20fusion%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 (47)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37950267">Comparison between oblique lumbar interbody fusion and posterior lumbar interbody fusion for the treatment of lumbar degenerative diseases: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An B,
|
||
Ren B,
|
||
Han Z,
|
||
Mao K,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2023 Nov 10;18(1):856.
|
||
doi: 10.1186/s13018-023-04312-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37950267" target="_blank">37950267</a><a href="/pmc/articles/PMC10636879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35231724">Obesity and posterior spine fusion surgery: A prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalooeifard R,
|
||
Oraee-Yazdani S,
|
||
Vahdat Shariatpanahi Z</span><br />
|
||
<span class="medgenPMjournal">Int J Orthop Trauma Nurs</span>
|
||
2022 May;45:100920.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.ijotn.2021.100920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35231724" target="_blank">35231724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31236682">Clinical and radiographic evaluation of bioactive glass in posterior cervical and lumbar spinal fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrey C,
|
||
Broussolle T</span><br />
|
||
<span class="medgenPMjournal">Eur J Orthop Surg Traumatol</span>
|
||
2019 Dec;29(8):1623-1629.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1007/s00590-019-02477-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31236682" target="_blank">31236682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29016435">Comparison of Outcomes for Anterior Cervical Discectomy and Fusion With and Without Anterior Plate Fixation: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliver JD,
|
||
Goncalves S,
|
||
Kerezoudis P,
|
||
Alvi MA,
|
||
Freedman BA,
|
||
Nassr A,
|
||
Bydon M</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2018 Apr 1;43(7):E413-E422.
|
||
doi: 10.1097/BRS.0000000000002441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29016435" target="_blank">29016435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27924730">Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rengasamy P</span><br />
|
||
<span class="medgenPMjournal">Anticancer Agents Med Chem</span>
|
||
2017;17(9):1211-1227.
|
||
doi: 10.2174/1871520616666161206150421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27924730" target="_blank">27924730</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%20fusion%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 (70)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/40036190">Comparison of 7 surgical interventions for recurrent lumbar disc herniation: A network meta-analysis and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
|
||
Gao J,
|
||
Xie Q,
|
||
Zhang M</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2025;20(3):e0309343.
|
||
Epub 2025 Mar 4
|
||
doi: 10.1371/journal.pone.0309343.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40036190" target="_blank">40036190</a><a href="/pmc/articles/PMC11878942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37950267">Comparison between oblique lumbar interbody fusion and posterior lumbar interbody fusion for the treatment of lumbar degenerative diseases: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An B,
|
||
Ren B,
|
||
Han Z,
|
||
Mao K,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2023 Nov 10;18(1):856.
|
||
doi: 10.1186/s13018-023-04312-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37950267" target="_blank">37950267</a><a href="/pmc/articles/PMC10636879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33490241">Different Dose Regimens of Intravenous Tranexamic Acid in Adolescent Spinal Deformity Surgery: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong Z,
|
||
Wu K,
|
||
Zhang J,
|
||
Leng D,
|
||
Yu Z,
|
||
Zhang C,
|
||
Yi P</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2020;2020:3101358.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1155/2020/3101358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33490241" target="_blank">33490241</a><a href="/pmc/articles/PMC7803096" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29016435">Comparison of Outcomes for Anterior Cervical Discectomy and Fusion With and Without Anterior Plate Fixation: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliver JD,
|
||
Goncalves S,
|
||
Kerezoudis P,
|
||
Alvi MA,
|
||
Freedman BA,
|
||
Nassr A,
|
||
Bydon M</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2018 Apr 1;43(7):E413-E422.
|
||
doi: 10.1097/BRS.0000000000002441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29016435" target="_blank">29016435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27064603">Comparison of Allograft and Autograft in Lumbar Fusion for Lumbar Degenerative Diseases: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Z,
|
||
Wang CH,
|
||
Cui WL</span><br />
|
||
<span class="medgenPMjournal">J Invest Surg</span>
|
||
2016 Dec;29(6):373-382.
|
||
Epub 2016 Apr 11
|
||
doi: 10.3109/08941939.2016.1166534.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27064603" target="_blank">27064603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%20fusion%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 (5)</a></div></div>
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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=C3278509%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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<li><a href="/gtr/tests?term=C3278509%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3278509%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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