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<meta name="keywords" content="C4540014, congenital nad deficiency disorder 2, disease or syndrome, kynu, kynureninase deficiency, complete, vcrl2, vertebral, cardiac, renal, and limb defects syndrome 2, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1624065
|
||
ConceptID=C4540014
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vertebral, cardiac, renal, and limb defects syndrome 2<span class="h1sub">(VCRL2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624065</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:">C4540014</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CONGENITAL NAD DEFICIENCY DISORDER 2; KYNURENINASE DEFICIENCY, COMPLETE</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KYNU - ID: 8942 - NCBI Gene" href="/gene/8942" class="medgenPMinfo">KYNU</a> (2q22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0060555" target="_blank">MONDO:0060555</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617661" target="_blank">617661</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK593504" target="_blank">Congenital NAD Deficiency Disorder</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK593504#nad-def.Summary" target="NBK593504">Summary</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Diagnosis" target="NBK593504">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Clinical_Characteristics" target="NBK593504">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Genetically_Related_Allelic_Diso" target="NBK593504">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Differential_Diagnosis" target="NBK593504">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Management" target="NBK593504">Management</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Genetic_Counseling" target="NBK593504">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Resources" target="NBK593504">Resources</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Molecular_Genetics" target="NBK593504">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.Chapter_Notes" target="NBK593504">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK593504#nad-def.References" target="NBK593504">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Paul Mark | Sally Dunwoodie <a href="/books/NBK593504" target="NBK593504" title="NCBI Bookshelf: Congenital NAD Deficiency Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Vertebral, cardiac, renal, and limb defects syndrome-2 (VCRL2) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017).
|
||
For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660). <a target="_blank" href="http://www.omim.org/entry/617661">http://www.omim.org/entry/617661</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_75607"><div><strong>Unilateral renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75607</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.">C0266294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A unilateral form of agenesis of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75607">Feature record</a> | <a href="/medgen?term=%22Unilateral%20renal%20agenesis%22%5BClinical%20Features%5D%20OR%2075607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120571"><div><strong>Renal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120571</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.">C0266295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120571">Feature record</a> | <a href="/medgen?term=%22Renal%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120571%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473458"><div><strong>Chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473458</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.">C1561643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Functional anomaly of the kidney persisting for at least three months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473458">Feature record</a> | <a href="/medgen?term=%22Chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20473458%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220976"><div><strong>Talipes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220976</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.">C1301937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220976">Feature record</a> | <a href="/medgen?term=%22Talipes%22%5BClinical%20Features%5D%20OR%20220976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_357122"><div><strong>Rhizomelia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357122</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.">C1866730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357122">Feature record</a> | <a href="/medgen?term=%22Rhizomelia%22%5BClinical%20Features%5D%20OR%20357122%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4415"><div><strong>Patent ductus arteriosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4415</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.">C0013274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4415">Feature record</a> | <a href="/medgen?term=%22Patent%20ductus%20arteriosus%22%5BClinical%20Features%5D%20OR%204415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57746"><div><strong>Hypoplastic left heart syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57746</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.">C0152101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57746">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20left%20heart%20syndrome%22%5BClinical%20Features%5D%20OR%2057746%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333160"><div><strong>Anteriorly placed anus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333160</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.">C1838705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior malposition of the anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333160">Feature record</a> | <a href="/medgen?term=%22Anteriorly%20placed%20anus%22%5BClinical%20Features%5D%20OR%20333160%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82720"><div><strong>Hemivertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82720</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.">C0265677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of one half of the vertebral body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82720">Feature record</a> | <a href="/medgen?term=%22Hemivertebrae%22%5BClinical%20Features%5D%20OR%2082720%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96528"><div><strong>Narrow chest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96528</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.">C0426790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96528">Feature record</a> | <a href="/medgen?term=%22Narrow%20chest%22%5BClinical%20Features%5D%20OR%2096528%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96577"><div><strong>Vertebral segmentation defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96577</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.">C0432163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality related to a defect of vertebral separation during development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96577">Feature record</a> | <a href="/medgen?term=%22Vertebral%20segmentation%20defect%22%5BClinical%20Features%5D%20OR%2096577%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326950"><div><strong>11 pairs of ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326950</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.">C1839731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of only 11 pairs of ribs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326950">Feature record</a> | <a href="/medgen?term=%2211%20pairs%20of%20ribs%22%5BClinical%20Features%5D%20OR%20326950%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1864107"><div><strong>Elevated circulating 3-hydroxykynurenine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864107</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.">C5937504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of 3-hydroxykynurenine in the blood circulation is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1864107">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%203-hydroxykynurenine%20concentration%22%5BClinical%20Features%5D%20OR%201864107%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhizomelia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Talipes</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating 3-hydroxykynurenine concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic left heart syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patent ductus arteriosus</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteriorly placed anus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unilateral renal agenesis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">11 pairs of ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemivertebrae</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow chest</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral segmentation defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></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/36461829">Fibrofatty filum terminale: long-term outcomes from a Singapore children's hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim JX,
|
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Fong E,
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Goh C,
|
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Ng LP,
|
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Merchant K,
|
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Low DCY,
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Seow WT,
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Low SYY</span><br />
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<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
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2023 Mar 1;31(3):197-205.
|
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Epub 2022 Dec 2
|
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doi: 10.3171/2022.8.PEDS22103.
|
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<span class="bold">PMID: </span><a href="/pubmed/36461829" target="_blank">36461829</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36062518">Clinical and genetic approach in the characterization of newborns with anorectal malformation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schierz IAM,
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Piro E,
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Giuffrè M,
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Pinello G,
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Cimador M,
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<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
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Epub 2020 Dec 1
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<span class="bold">PMID: </span><a href="/pubmed/36062518" target="_blank">36062518</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33086350">Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Forman M,
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Bauer AS;
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<span class="bold">PMID: </span><a href="/pubmed/33086350" target="_blank">33086350</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32319733">Maternal risk factors for the VACTERL association: A EUROCAT case-control study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van de Putte R,
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Luyt K,
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Miller N,
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Mullaney C,
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Nelen V,
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2020 May 15;112(9):688-698.
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<div class="nl"><a target="_blank" href="/pubmed/31959377">Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Halverson SJ,
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Takayama S,
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<span class="bold">PMID: </span><a href="/pubmed/31959377" target="_blank">31959377</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%2C%20cardiac%2C%20renal%2C%20and%20limb%20defects%20syndrome%202%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36062518">Clinical and genetic approach in the characterization of newborns with anorectal malformation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schierz IAM,
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Piro E,
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Giuffrè M,
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Pinello G,
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Angelini A,
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Antona V,
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Cimador M,
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Corsello G</span><br />
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<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
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2022 Dec;35(23):4513-4520.
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Epub 2020 Dec 1
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doi: 10.1080/14767058.2020.1854213.
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<span class="bold">PMID: </span><a href="/pubmed/36062518" target="_blank">36062518</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30548801">Associated anomalies in cases with anorectal anomalies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stoll C,
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<span class="bold">PMID: </span><a href="/pubmed/30548801" target="_blank">30548801</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aucourt J,
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Budzik JF,
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Manouvrier-Hanu S,
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Mézel A,
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<div class="nl"><a target="_blank" href="/pubmed/17359527">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morcel K,
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Camborieux L;
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<span class="bold">PMID: </span><a href="/pubmed/17359527" target="_blank">17359527</a><a href="/pmc/articles/PMC1832178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%2C%20cardiac%2C%20renal%2C%20and%20limb%20defects%20syndrome%202%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 (25)</a></div><h3 class="subhead">Therapy</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brosens E,
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<div class="nl"><a target="_blank" href="/pubmed/23574029">Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wijers CH,
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<span class="bold">PMID: </span><a href="/pubmed/23574029" target="_blank">23574029</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/20849991" target="_blank">20849991</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%2C%20cardiac%2C%20renal%2C%20and%20limb%20defects%20syndrome%202%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35943565">Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Esposito G,
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Totonelli G,
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Iacobelli BD,
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Longo D,
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Caldaro T,
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Blasetti G,
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Bevilacqua F,
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Santato F,
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Lucignani G,
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Sollini ML,
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Marras CE,
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Bagolan P,
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Mosiello G</span><br />
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<span class="medgenPMjournal">Pediatr Surg Int</span>
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2022 Oct;38(10):1461-1472.
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Epub 2022 Aug 9
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doi: 10.1007/s00383-022-05168-1.
|
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<span class="bold">PMID: </span><a href="/pubmed/35943565" target="_blank">35943565</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32055959">Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amelot A,
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Cretolle C,
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de Saint Denis T,
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Sarnacki S,
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Catala M,
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Zerah M</span><br />
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2020 Jul;179(7):1121-1129.
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Epub 2020 Feb 13
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doi: 10.1007/s00431-020-03609-4.
|
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<span class="bold">PMID: </span><a href="/pubmed/32055959" target="_blank">32055959</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/24783652">Fryns syndrome with vertebral defects: a novel association in a Mexican infant.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Salinas-Torres VM,
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Rivera H</span><br />
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2014;25(1):29-33.
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<span class="bold">PMID: </span><a href="/pubmed/24783652" target="_blank">24783652</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/22648430">Congenital malformations of the hand and forearm in children: what radiologists should know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aucourt J,
|
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Budzik JF,
|
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Manouvrier-Hanu S,
|
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Mézel A,
|
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Cotten A,
|
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Boutry N</span><br />
|
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<span class="medgenPMjournal">Semin Musculoskelet Radiol</span>
|
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2012 Apr;16(2):146-58.
|
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Epub 2012 May 30
|
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doi: 10.1055/s-0032-1311766.
|
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<span class="bold">PMID: </span><a href="/pubmed/22648430" target="_blank">22648430</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/21846383">VACTERL/VATER Association.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2011 Aug 16;6:56.
|
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doi: 10.1186/1750-1172-6-56.
|
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<span class="bold">PMID: </span><a href="/pubmed/21846383" target="_blank">21846383</a><a href="/pmc/articles/PMC3169446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%2C%20cardiac%2C%20renal%2C%20and%20limb%20defects%20syndrome%202%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36461829">Fibrofatty filum terminale: long-term outcomes from a Singapore children's hospital.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lim JX,
|
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Fong E,
|
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Goh C,
|
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Ng LP,
|
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Merchant K,
|
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Low DCY,
|
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Seow WT,
|
||
Low SYY</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2023 Mar 1;31(3):197-205.
|
||
Epub 2022 Dec 2
|
||
doi: 10.3171/2022.8.PEDS22103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36461829" target="_blank">36461829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36062518">Clinical and genetic approach in the characterization of newborns with anorectal malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierz IAM,
|
||
Piro E,
|
||
Giuffrè M,
|
||
Pinello G,
|
||
Angelini A,
|
||
Antona V,
|
||
Cimador M,
|
||
Corsello G</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(23):4513-4520.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1080/14767058.2020.1854213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36062518" target="_blank">36062518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35943565">Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esposito G,
|
||
Totonelli G,
|
||
Iacobelli BD,
|
||
Longo D,
|
||
Caldaro T,
|
||
Blasetti G,
|
||
Bevilacqua F,
|
||
Santato F,
|
||
Lucignani G,
|
||
Sollini ML,
|
||
Marras CE,
|
||
Bagolan P,
|
||
Mosiello G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2022 Oct;38(10):1461-1472.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1007/s00383-022-05168-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35943565" target="_blank">35943565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31470372">VACTERL Association with Situs Inversus Totalis: A Unique Combination.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Slagle CL,
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Schulz EV,
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Annibale DJ</span><br />
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<span class="medgenPMjournal">Neonatal Netw</span>
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2019 Mar 1;38(2):98-106.
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Epub 2019 Mar 6
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doi: 10.1891/0730-0832.38.2.98.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31470372" target="_blank">31470372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21910217">X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">McCauley J,
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Masand N,
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McGowan R,
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Rajagopalan S,
|
||
Hunter A,
|
||
Michaud JL,
|
||
Gibson K,
|
||
Robertson J,
|
||
Vaz F,
|
||
Abbs S,
|
||
Holden ST</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 Oct;155A(10):2370-80.
|
||
Epub 2011 Sep 9
|
||
doi: 10.1002/ajmg.a.33913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21910217" target="_blank">21910217</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vertebral%2C%20cardiac%2C%20renal%2C%20and%20limb%20defects%20syndrome%202%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 (11)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4540014%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
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<li><a href="/gtr/tests?term=C4540014%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
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