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<meta name="keywords" content="C1850554, ao2, aoii, atelosteogenesis de la chapelle type, atelosteogenesis ii, atelosteogenesis type 2, atelosteogenesis type ii, atelosteogenesis, type 2, atelosteogenesis, type ii, de 50a chapelle dysplasia, de la chapelle dysplasia, disease or syndrome, neonatal osseous dysplasia 1, neonatal osseous dysplasia i, neonatal osseous dysplasia type 1, slc26a2, 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="Clinical features of SLC26A2-related atelosteogenesis include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with SLC26A2-related diastrophic dysplasia, and long-term survivors have been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=338072
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ConceptID=C1850554
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Atelosteogenesis type II<span class="h1sub">(AO2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338072</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.">C1850554</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>AO2; Atelosteogenesis type 2; Neonatal osseous dysplasia 1; NEONATAL OSSEOUS DYSPLASIA I</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Atelosteogenesis type 2 (254055004); Atelosteogenesis de la Chapelle type (254055004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="SLC26A2 - ID: 1836 - NCBI Gene" href="/gene/1836" class="medgenPMinfo">SLC26A2</a> (5q32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009727" target="_blank">MONDO:0009727</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/256050" target="_blank">256050</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=56304">ORPHA56304</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">
|
||
<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/NBK1317" target="_blank">SLC26A2-Related Atelosteogenesis</a></div><div>Clinical features of SLC26A2-related atelosteogenesis include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with SLC26A2-related diastrophic dysplasia, and long-term survivors have been reported. [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/NBK1317#ao2.Summary" target="NBK1317">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Diagnosis" target="NBK1317">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Clinical_Characteristics" target="NBK1317">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Genetically_Related_Allelic_Disorder" target="NBK1317">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Differential_Diagnosis" target="NBK1317">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Management" target="NBK1317">Management</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Genetic_Counseling" target="NBK1317">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Resources" target="NBK1317">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Molecular_Genetics" target="NBK1317">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.Chapter_Notes" target="NBK1317">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1317#ao2.References" target="NBK1317">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Andrea Superti-Furga | Sheila Unger <a href="/books/NBK1317" target="NBK1317" title="NCBI Bookshelf: SLC26A2-Related Atelosteogenesis">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 MedlinePlus Genetics</strong><br />Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).<br /><br />The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support. <a target="_blank" href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2">https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2</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_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10031"><div><strong>Micromelia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10031</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.">C0025995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormally small extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10031">Feature record</a> | <a href="/medgen?term=%22Micromelia%22%5BClinical%20Features%5D%20OR%2010031%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116086"><div><strong>Limb undergrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116086</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.">C0239399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limb shortening because of underdevelopment of one or more bones of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116086">Feature record</a> | <a href="/medgen?term=%22Limb%20undergrowth%22%5BClinical%20Features%5D%20OR%20116086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_609206"><div><strong>Hitchhiker thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>609206</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.">C0431887</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/609206">Feature record</a> | <a href="/medgen?term=%22Hitchhiker%20thumb%22%5BClinical%20Features%5D%20OR%20609206%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373340"><div><strong>Flat acetabular roof</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373340</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.">C1837485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373340">Feature record</a> | <a href="/medgen?term=%22Flat%20acetabular%20roof%22%5BClinical%20Features%5D%20OR%20373340%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374376"><div><strong>Sandal gap</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374376</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.">C1840069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A widely spaced gap between the first toe (the great toe) and the second toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374376">Feature record</a> | <a href="/medgen?term=%22Sandal%20gap%22%5BClinical%20Features%5D%20OR%20374376%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337690"><div><strong>Short middle phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337690</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.">C1846950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337690">Feature record</a> | <a href="/medgen?term=%22Short%20middle%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20337690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870603"><div><strong>Dumbbell-shaped femur</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870603</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.">C4025052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The femur is shortened and displays flaring (widening) of the metaphyses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870603">Feature record</a> | <a href="/medgen?term=%22Dumbbell-shaped%20femur%22%5BClinical%20Features%5D%20OR%20870603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871080"><div><strong>Bifid humerus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871080</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.">C4025545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clefting affecting the humerus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871080">Feature record</a> | <a href="/medgen?term=%22Bifid%20humerus%22%5BClinical%20Features%5D%20OR%20871080%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107898"><div><strong>Cervical kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107898</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.">C0575170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107898">Feature record</a> | <a href="/medgen?term=%22Cervical%20kyphosis%22%5BClinical%20Features%5D%20OR%20107898%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_263149"><div><strong>Lumbar hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>263149</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.">C1184923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accentuation of the inward curvature of the spine in the lumbar region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/263149">Feature record</a> | <a href="/medgen?term=%22Lumbar%20hyperlordosis%22%5BClinical%20Features%5D%20OR%20263149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_320483"><div><strong>Coronal cleft vertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320483</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.">C1834954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frontal schisis (cleft or cleavage) of vertebral bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320483">Feature record</a> | <a href="/medgen?term=%22Coronal%20cleft%20vertebrae%22%5BClinical%20Features%5D%20OR%20320483%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373339"><div><strong>Thoracic hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373339</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.">C1837482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373339">Feature record</a> | <a href="/medgen?term=%22Thoracic%20hypoplasia%22%5BClinical%20Features%5D%20OR%20373339%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</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.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342531"><div><strong>Horizontal sacrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342531</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.">C1850558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342531">Feature record</a> | <a href="/medgen?term=%22Horizontal%20sacrum%22%5BClinical%20Features%5D%20OR%20342531%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_401058"><div><strong>Short greater sciatic notch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401058</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.">C1866689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401058">Feature record</a> | <a href="/medgen?term=%22Short%20greater%20sciatic%20notch%22%5BClinical%20Features%5D%20OR%20401058%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866545"><div><strong>Abnormal pelvic girdle bone morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866545</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.">C4020847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866545">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pelvic%20girdle%20bone%20morphology%22%5BClinical%20Features%5D%20OR%20866545%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868122"><div><strong>Increased intervertebral space</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868122</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.">C4022513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868122">Feature record</a> | <a href="/medgen?term=%22Increased%20intervertebral%20space%22%5BClinical%20Features%5D%20OR%20868122%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1710079"><div><strong>Lacunar halos around chondrocytes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710079</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.">C5397935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentric rings around the chondrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1710079">Feature record</a> | <a href="/medgen?term=%22Lacunar%20halos%20around%20chondrocytes%22%5BClinical%20Features%5D%20OR%201710079%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_99267"><div><strong>Short neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99267</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.">C0521525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99267">Feature record</a> | <a href="/medgen?term=%22Short%20neck%22%5BClinical%20Features%5D%20OR%2099267%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="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%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_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short neck</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_871080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid humerus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dumbbell-shaped femur</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flat acetabular roof</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_609206" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hitchhiker thumb</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb undergrowth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micromelia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandal gap</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short middle phalanx of finger</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_866545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pelvic girdle bone morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical kyphosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_320483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronal cleft vertebrae</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal sacrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased intervertebral space</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1710079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacunar halos around chondrocytes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_263149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lumbar hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short greater sciatic notch</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracic hypoplasia</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_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></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=C5574658[DISCUI]&test_type=Clinical" ref="ncbi_uid=1806597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1806597" ref="ncbi_uid=1806597">V</a></span></span><span class="TLline"><a href="/medgen/1806597" ref="tree=GTR&ncbi_uid=1806597&link_uid=1806597" title="View MedGen record for 'Atelosteogenesis'">Atelosteogenesis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265283[DISCUI]&test_type=Clinical" ref="ncbi_uid=82701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82701" target="_blank" href="/omim/108720">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK2534/" ref="ncbi_uid=82701">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82701" ref="ncbi_uid=82701">V</a></span></span><span class="TLline"><a href="/medgen/82701" ref="tree=GTR&ncbi_uid=82701&link_uid=82701" title="View MedGen record for 'Atelosteogenesis type I'">Atelosteogenesis type I</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850554[DISCUI]&test_type=Clinical" ref="ncbi_uid=338072">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338072" target="_blank" href="/omim/256050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1317/" ref="ncbi_uid=338072">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338072" ref="ncbi_uid=338072">V</a></span></span><span class="TLline">Atelosteogenesis type II</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3668942[DISCUI]&test_type=Clinical" ref="ncbi_uid=777149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777149" target="_blank" href="/omim/108721">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK2534/" ref="ncbi_uid=777149">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=777149" ref="ncbi_uid=777149">V</a></span></span><span class="TLline"><a href="/medgen/777149" ref="tree=GTR&ncbi_uid=777149&link_uid=777149" title="View MedGen record for 'Atelosteogenesis type III'">Atelosteogenesis type III</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/1806597" ref="tree=MeSH" title="MedGen record for Atelosteogenesis">Atelosteogenesis</a></span><ul><li><span class="matched_ds">Atelosteogenesis type II</span></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/36007841">Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biji IK,
|
||
Yadav S,
|
||
Kulshrestha S,
|
||
Saxena R,
|
||
Kohli S,
|
||
Verma IC,
|
||
Kumar B,
|
||
Puri RD</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104595.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1016/j.ejmg.2022.104595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36007841" target="_blank">36007841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21077202">Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwyer E,
|
||
Hyland J,
|
||
Modaff P,
|
||
Pauli RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Dec;152A(12):3043-50.
|
||
doi: 10.1002/ajmg.a.33736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21077202" target="_blank">21077202</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22atelosteogenesis%20type%20ii%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/21985323">Atelosteogenesis type I: autopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessels A,
|
||
Wainwright HC,
|
||
Beighton P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2011 Nov-Dec;14(6):496-500.
|
||
Epub 2011 Oct 10
|
||
doi: 10.2350/11-01-0969-CR.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21985323" target="_blank">21985323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18553123">A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyake A,
|
||
Nishimura G,
|
||
Futami T,
|
||
Ohashi H,
|
||
Chiba K,
|
||
Toyama Y,
|
||
Furuichi T,
|
||
Ikegawa S</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2008;53(8):764-768.
|
||
Epub 2008 Jun 14
|
||
doi: 10.1007/s10038-008-0305-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18553123" target="_blank">18553123</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15316973">Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Macías-Gómez NM,
|
||
Mégarbané A,
|
||
Leal-Ugarte E,
|
||
Rodríguez-Rojas LX,
|
||
Barros-Núñez P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2004 Aug 30;129A(2):190-2.
|
||
doi: 10.1002/ajmg.a.30149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15316973" target="_blank">15316973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9843047">Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodie SG,
|
||
Lachman RS,
|
||
Crandall BF,
|
||
Fox MA,
|
||
Rimoin DL,
|
||
Cohn DH,
|
||
Wilcox WR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Nov 16;80(3):247-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9843047" target="_blank">9843047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9133349">Atelosteogenesis syndromes: a review, with comments on their pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sillence D,
|
||
Worthington S,
|
||
Dixon J,
|
||
Osborn R,
|
||
Kozlowski K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1997 May;27(5):388-96.
|
||
doi: 10.1007/s002470050154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9133349" target="_blank">9133349</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atelosteogenesis%20type%20II%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36007841">Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biji IK,
|
||
Yadav S,
|
||
Kulshrestha S,
|
||
Saxena R,
|
||
Kohli S,
|
||
Verma IC,
|
||
Kumar B,
|
||
Puri RD</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104595.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1016/j.ejmg.2022.104595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36007841" target="_blank">36007841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23840040">A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zechi-Ceide RM,
|
||
Moura PP,
|
||
Raskin S,
|
||
Richieri-Costa A,
|
||
Guion-Almeida ML</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 Aug;161A(8):2088-94.
|
||
Epub 2013 Jul 9
|
||
doi: 10.1002/ajmg.a.36057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23840040" target="_blank">23840040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21985323">Atelosteogenesis type I: autopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessels A,
|
||
Wainwright HC,
|
||
Beighton P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2011 Nov-Dec;14(6):496-500.
|
||
Epub 2011 Oct 10
|
||
doi: 10.2350/11-01-0969-CR.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21985323" target="_blank">21985323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18716767">Fetal MR imaging of atelosteogenesis type II (AO-II).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller E,
|
||
Blaser S,
|
||
Miller S,
|
||
Keating S,
|
||
Thompson M,
|
||
Unger S,
|
||
Toi A,
|
||
Berger H,
|
||
Chong K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2008 Dec;38(12):1345-9.
|
||
Epub 2008 Aug 21
|
||
doi: 10.1007/s00247-008-0974-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18716767" target="_blank">18716767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7632220">De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schrander-Stumpel C,
|
||
Havenith M,
|
||
Linden EV,
|
||
Maertzdorf W,
|
||
Offermans J,
|
||
van der Harten J</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1994 Oct;3(4):318-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7632220" target="_blank">7632220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atelosteogenesis%20type%20II%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36007841">Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biji IK,
|
||
Yadav S,
|
||
Kulshrestha S,
|
||
Saxena R,
|
||
Kohli S,
|
||
Verma IC,
|
||
Kumar B,
|
||
Puri RD</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104595.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1016/j.ejmg.2022.104595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36007841" target="_blank">36007841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21985323">Atelosteogenesis type I: autopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessels A,
|
||
Wainwright HC,
|
||
Beighton P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2011 Nov-Dec;14(6):496-500.
|
||
Epub 2011 Oct 10
|
||
doi: 10.2350/11-01-0969-CR.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21985323" target="_blank">21985323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21077202">Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwyer E,
|
||
Hyland J,
|
||
Modaff P,
|
||
Pauli RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Dec;152A(12):3043-50.
|
||
doi: 10.1002/ajmg.a.33736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21077202" target="_blank">21077202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8571951">Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hästbacka J,
|
||
Superti-Furga A,
|
||
Wilcox WR,
|
||
Rimoin DL,
|
||
Cohn DH,
|
||
Lander ES</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Feb;58(2):255-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8571951" target="_blank">8571951</a><a href="/pmc/articles/PMC1914552" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7632220">De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schrander-Stumpel C,
|
||
Havenith M,
|
||
Linden EV,
|
||
Maertzdorf W,
|
||
Offermans J,
|
||
van der Harten J</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1994 Oct;3(4):318-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7632220" target="_blank">7632220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atelosteogenesis%20type%20II%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36007841">Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biji IK,
|
||
Yadav S,
|
||
Kulshrestha S,
|
||
Saxena R,
|
||
Kohli S,
|
||
Verma IC,
|
||
Kumar B,
|
||
Puri RD</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104595.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1016/j.ejmg.2022.104595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36007841" target="_blank">36007841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21985323">Atelosteogenesis type I: autopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessels A,
|
||
Wainwright HC,
|
||
Beighton P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2011 Nov-Dec;14(6):496-500.
|
||
Epub 2011 Oct 10
|
||
doi: 10.2350/11-01-0969-CR.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21985323" target="_blank">21985323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21077202">Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwyer E,
|
||
Hyland J,
|
||
Modaff P,
|
||
Pauli RM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Dec;152A(12):3043-50.
|
||
doi: 10.1002/ajmg.a.33736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21077202" target="_blank">21077202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9133349">Atelosteogenesis syndromes: a review, with comments on their pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sillence D,
|
||
Worthington S,
|
||
Dixon J,
|
||
Osborn R,
|
||
Kozlowski K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1997 May;27(5):388-96.
|
||
doi: 10.1007/s002470050154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9133349" target="_blank">9133349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8571951">Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hästbacka J,
|
||
Superti-Furga A,
|
||
Wilcox WR,
|
||
Rimoin DL,
|
||
Cohn DH,
|
||
Lander ES</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Feb;58(2):255-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8571951" target="_blank">8571951</a><a href="/pmc/articles/PMC1914552" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atelosteogenesis%20type%20II%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1850554%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850554%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850554%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850554%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850554%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (62)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850554%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (23)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1850554%5bDISCUI%5d" target="_blank">See all (67)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=256050" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=56304" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Atelosteogenesis%20type%20II" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22atelosteogenesis%20type%20ii%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606718" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1836[geneid]" target="_blank">View SLC26A2 variations in ClinVar</a></li><li><a href="/nuccore/166064008" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=256050" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Atelosteogenesis+Type+2/641" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/atelosteogenesis_type_ii" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Atelosteogenesis%20type%20II" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8329/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=338072" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=338072" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2d2bc67c23b31e0c5b925">Atelosteogenesis type II</a>
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