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<meta name="keywords" content="C5438458, anterior rachischisis, butterfly vertebra, butterfly vertebrae, congenital abnormality, congenital sagittal cleft of vertebra, sagittal clefting of vertebrae, 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="A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1744309
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ConceptID=C5438458
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Butterfly vertebrae</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1744309</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.">C5438458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Butterfly vertebra; Sagittal clefting of vertebrae</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital sagittal cleft of vertebra (897560004); Butterfly vertebra (897560004); Anterior rachischisis (897560004)</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:0003316">HP:0003316</a></td></tr>
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||
<div class="portlet_content ln">A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet_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">Butterfly vertebrae</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/371742" ref="tree=MeSH" title="MedGen record for Abnormal vertebral morphology">Abnormal vertebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/374194" ref="tree=MeSH" title="MedGen record for Abnormal form of the vertebral bodies">Abnormal form of the vertebral bodies</a></span><ul><li><span class="TLline"><a href="/medgen/344586" ref="tree=MeSH" title="MedGen record for Vertebral clefting">Vertebral clefting</a></span><ul><li><span class="matched_ds">Butterfly vertebrae</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_61236"><div><strong>Aicardi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61236</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.">C0175713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61236">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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.">C0796004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375885"><div><strong>Lathosterolosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375885</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.">C1846421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lathosterolosis is characterized by global developmental delays, intellectual disability, microcephaly, characteristic facial features (bitemporal narrowing, sloping forehead, epicanthal folds, ptosis, downslanting palpebral fissures, anteverted nares, broad nasal tip, long philtrum, high-arched palate, and micrognathia), cataracts, digit anomalies (postaxial polydactyly, toe syndactyly), and liver disease. The severity of liver disease can range from asymptomatic elevation of liver enzymes to cirrhosis and liver failure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375885">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_395425"><div><strong>Acro-renal-mandibular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395425</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.">C1860166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412869"><div><strong>Spondylo-megaepiphyseal-metaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412869</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.">C2750066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443954"><div><strong>ALG12-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443954</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.">C2931001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by Tahata et al., 2019). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443954">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443957"><div><strong>COG1 congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443957</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.">C2931011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_755478"><div><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>755478</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.">C2960310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/755478">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_899713"><div><strong>Spondylocostal dysostosis 6, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899713</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.">C4225279</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/899713">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621146"><div><strong>Vertebral, cardiac, renal, and limb defects syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621146</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.">C4540004</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/1621146">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1714826"><div><strong>Holoprosencephaly 13, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714826</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.">C5393308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019). For a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714826">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1711043"><div><strong>Skeletal dysplasia, mild, with joint laxity and advanced bone age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711043</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.">C5394341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711043">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1746744"><div><strong>IFAP syndrome 1, with or without BRESHECK syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1746744</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.">C5399971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1746744">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788942"><div><strong>Multiple congenital anomalies-neurodevelopmental syndrome, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788942</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.">C5542341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788069"><div><strong>Vertebral, cardiac, tracheoesophageal, renal, and limb defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788069</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.">C5543189</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794165"><div><strong>VISS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794165</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.">C5561955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794165">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824006"><div><strong>Bent bone dysplasia syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824006</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.">C5774233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bent bone dysplasia syndrome-2 (BBDS2) is characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, widely spaced nipples, and atrial septal defects. Abnormalities of muscle function are suggested by the presence of elbow fusions, ulnar flexion contractions at the wrist, and bilateral talipes equinovarus, as well as failure to mount a respiratory effort at birth (Barad et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of bent bone dysplasia syndrome, see BBDS1 (614592).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824006">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acro-renal-mandibular syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG12-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_755478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alveolar capillary dysplasia with pulmonary venous misalignment</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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bent bone dysplasia syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">COG1 congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 13, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1746744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">IFAP syndrome 1, with or without BRESHECK syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lathosterolosis</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-neurodevelopmental syndrome, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia, mild, with joint laxity and advanced bone age</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylo-megaepiphyseal-metaphyseal dysplasia</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>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis 6, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621146" 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 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, tracheoesophageal, renal, and limb defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VISS syndrome</a></div></span></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/39978942">Prenatal diagnosis and pregnancy outcomes in fetuses with vertebral abnormalities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
|
||
Zeng L,
|
||
Wang T,
|
||
Yi M,
|
||
Song J</span><br />
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||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
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2025 Dec;38(1):2468000.
|
||
Epub 2025 Feb 20
|
||
doi: 10.1080/14767058.2025.2468000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39978942" target="_blank">39978942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39696561">Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang N,
|
||
Huang N,
|
||
Chen Y,
|
||
Chen X,
|
||
Zhuang J</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Dec 18;17(1):287.
|
||
doi: 10.1186/s12920-024-02063-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39696561" target="_blank">39696561</a><a href="/pmc/articles/PMC11658080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23525384">Value of 3-dimensional sonography for prenatal diagnosis of vertebral formation failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Q,
|
||
Cai A,
|
||
Wang X,
|
||
Xie L,
|
||
Wang B,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2013 Apr;32(4):595-607.
|
||
doi: 10.7863/jum.2013.32.4.595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23525384" target="_blank">23525384</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22butterfly%20vertebrae%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 (3)</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/39164659">Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yan J,
|
||
Huang Y,
|
||
Cao L,
|
||
Dong Y,
|
||
Xu Z,
|
||
Wang F,
|
||
Gao Y,
|
||
Feng D,
|
||
Zhang M</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2024 Aug 20;24(1):532.
|
||
doi: 10.1186/s12887-024-04973-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39164659" target="_blank">39164659</a><a href="/pmc/articles/PMC11334458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33877487">Long-term follow-up of a patient with JAG1-associated retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheema MR,
|
||
Stone LG,
|
||
Sellar PW,
|
||
Quinn S,
|
||
Clark SC,
|
||
Martin RJ,
|
||
O'Brien JM,
|
||
Warriner C,
|
||
Browning AC</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2021 Oct;143(2):237-247.
|
||
Epub 2021 Apr 20
|
||
doi: 10.1007/s10633-021-09836-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33877487" target="_blank">33877487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30636772">TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wu N;
|
||
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study,
|
||
Yang N,
|
||
Takeda K,
|
||
Chen W,
|
||
Li W,
|
||
Du R,
|
||
Liu S,
|
||
Zhou Y,
|
||
Zhang L,
|
||
Liu Z,
|
||
Zuo Y,
|
||
Zhao S,
|
||
Blank R,
|
||
Pehlivan D,
|
||
Dong S,
|
||
Zhang J,
|
||
Shen J,
|
||
Si N,
|
||
Wang Y,
|
||
Liu G,
|
||
Li S,
|
||
Zhao Y,
|
||
Zhao H,
|
||
Chen Y,
|
||
Zhao Y,
|
||
Song X,
|
||
Hu J,
|
||
Lin M,
|
||
Tian Y,
|
||
Yuan B,
|
||
Yu K,
|
||
Niu Y,
|
||
Yu B,
|
||
Li X,
|
||
Chen J,
|
||
Yan Z,
|
||
Zhu Q,
|
||
Meng X,
|
||
Chen X,
|
||
Su J,
|
||
Zhao X,
|
||
Wang X,
|
||
Ming Y,
|
||
Li X,
|
||
Raggio CL,
|
||
Zhang B,
|
||
Weng X,
|
||
Zhang S,
|
||
Zhang X,
|
||
Watanabe K,
|
||
Matsumoto M;
|
||
Japan Early Onset Scoliosis Research Group,
|
||
Jin L,
|
||
Shen Y,
|
||
Sobreira NL,
|
||
Posey JE,
|
||
Giampietro PF,
|
||
Valle D;
|
||
Baylor-Hopkins Center for Mendelian Genomics,
|
||
Liu P,
|
||
Wu Z,
|
||
Ikegawa S,
|
||
Lupski JR,
|
||
Zhang F,
|
||
Qiu G</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Jul;21(7):1548-1558.
|
||
Epub 2019 Jan 14
|
||
doi: 10.1038/s41436-018-0377-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30636772" target="_blank">30636772</a><a href="/pmc/articles/PMC6659397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29159873">Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homans JF,
|
||
Tromp IN,
|
||
Colo D,
|
||
Schlösser TPC,
|
||
Kruyt MC,
|
||
Deeney VFX,
|
||
Crowley TB,
|
||
McDonald-McGinn DM,
|
||
Castelein RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Oct;176(10):2104-2120.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1002/ajmg.a.38545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29159873" target="_blank">29159873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24420446">Two- and three-dimensional prenatal sonographic diagnosis of Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wax JR,
|
||
Chard R,
|
||
Pinette MG,
|
||
Cartin A</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2014 Jun;42(5):293-6.
|
||
Epub 2014 Jan 13
|
||
doi: 10.1002/jcu.22125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24420446" target="_blank">24420446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Butterfly%20vertebrae%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30636772">TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wu N;
|
||
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study,
|
||
Yang N,
|
||
Takeda K,
|
||
Chen W,
|
||
Li W,
|
||
Du R,
|
||
Liu S,
|
||
Zhou Y,
|
||
Zhang L,
|
||
Liu Z,
|
||
Zuo Y,
|
||
Zhao S,
|
||
Blank R,
|
||
Pehlivan D,
|
||
Dong S,
|
||
Zhang J,
|
||
Shen J,
|
||
Si N,
|
||
Wang Y,
|
||
Liu G,
|
||
Li S,
|
||
Zhao Y,
|
||
Zhao H,
|
||
Chen Y,
|
||
Zhao Y,
|
||
Song X,
|
||
Hu J,
|
||
Lin M,
|
||
Tian Y,
|
||
Yuan B,
|
||
Yu K,
|
||
Niu Y,
|
||
Yu B,
|
||
Li X,
|
||
Chen J,
|
||
Yan Z,
|
||
Zhu Q,
|
||
Meng X,
|
||
Chen X,
|
||
Su J,
|
||
Zhao X,
|
||
Wang X,
|
||
Ming Y,
|
||
Li X,
|
||
Raggio CL,
|
||
Zhang B,
|
||
Weng X,
|
||
Zhang S,
|
||
Zhang X,
|
||
Watanabe K,
|
||
Matsumoto M;
|
||
Japan Early Onset Scoliosis Research Group,
|
||
Jin L,
|
||
Shen Y,
|
||
Sobreira NL,
|
||
Posey JE,
|
||
Giampietro PF,
|
||
Valle D;
|
||
Baylor-Hopkins Center for Mendelian Genomics,
|
||
Liu P,
|
||
Wu Z,
|
||
Ikegawa S,
|
||
Lupski JR,
|
||
Zhang F,
|
||
Qiu G</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Jul;21(7):1548-1558.
|
||
Epub 2019 Jan 14
|
||
doi: 10.1038/s41436-018-0377-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30636772" target="_blank">30636772</a><a href="/pmc/articles/PMC6659397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29159873">Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homans JF,
|
||
Tromp IN,
|
||
Colo D,
|
||
Schlösser TPC,
|
||
Kruyt MC,
|
||
Deeney VFX,
|
||
Crowley TB,
|
||
McDonald-McGinn DM,
|
||
Castelein RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Oct;176(10):2104-2120.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1002/ajmg.a.38545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29159873" target="_blank">29159873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24420446">Two- and three-dimensional prenatal sonographic diagnosis of Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wax JR,
|
||
Chard R,
|
||
Pinette MG,
|
||
Cartin A</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2014 Jun;42(5):293-6.
|
||
Epub 2014 Jan 13
|
||
doi: 10.1002/jcu.22125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24420446" target="_blank">24420446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22521120">Alagille syndrome: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vajro P,
|
||
Ferrante L,
|
||
Paolella G</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2012 Jun;36(3):275-7.
|
||
Epub 2012 Apr 18
|
||
doi: 10.1016/j.clinre.2012.03.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22521120" target="_blank">22521120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9039994">Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krantz ID,
|
||
Piccoli DA,
|
||
Spinner NB</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1997 Feb;34(2):152-7.
|
||
doi: 10.1136/jmg.34.2.152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9039994" target="_blank">9039994</a><a href="/pmc/articles/PMC1050871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Butterfly%20vertebrae%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 (39)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19011533">Butterfly vertebra: an uncommon congenital spinal anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patinharayil G,
|
||
Han CW,
|
||
Marthya A,
|
||
Meethall KC,
|
||
Surendran S,
|
||
Rudrappa GH</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2008 Nov 15;33(24):E926-8.
|
||
doi: 10.1097/BRS.0b013e31818ad3e1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19011533" target="_blank">19011533</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Butterfly%20vertebrae%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39978942">Prenatal diagnosis and pregnancy outcomes in fetuses with vertebral abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
|
||
Zeng L,
|
||
Wang T,
|
||
Yi M,
|
||
Song J</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2025 Dec;38(1):2468000.
|
||
Epub 2025 Feb 20
|
||
doi: 10.1080/14767058.2025.2468000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39978942" target="_blank">39978942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33877487">Long-term follow-up of a patient with JAG1-associated retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheema MR,
|
||
Stone LG,
|
||
Sellar PW,
|
||
Quinn S,
|
||
Clark SC,
|
||
Martin RJ,
|
||
O'Brien JM,
|
||
Warriner C,
|
||
Browning AC</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2021 Oct;143(2):237-247.
|
||
Epub 2021 Apr 20
|
||
doi: 10.1007/s10633-021-09836-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33877487" target="_blank">33877487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22521120">Alagille syndrome: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vajro P,
|
||
Ferrante L,
|
||
Paolella G</span><br />
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<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
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2012 Jun;36(3):275-7.
|
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Epub 2012 Apr 18
|
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doi: 10.1016/j.clinre.2012.03.019.
|
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<span class="bold">PMID: </span><a href="/pubmed/22521120" target="_blank">22521120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8209895">Jarcho-Levin syndrome: unusual survival in a classical case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCall CP,
|
||
Hudgins L,
|
||
Cloutier M,
|
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Greenstein RM,
|
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Cassidy SB</span><br />
|
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<span class="medgenPMjournal">Am J Med Genet</span>
|
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1994 Feb 1;49(3):328-32.
|
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doi: 10.1002/ajmg.1320490317.
|
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<span class="bold">PMID: </span><a href="/pubmed/8209895" target="_blank">8209895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3303344">Familial intrahepatic cholestatic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riely CA</span><br />
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<span class="medgenPMjournal">Semin Liver Dis</span>
|
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1987 May;7(2):119-33.
|
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doi: 10.1055/s-2008-1040571.
|
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<span class="bold">PMID: </span><a href="/pubmed/3303344" target="_blank">3303344</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Butterfly%20vertebrae%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39978942">Prenatal diagnosis and pregnancy outcomes in fetuses with vertebral abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
|
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Zeng L,
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Wang T,
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Yi M,
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Song J</span><br />
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<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
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2025 Dec;38(1):2468000.
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Epub 2025 Feb 20
|
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doi: 10.1080/14767058.2025.2468000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39978942" target="_blank">39978942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34558814">Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDermott H,
|
||
Robinson HK,
|
||
Caswell R,
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Gowda H,
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Offiah A,
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Naik S</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2022 Jan;188(1):298-303.
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Epub 2021 Sep 24
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<span class="bold">PMID: </span><a href="/pubmed/34558814" target="_blank">34558814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33877487">Long-term follow-up of a patient with JAG1-associated retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheema MR,
|
||
Stone LG,
|
||
Sellar PW,
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||
Quinn S,
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Clark SC,
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||
Martin RJ,
|
||
O'Brien JM,
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Warriner C,
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Browning AC</span><br />
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<span class="medgenPMjournal">Doc Ophthalmol</span>
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||
2021 Oct;143(2):237-247.
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||
Epub 2021 Apr 20
|
||
doi: 10.1007/s10633-021-09836-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33877487" target="_blank">33877487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30636772">TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wu N;
|
||
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study,
|
||
Yang N,
|
||
Takeda K,
|
||
Chen W,
|
||
Li W,
|
||
Du R,
|
||
Liu S,
|
||
Zhou Y,
|
||
Zhang L,
|
||
Liu Z,
|
||
Zuo Y,
|
||
Zhao S,
|
||
Blank R,
|
||
Pehlivan D,
|
||
Dong S,
|
||
Zhang J,
|
||
Shen J,
|
||
Si N,
|
||
Wang Y,
|
||
Liu G,
|
||
Li S,
|
||
Zhao Y,
|
||
Zhao H,
|
||
Chen Y,
|
||
Zhao Y,
|
||
Song X,
|
||
Hu J,
|
||
Lin M,
|
||
Tian Y,
|
||
Yuan B,
|
||
Yu K,
|
||
Niu Y,
|
||
Yu B,
|
||
Li X,
|
||
Chen J,
|
||
Yan Z,
|
||
Zhu Q,
|
||
Meng X,
|
||
Chen X,
|
||
Su J,
|
||
Zhao X,
|
||
Wang X,
|
||
Ming Y,
|
||
Li X,
|
||
Raggio CL,
|
||
Zhang B,
|
||
Weng X,
|
||
Zhang S,
|
||
Zhang X,
|
||
Watanabe K,
|
||
Matsumoto M;
|
||
Japan Early Onset Scoliosis Research Group,
|
||
Jin L,
|
||
Shen Y,
|
||
Sobreira NL,
|
||
Posey JE,
|
||
Giampietro PF,
|
||
Valle D;
|
||
Baylor-Hopkins Center for Mendelian Genomics,
|
||
Liu P,
|
||
Wu Z,
|
||
Ikegawa S,
|
||
Lupski JR,
|
||
Zhang F,
|
||
Qiu G</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Jul;21(7):1548-1558.
|
||
Epub 2019 Jan 14
|
||
doi: 10.1038/s41436-018-0377-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30636772" target="_blank">30636772</a><a href="/pmc/articles/PMC6659397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16149827">Spinal anomalies in Goldenhar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson PJ,
|
||
David DJ</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2005 Sep;42(5):477-80.
|
||
doi: 10.1597/04-142051r.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16149827" target="_blank">16149827</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Butterfly%20vertebrae%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 (8)</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/29159873">Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homans JF,
|
||
Tromp IN,
|
||
Colo D,
|
||
Schlösser TPC,
|
||
Kruyt MC,
|
||
Deeney VFX,
|
||
Crowley TB,
|
||
McDonald-McGinn DM,
|
||
Castelein RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Oct;176(10):2104-2120.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1002/ajmg.a.38545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29159873" target="_blank">29159873</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Butterfly%20vertebrae%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Butterfly%20vertebrae" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22butterfly%20vertebrae%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
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|
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Butterfly%20vertebrae" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Reviews</h3>
|
||
</div>
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||
<div class="portlet_content">
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||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Butterfly%20vertebrae" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Butterfly%20vertebrae%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Related information</h3>
|
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</div>
|
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1744309" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1744309" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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|
||
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||
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||
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||
|
||
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||
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|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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||
<h3>Recent activity</h3>
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||
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||
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2df96cde49f3df73cb776">Butterfly vertebrae</a>
|
||
<div class="ralinkpop offscreen_noflow">Butterfly vertebrae<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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</li>
|
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2df94cde49f3df73ca49e">Bifid ribs</a>
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<div class="ralinkpop offscreen_noflow">Bifid ribs<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d2df9284f3725e59a4e1e1">Dandy-Walker malformation</a>
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