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<meta name="keywords" content="C4551856, asphyxiating thoracic dystrophy 1, asphyxiating thoracic dystrophy type 1, atd1, congenital abnormality, disease or syndrome, jeune syndrome, short-rib thoracic dysplasia 1 with or without polydactyly, srtd1, thoracic-pelvic-phalangeal dystrophy, 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="Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112). See also SRTD12 (Beemer-Langer syndrome; 269860)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1648057
|
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ConceptID=C4551856
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Asphyxiating thoracic dystrophy 1<span class="h1sub">(ATD1; SRTD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648057</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.">C4551856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Short-rib thoracic dysplasia 1 with or without polydactyly</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Cytogenetic location:</td>
|
||
<td>15q13</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008831" target="_blank">MONDO:0008831</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/208500" target="_blank">208500</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>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112). See also SRTD12 (Beemer-Langer syndrome; 269860). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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||
<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 MedlinePlus Genetics</strong><br />Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.<br /><br />Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. <a target="_blank" href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy">https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%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_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_510636"><div><strong>Hand polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>510636</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.">C0158733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/510636">Feature record</a> | <a href="/medgen?term=%22Hand%20polydactyly%22%5BClinical%20Features%5D%20OR%20510636%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_510637"><div><strong>Foot polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>510637</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.">C0158734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of polydactyly characterized by the presence of a supernumerary toe or toes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/510637">Feature record</a> | <a href="/medgen?term=%22Foot%20polydactyly%22%5BClinical%20Features%5D%20OR%20510637%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67454"><div><strong>Brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67454</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.">C0221357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67454">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%22%5BClinical%20Features%5D%20OR%2067454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163753"><div><strong>Short phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163753</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.">C0877165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short (hypoplastic) phalanx of finger, affecting one or more phalanges.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163753">Feature record</a> | <a href="/medgen?term=%22Short%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20163753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_316909"><div><strong>Fibular hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316909</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.">C1832119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the fibula.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316909">Feature record</a> | <a href="/medgen?term=%22Fibular%20hypoplasia%22%5BClinical%20Features%5D%20OR%20316909%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395934"><div><strong>Hypoplasia of the ulna</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395934</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.">C1860614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the ulna.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395934">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20ulna%22%5BClinical%20Features%5D%20OR%20395934%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11031"><div><strong>Pulmonary valve insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11031</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.">C0034088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11031">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20valve%20insufficiency%22%5BClinical%20Features%5D%20OR%2011031%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_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45293"><div><strong>Pancreatic cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45293</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.">C0030283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cyst of the pancreas that possess a lining of mucous epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45293">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20cysts%22%5BClinical%20Features%5D%20OR%2045293%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56388"><div><strong>Autosomal dominant polycystic liver disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56388</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.">C0158683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56388">Feature record</a> | <a href="/medgen?term=%22Autosomal%20dominant%20polycystic%20liver%20disease%22%5BClinical%20Features%5D%20OR%2056388%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120603"><div><strong>Bile duct proliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120603</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.">C0267818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proliferative changes of the bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120603">Feature record</a> | <a href="/medgen?term=%22Bile%20duct%20proliferation%22%5BClinical%20Features%5D%20OR%20120603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120607"><div><strong>Pancreatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120607</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.">C0267952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120607">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20120607%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_98426"><div><strong>Lateral clavicle hook</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98426</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.">C0426805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An excessive upward convexity of the lateral clavicle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98426">Feature record</a> | <a href="/medgen?term=%22Lateral%20clavicle%20hook%22%5BClinical%20Features%5D%20OR%2098426%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98094"><div><strong>Short ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98094</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.">C0426817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced rib length.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98094">Feature record</a> | <a href="/medgen?term=%22Short%20ribs%22%5BClinical%20Features%5D%20OR%2098094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853272"><div><strong>Thoracic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853272</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.">C1406921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853272">Feature record</a> | <a href="/medgen?term=%22Thoracic%20dysplasia%22%5BClinical%20Features%5D%20OR%20853272%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_325478"><div><strong>Metaphyseal irregularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325478</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.">C1838662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Irregularity of the normally smooth surface of the metaphyses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325478">Feature record</a> | <a href="/medgen?term=%22Metaphyseal%20irregularity%22%5BClinical%20Features%5D%20OR%20325478%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337584"><div><strong>Irregular epiphyses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337584</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.">C1846449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337584">Feature record</a> | <a href="/medgen?term=%22Irregular%20epiphyses%22%5BClinical%20Features%5D%20OR%20337584%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347156"><div><strong>Cone-shaped epiphyses of the phalanges of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347156</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.">C1859480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347156">Feature record</a> | <a href="/medgen?term=%22Cone-shaped%20epiphyses%20of%20the%20phalanges%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%20347156%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351279"><div><strong>Hypoplastic iliac wing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351279</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.">C1865027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the ilium ala.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351279">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20iliac%20wing%22%5BClinical%20Features%5D%20OR%20351279%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760700"><div><strong>Hypoplastic pelvis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760700</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.">C3536734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the bony pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760700">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20pelvis%22%5BClinical%20Features%5D%20OR%20760700%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812840"><div><strong>Horizontal ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812840</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.">C3806510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812840">Feature record</a> | <a href="/medgen?term=%22Horizontal%20ribs%22%5BClinical%20Features%5D%20OR%20812840%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870187"><div><strong>Early ossification of capital femoral epiphyses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870187</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.">C4024621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental acceleration of ossification of the proximal epiphysis of the femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870187">Feature record</a> | <a href="/medgen?term=%22Early%20ossification%20of%20capital%20femoral%20epiphyses%22%5BClinical%20Features%5D%20OR%20870187%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78574"><div><strong>Pulmonary hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78574</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.">C0265783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78574">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20hypoplasia%22%5BClinical%20Features%5D%20OR%2078574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14328"><div><strong>Nephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14328</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.">C0027697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of inflammation affecting the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14328">Feature record</a> | <a href="/medgen?term=%22Nephritis%22%5BClinical%20Features%5D%20OR%2014328%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82787"><div><strong>Conjugated hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82787</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.">C0268307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally high level of conjugated bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82787">Feature record</a> | <a href="/medgen?term=%22Conjugated%20hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2082787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48432"><div><strong>Retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48432</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.">C0035304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48432">Feature record</a> | <a href="/medgen?term=%22Retinal%20degeneration%22%5BClinical%20Features%5D%20OR%2048432%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_316909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibular hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_510637" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foot polydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_510636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand polydactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the ulna</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short phalanx of finger</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_82787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjugated hyperbilirubinemia</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_11031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary valve insufficiency</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_56388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant polycystic liver disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile duct proliferation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic fibrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal degeneration</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_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephritis</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_347156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-shaped epiphyses of the phalanges of the hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early ossification of capital femoral epiphyses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic iliac wing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760700" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic pelvis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irregular epiphyses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral clavicle hook</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal irregularity</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_98094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracic dysplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</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="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265275[DISCUI]&test_type=Clinical" ref="ncbi_uid=78548">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0265275[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=78548">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78548" target="_blank" href="/omim/208500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78548" ref="ncbi_uid=78548">V</a></span></span><span class="TLline"><a href="/medgen/78548" ref="tree=GTR&ncbi_uid=78548&link_uid=78548" title="View MedGen record for 'Jeune thoracic dystrophy'">Jeune thoracic dystrophy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551856[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648057">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648057" target="_blank" href="/omim/208500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648057" ref="ncbi_uid=1648057">V</a></span></span><span class="TLline">Asphyxiating thoracic dystrophy 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970005[DISCUI]&test_type=Clinical" ref="ncbi_uid=370804">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370804" target="_blank" href="/omim/611263">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370804" ref="ncbi_uid=370804">V</a></span></span><span class="TLline"><a href="/medgen/370804" ref="tree=GTR&ncbi_uid=370804&link_uid=370804" title="View MedGen record for 'Asphyxiating thoracic dystrophy 2'">Asphyxiating thoracic dystrophy 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0036069[DISCUI]&test_type=Clinical" ref="ncbi_uid=19860">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=19860" target="_blank" href="/omim/603297">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19860" ref="ncbi_uid=19860">V</a></span></span><span class="TLline"><a href="/medgen/19860" ref="tree=GTR&ncbi_uid=19860&link_uid=19860" title="View MedGen record for 'Asphyxiating thoracic dystrophy 3'">Asphyxiating thoracic dystrophy 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151185[DISCUI]&test_type=Clinical" ref="ncbi_uid=462535">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462535" target="_blank" href="/omim/613819">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462535" ref="ncbi_uid=462535">V</a></span></span><span class="TLline"><a href="/medgen/462535" ref="tree=GTR&ncbi_uid=462535&link_uid=462535" title="View MedGen record for 'Asphyxiating thoracic dystrophy 4'">Asphyxiating thoracic dystrophy 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280598[DISCUI]&test_type=Clinical" ref="ncbi_uid=482228">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482228" target="_blank" href="/omim/614376">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482228" ref="ncbi_uid=482228">V</a></span></span><span class="TLline"><a href="/medgen/482228" ref="tree=GTR&ncbi_uid=482228&link_uid=482228" title="View MedGen record for 'Asphyxiating thoracic dystrophy 5'">Asphyxiating thoracic dystrophy 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826140" ref="tree=MeSH" title="MedGen record for Inherited renal tubular disease">Inherited renal tubular disease</a></span><ul><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span><ul><li><span class="matched_ds">Asphyxiating thoracic dystrophy 1</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35339395">Thoracic insufficiency syndrome: Approaches to assessment and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsukahara K,
|
||
Mayer OH</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2022 Dec;44:78-84.
|
||
Epub 2022 Mar 7
|
||
doi: 10.1016/j.prrv.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35339395" target="_blank">35339395</a><a href="/pmc/articles/PMC9448829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32154601">Prenatal Diagnosis of Jeune Syndrome by Whole-Exome Sequencing in a Case With Mild Skeletal Changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adamo L,
|
||
Kassif E,
|
||
Jacobson JM,
|
||
Achiron R</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2020 Sep;39(9):1869-1871.
|
||
Epub 2020 Mar 10
|
||
doi: 10.1002/jum.15266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32154601" target="_blank">32154601</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12868098">Early prenatal diagnosis of Jeune syndrome in a low-risk pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen SH,
|
||
Chung MT,
|
||
Chang FM</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Jul;23(7):606-7.
|
||
doi: 10.1002/pd.635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12868098" target="_blank">12868098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(asphyxiating%20thoracic%20dystrophy%201)%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 (5)</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/35339395">Thoracic insufficiency syndrome: Approaches to assessment and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsukahara K,
|
||
Mayer OH</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2022 Dec;44:78-84.
|
||
Epub 2022 Mar 7
|
||
doi: 10.1016/j.prrv.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35339395" target="_blank">35339395</a><a href="/pmc/articles/PMC9448829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34280564">Clinical phenocopies of albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dumitrescu AV,
|
||
Pfeifer WL,
|
||
Drack AV</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2021 Aug;25(4):220.e1-220.e8.
|
||
Epub 2021 Jul 17
|
||
doi: 10.1016/j.jaapos.2021.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34280564" target="_blank">34280564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26167768">An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheway G,
|
||
Schmidts M,
|
||
Mans DA,
|
||
Szymanska K,
|
||
Nguyen TT,
|
||
Racher H,
|
||
Phelps IG,
|
||
Toedt G,
|
||
Kennedy J,
|
||
Wunderlich KA,
|
||
Sorusch N,
|
||
Abdelhamed ZA,
|
||
Natarajan S,
|
||
Herridge W,
|
||
van Reeuwijk J,
|
||
Horn N,
|
||
Boldt K,
|
||
Parry DA,
|
||
Letteboer SJF,
|
||
Roosing S,
|
||
Adams M,
|
||
Bell SM,
|
||
Bond J,
|
||
Higgins J,
|
||
Morrison EE,
|
||
Tomlinson DC,
|
||
Slaats GG,
|
||
van Dam TJP,
|
||
Huang L,
|
||
Kessler K,
|
||
Giessl A,
|
||
Logan CV,
|
||
Boyle EA,
|
||
Shendure J,
|
||
Anazi S,
|
||
Aldahmesh M,
|
||
Al Hazzaa S,
|
||
Hegele RA,
|
||
Ober C,
|
||
Frosk P,
|
||
Mhanni AA,
|
||
Chodirker BN,
|
||
Chudley AE,
|
||
Lamont R,
|
||
Bernier FP,
|
||
Beaulieu CL,
|
||
Gordon P,
|
||
Pon RT,
|
||
Donahue C,
|
||
Barkovich AJ,
|
||
Wolf L,
|
||
Toomes C,
|
||
Thiel CT,
|
||
Boycott KM,
|
||
McKibbin M,
|
||
Inglehearn CF;
|
||
UK10K Consortium;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Stewart F,
|
||
Omran H,
|
||
Huynen MA,
|
||
Sergouniotis PI,
|
||
Alkuraya FS,
|
||
Parboosingh JS,
|
||
Innes AM,
|
||
Willoughby CE,
|
||
Giles RH,
|
||
Webster AR,
|
||
Ueffing M,
|
||
Blacque O,
|
||
Gleeson JG,
|
||
Wolfrum U,
|
||
Beales PL,
|
||
Gibson T,
|
||
Doherty D,
|
||
Mitchison HM,
|
||
Roepman R,
|
||
Johnson CA</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2015 Aug;17(8):1074-1087.
|
||
Epub 2015 Jul 13
|
||
doi: 10.1038/ncb3201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26167768" target="_blank">26167768</a><a href="/pmc/articles/PMC4536769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23985472">Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poyner SE,
|
||
Bradshaw WT</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2013 Sep-Oct;32(5):342-52.
|
||
doi: 10.1891/0730-0832.32.5.342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23985472" target="_blank">23985472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791528">Ciliary disorder of the skeleton.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):165-74.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791528" target="_blank">22791528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asphyxiating%20thoracic%20dystrophy%201%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 (47)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35612223">Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faviez C,
|
||
Vincent M,
|
||
Garcelon N,
|
||
Michot C,
|
||
Baujat G,
|
||
Cormier-Daire V,
|
||
Saunier S,
|
||
Chen X,
|
||
Burgun A</span><br />
|
||
<span class="medgenPMjournal">Stud Health Technol Inform</span>
|
||
2022 May 25;294:844-848.
|
||
doi: 10.3233/SHTI220604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35612223" target="_blank">35612223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34280564">Clinical phenocopies of albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dumitrescu AV,
|
||
Pfeifer WL,
|
||
Drack AV</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2021 Aug;25(4):220.e1-220.e8.
|
||
Epub 2021 Jul 17
|
||
doi: 10.1016/j.jaapos.2021.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34280564" target="_blank">34280564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26747620">Thoracic Insufficiency Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer O,
|
||
Campbell R,
|
||
Cahill P,
|
||
Redding G</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2016 Mar;46(3):72-97.
|
||
Epub 2015 Dec 30
|
||
doi: 10.1016/j.cppeds.2015.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26747620" target="_blank">26747620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25434647">Chest wall hypoplasia--principles and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer OH</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2015 Jan;16(1):30-4.
|
||
Epub 2014 Nov 5
|
||
doi: 10.1016/j.prrv.2014.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25434647" target="_blank">25434647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10771855">Chest wall deformities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golladay ES,
|
||
Golladay GJ</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1997 May-Jun;64(3):339-50.
|
||
doi: 10.1007/BF02845203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10771855" target="_blank">10771855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asphyxiating%20thoracic%20dystrophy%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (80)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25500290">Successful recovery from respiratory failure by external distraction sternoplasty in a patient with Jeune syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park S,
|
||
Kang CH,
|
||
Park IK,
|
||
Kim YT</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2015 Mar;149(3):e53-5.
|
||
Epub 2014 Nov 20
|
||
doi: 10.1016/j.jtcvs.2014.11.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25500290" target="_blank">25500290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19034177">Mortality and life-threatening events after vertical expandable prosthetic titanium rib surgery in children with hypoplastic chest wall deformity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Betz RR,
|
||
Mulcahey MJ,
|
||
Ramirez N,
|
||
Flynn JM,
|
||
Smith JT,
|
||
St Hilaire T,
|
||
Campbell RM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2008 Dec;28(8):850-3.
|
||
doi: 10.1097/BPO.0b013e31818e19a4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19034177" target="_blank">19034177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15847261">Serious cardiac and pulmonary calcification in a young peritoneal dialysis patient: potential role of continuous correction of acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakagawa M,
|
||
Kise K,
|
||
Okamoto N,
|
||
Fujino H,
|
||
Iwai M,
|
||
Nomura Y,
|
||
Sawa H</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2005 Apr;63(4):313-6.
|
||
doi: 10.5414/cnp63313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15847261" target="_blank">15847261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10588838">Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labrune P,
|
||
Fabre M,
|
||
Trioche P,
|
||
Estournet-Mathiaud B,
|
||
Grangeponte MC,
|
||
Rambaud C,
|
||
Maurage C,
|
||
Bernard O</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1999 Dec 3;87(4):324-8.
|
||
doi: 10.1002/(sici)1096-8628(19991203)87:4<324::aid-ajmg8>3.0.co;2-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10588838" target="_blank">10588838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10366091">Pseudotumor cerebri in children receiving recombinant human growth hormone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers AH,
|
||
Rogers GL,
|
||
Bremer DL,
|
||
McGregor ML</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1999 Jun;106(6):1186-9; discussion 1189-90.
|
||
doi: 10.1016/S0161-6420(99)90266-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10366091" target="_blank">10366091</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asphyxiating%20thoracic%20dystrophy%201%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23985472">Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poyner SE,
|
||
Bradshaw WT</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2013 Sep-Oct;32(5):342-52.
|
||
doi: 10.1891/0730-0832.32.5.342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23985472" target="_blank">23985472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23339108">Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baujat G,
|
||
Huber C,
|
||
El Hokayem J,
|
||
Caumes R,
|
||
Do Ngoc Thanh C,
|
||
David A,
|
||
Delezoide AL,
|
||
Dieux-Coeslier A,
|
||
Estournet B,
|
||
Francannet C,
|
||
Kayirangwa H,
|
||
Lacaille F,
|
||
Le Bourgeois M,
|
||
Martinovic J,
|
||
Salomon R,
|
||
Sigaudy S,
|
||
Malan V,
|
||
Munnich A,
|
||
Le Merrer M,
|
||
Le Quan Sang KH,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2013 Feb;50(2):91-8.
|
||
doi: 10.1136/jmedgenet-2012-101282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23339108" target="_blank">23339108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21465651">Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
|
||
Adam MP,
|
||
Welch J,
|
||
Muilenburg A,
|
||
Willing MC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 May;155A(5):1021-32.
|
||
Epub 2011 Apr 4
|
||
doi: 10.1002/ajmg.a.33892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21465651" target="_blank">21465651</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21053163">VEPTR (Vertical Expandible Prosthetic Titanium Rib) treatment for Jeune syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacher M,
|
||
Dietz HG</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2011 Mar;21(2):138-9.
|
||
Epub 2010 Nov 4
|
||
doi: 10.1055/s-0030-1267222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21053163" target="_blank">21053163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10771855">Chest wall deformities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golladay ES,
|
||
Golladay GJ</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1997 May-Jun;64(3):339-50.
|
||
doi: 10.1007/BF02845203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10771855" target="_blank">10771855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asphyxiating%20thoracic%20dystrophy%201%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 (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34897015">THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fomenko NM,
|
||
Synoverska OB,
|
||
Marchuk LI,
|
||
Dziubynsky YS</span><br />
|
||
<span class="medgenPMjournal">Wiad Lek</span>
|
||
2021;74(10 pt 1):2520-2524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34897015" target="_blank">34897015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26167768">An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheway G,
|
||
Schmidts M,
|
||
Mans DA,
|
||
Szymanska K,
|
||
Nguyen TT,
|
||
Racher H,
|
||
Phelps IG,
|
||
Toedt G,
|
||
Kennedy J,
|
||
Wunderlich KA,
|
||
Sorusch N,
|
||
Abdelhamed ZA,
|
||
Natarajan S,
|
||
Herridge W,
|
||
van Reeuwijk J,
|
||
Horn N,
|
||
Boldt K,
|
||
Parry DA,
|
||
Letteboer SJF,
|
||
Roosing S,
|
||
Adams M,
|
||
Bell SM,
|
||
Bond J,
|
||
Higgins J,
|
||
Morrison EE,
|
||
Tomlinson DC,
|
||
Slaats GG,
|
||
van Dam TJP,
|
||
Huang L,
|
||
Kessler K,
|
||
Giessl A,
|
||
Logan CV,
|
||
Boyle EA,
|
||
Shendure J,
|
||
Anazi S,
|
||
Aldahmesh M,
|
||
Al Hazzaa S,
|
||
Hegele RA,
|
||
Ober C,
|
||
Frosk P,
|
||
Mhanni AA,
|
||
Chodirker BN,
|
||
Chudley AE,
|
||
Lamont R,
|
||
Bernier FP,
|
||
Beaulieu CL,
|
||
Gordon P,
|
||
Pon RT,
|
||
Donahue C,
|
||
Barkovich AJ,
|
||
Wolf L,
|
||
Toomes C,
|
||
Thiel CT,
|
||
Boycott KM,
|
||
McKibbin M,
|
||
Inglehearn CF;
|
||
UK10K Consortium;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Stewart F,
|
||
Omran H,
|
||
Huynen MA,
|
||
Sergouniotis PI,
|
||
Alkuraya FS,
|
||
Parboosingh JS,
|
||
Innes AM,
|
||
Willoughby CE,
|
||
Giles RH,
|
||
Webster AR,
|
||
Ueffing M,
|
||
Blacque O,
|
||
Gleeson JG,
|
||
Wolfrum U,
|
||
Beales PL,
|
||
Gibson T,
|
||
Doherty D,
|
||
Mitchison HM,
|
||
Roepman R,
|
||
Johnson CA</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2015 Aug;17(8):1074-1087.
|
||
Epub 2015 Jul 13
|
||
doi: 10.1038/ncb3201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26167768" target="_blank">26167768</a><a href="/pmc/articles/PMC4536769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23315050">Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaballie H,
|
||
Renard M,
|
||
Vermylen C,
|
||
Scheers I,
|
||
Revencu N,
|
||
Regal L,
|
||
Cassiman D,
|
||
Sevenants L,
|
||
Hoffman I,
|
||
Corveleyn A,
|
||
Bordon V,
|
||
Haerynck F,
|
||
Allegaert K,
|
||
De Boeck K,
|
||
Roskams T,
|
||
Boeckx N,
|
||
Bossuyt X,
|
||
Meyts I</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2013 May;172(5):613-22.
|
||
Epub 2013 Jan 12
|
||
doi: 10.1007/s00431-012-1908-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23315050" target="_blank">23315050</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791528">Ciliary disorder of the skeleton.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):165-74.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791528" target="_blank">22791528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21465651">Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
|
||
Adam MP,
|
||
Welch J,
|
||
Muilenburg A,
|
||
Willing MC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 May;155A(5):1021-32.
|
||
Epub 2011 Apr 4
|
||
doi: 10.1002/ajmg.a.33892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21465651" target="_blank">21465651</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Asphyxiating%20thoracic%20dystrophy%201%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 (26)</a></div></div>
|
||
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|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551856%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551856%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
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<li><a href="/gtr/tests?term=C4551856%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551856%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
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