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<!--
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||
UID=867424
|
||
ConceptID=C4021797
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal thorax morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867424</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.">C4021797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the thorax</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000765">HP:0000765</a></td></tr>
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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>
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||
<div class="portlet_content ln">Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021797[DISCUI]&test_type=Clinical" ref="ncbi_uid=867424">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=867424" ref="ncbi_uid=867424">V</a></span></span><span class="TLline">Abnormal thorax morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="matched_ds">Abnormal thorax morphology</span><ul><li><span class="TLline"><a href="/medgen/867420" ref="tree=MeSH" title="MedGen record for Abnormal clavicle morphology">Abnormal clavicle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/98091" ref="tree=MeSH" title="MedGen record for Broad clavicles">Broad clavicles</a></span></li><li><span class="TLline"><a href="/medgen/1814348" ref="tree=MeSH" title="MedGen record for Clavicular pseudarthrosis">Clavicular pseudarthrosis</a></span></li><li><span class="TLline"><a href="/medgen/1864257" ref="tree=MeSH" title="MedGen record for Delayed ossification of the clavicle">Delayed ossification of the clavicle</a></span></li><li><span class="TLline"><a href="/medgen/98426" ref="tree=MeSH" title="MedGen record for Lateral clavicle hook">Lateral clavicle hook</a></span></li><li><span class="TLline"><a href="/medgen/96530" ref="tree=MeSH" title="MedGen record for Long clavicles">Long clavicles</a></span></li><li><span class="TLline"><a href="/medgen/357121" ref="tree=MeSH" title="MedGen record for Medial widening of clavicles">Medial widening of clavicles</a></span></li><li><span class="TLline"><a href="/medgen/870568" ref="tree=MeSH" title="MedGen record for Straight clavicles">Straight clavicles</a></span></li><li><span class="TLline"><a href="/medgen/1054731" ref="tree=MeSH" title="MedGen record for Thickened cortex of the clavicle">Thickened cortex of the clavicle</a></span></li><li><span class="TLline"><a href="/medgen/659167" ref="tree=MeSH" title="MedGen record for Thin clavicles">Thin clavicles</a></span><ul><li><span class="TLline"><a href="/medgen/1814195" ref="tree=MeSH" title="MedGen record for Distal clavicular thinning">Distal clavicular thinning</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866897" ref="tree=MeSH" title="MedGen record for Undulate clavicles">Undulate clavicles</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871275" ref="tree=MeSH" title="MedGen record for Abnormal rib cage morphology">Abnormal rib cage morphology</a></span><ul><li><span class="TLline"><a href="/medgen/348379" ref="tree=MeSH" title="MedGen record for Abnormal facility in opposing the shoulders">Abnormal facility in opposing the shoulders</a></span></li><li><span class="TLline"><a href="/medgen/330763" ref="tree=MeSH" title="MedGen record for Abnormal rib morphology">Abnormal rib morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867419" ref="tree=MeSH" title="MedGen record for Abnormality of the costochondral junction">Abnormality of the costochondral junction</a></span></li><li><span class="TLline"><a href="/medgen/349346" ref="tree=MeSH" title="MedGen record for Anomalous rib insertion to vertebrae">Anomalous rib insertion to vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/1648338" ref="tree=MeSH" title="MedGen record for Bifid ribs">Bifid ribs</a></span></li><li><span class="TLline"><a href="/medgen/336390" ref="tree=MeSH" title="MedGen record for Broad ribs">Broad ribs</a></span></li><li><span class="TLline"><a href="/medgen/870562" ref="tree=MeSH" title="MedGen record for Coat hanger sign of ribs">Coat hanger sign of ribs</a></span></li><li><span class="TLline"><a href="/medgen/1864239" ref="tree=MeSH" title="MedGen record for Crescent-shaped iliac bone">Crescent-shaped iliac bone</a></span></li><li><span class="TLline"><a href="/medgen/351284" ref="tree=MeSH" title="MedGen record for Cupped ribs">Cupped ribs</a></span></li><li><span class="TLline"><a href="/medgen/381496" ref="tree=MeSH" title="MedGen record for Flaring of rib cage">Flaring of rib cage</a></span></li><li><span class="TLline"><a href="/medgen/812840" ref="tree=MeSH" title="MedGen record for Horizontal ribs">Horizontal ribs</a></span></li><li><span class="TLline"><a href="/medgen/75784" ref="tree=MeSH" title="MedGen record for Multiple rib fractures">Multiple rib fractures</a></span></li><li><span class="TLline"><a href="/medgen/870564" ref="tree=MeSH" title="MedGen record for Prominent floating ribs">Prominent floating ribs</a></span></li><li><span class="TLline"><a href="/medgen/78570" ref="tree=MeSH" title="MedGen record for Rib fusion">Rib fusion</a></span></li><li><span class="TLline"><a href="/medgen/605200" ref="tree=MeSH" title="MedGen record for Rib gap">Rib gap</a></span></li><li><span class="TLline"><a href="/medgen/369388" ref="tree=MeSH" title="MedGen record for Rib segmentation abnormalities">Rib segmentation abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/1863583" ref="tree=MeSH" title="MedGen record for Rib spur">Rib spur</a></span></li><li><span class="TLline"><a href="/medgen/870675" ref="tree=MeSH" title="MedGen record for Superior rib anomalies">Superior rib anomalies</a></span></li><li><span class="TLline"><a href="/medgen/98096" ref="tree=MeSH" title="MedGen record for Thickened ribs">Thickened ribs</a></span></li><li><span class="TLline"><a href="/medgen/98095" ref="tree=MeSH" title="MedGen record for Thin ribs">Thin ribs</a></span></li><li><span class="TLline"><a href="/medgen/409776" ref="tree=MeSH" title="MedGen record for Undulate ribs">Undulate ribs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387970" ref="tree=MeSH" title="MedGen record for Asymmetry of the thorax">Asymmetry of the thorax</a></span></li><li><span class="TLline"><a href="/medgen/351320" ref="tree=MeSH" title="MedGen record for Bell-shaped thorax">Bell-shaped thorax</a></span></li><li><span class="TLline"><a href="/medgen/374021" ref="tree=MeSH" title="MedGen record for Deformed rib cage">Deformed rib cage</a></span></li><li><span class="TLline"><a href="/medgen/866616" ref="tree=MeSH" title="MedGen record for Enlarged thorax">Enlarged thorax</a></span><ul><li><span class="TLline"><a href="/medgen/120497" ref="tree=MeSH" title="MedGen record for Barrel-shaped chest">Barrel-shaped chest</a></span></li><li><span class="TLline"><a href="/medgen/336414" ref="tree=MeSH" title="MedGen record for Increased anterioposterior diameter of thorax">Increased anterioposterior diameter of thorax</a></span></li><li><span class="TLline"><a href="/medgen/108393" ref="tree=MeSH" title="MedGen record for Long thorax">Long thorax</a></span></li><li><span class="TLline"><a href="/medgen/322348" ref="tree=MeSH" title="MedGen record for Shield chest">Shield chest</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870567" ref="tree=MeSH" title="MedGen record for Restricted chest movement">Restricted chest movement</a></span></li><li><span class="TLline"><a href="/medgen/538364" ref="tree=MeSH" title="MedGen record for Thoracic cage flatness">Thoracic cage flatness</a></span></li><li><span class="TLline"><a href="/medgen/853272" ref="tree=MeSH" title="MedGen record for Thoracic dysplasia">Thoracic dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871337" ref="tree=MeSH" title="MedGen record for Abnormal scapula morphology">Abnormal scapula morphology</a></span><ul><li><span class="TLline"><a href="/medgen/56291" ref="tree=MeSH" title="MedGen record for Congenital elevation of scapula">Congenital elevation of scapula</a></span></li><li><span class="TLline"><a href="/medgen/812841" ref="tree=MeSH" title="MedGen record for Horizontal inferior border of scapula">Horizontal inferior border of scapula</a></span></li><li><span class="TLline"><a href="/medgen/860402" ref="tree=MeSH" title="MedGen record for Omovertebral bone">Omovertebral bone</a></span></li><li><span class="TLline"><a href="/medgen/322404" ref="tree=MeSH" title="MedGen record for Thickening of the lateral border of the scapula">Thickening of the lateral border of the scapula</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349830" ref="tree=MeSH" title="MedGen record for Abnormal sternum morphology">Abnormal sternum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867560" ref="tree=MeSH" title="MedGen record for Abnormality of the xiphoid process">Abnormality of the xiphoid process</a></span><ul><li><span class="TLline"><a href="/medgen/866597" ref="tree=MeSH" title="MedGen record for Bifid xiphoid process">Bifid xiphoid process</a></span></li><li><span class="TLline"><a href="/medgen/866556" ref="tree=MeSH" title="MedGen record for Broad xiphoid process">Broad xiphoid process</a></span></li><li><span class="TLline"><a href="/medgen/866596" ref="tree=MeSH" title="MedGen record for Prominent xiphoid process">Prominent xiphoid process</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/536816" ref="tree=MeSH" title="MedGen record for Fractured sternum">Fractured sternum</a></span></li><li><span class="TLline"><a href="/medgen/57643" ref="tree=MeSH" title="MedGen record for Pectus carinatum">Pectus carinatum</a></span><ul><li><span class="TLline"><a href="/medgen/351219" ref="tree=MeSH" title="MedGen record for Superior pectus carinatum">Superior pectus carinatum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/781174" ref="tree=MeSH" title="MedGen record for Pectus excavatum">Pectus excavatum</a></span><ul><li><span class="TLline"><a href="/medgen/400614" ref="tree=MeSH" title="MedGen record for Pectus excavatum of inferior sternum">Pectus excavatum of inferior sternum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/337578" ref="tree=MeSH" title="MedGen record for Prominent sternum">Prominent sternum</a></span></li><li><span class="TLline"><a href="/medgen/419096" ref="tree=MeSH" title="MedGen record for Sternal cleft">Sternal cleft</a></span></li><li><span class="TLline"><a href="/medgen/336206" ref="tree=MeSH" title="MedGen record for Sternal pit">Sternal pit</a></span></li><li><span class="TLline"><a href="/medgen/1615232" ref="tree=MeSH" title="MedGen record for Supraumbilical raphe">Supraumbilical raphe</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140876" ref="tree=MeSH" title="MedGen record for Short thorax">Short thorax</a></span></li><li><span class="TLline"><a href="/medgen/373339" ref="tree=MeSH" title="MedGen record for Thoracic hypoplasia">Thoracic hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/870563" ref="tree=MeSH" title="MedGen record for Congenital microthorax">Congenital microthorax</a></span></li><li><span class="TLline"><a href="/medgen/96528" ref="tree=MeSH" title="MedGen record for Narrow chest">Narrow chest</a></span></li><li><span class="TLline"><a href="/medgen/335217" ref="tree=MeSH" title="MedGen record for Unilateral chest hypoplasia">Unilateral chest hypoplasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_82704"><div><strong>Pyle metaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82704</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.">C0265294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82704">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120564"><div><strong>Supernumerary nipple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120564</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.">C0266011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Presence of more than two nipples.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120564">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_79381"><div><strong>Chondrodysplasia punctata 2 X-linked dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79381</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.">C0282102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/79381">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140798"><div><strong>Familial juvenile hypertrophy of the breast</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140798</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.">C0405471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140798">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_163214"><div><strong>Oculocerebrocutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163214</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.">C0796092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163214">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_203367"><div><strong>Sialic acid storage disease, severe infantile type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>203367</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.">C1096902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/203367">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_226997"><div><strong>Congenital fascial dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226997</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.">C1302740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/226997">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_316973"><div><strong>Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316973</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.">C1832362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/316973">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331604"><div><strong>Ophthalmomandibulomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331604</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.">C1833872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331604">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326697"><div><strong>Ichthyosis-cheek-eyebrow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326697</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.">C1840283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326697">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344338"><div><strong>Lethal congenital contracture syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344338</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.">C1854664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344338">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_348040"><div><strong>Short-limb skeletal dysplasia with severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348040</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.">C1860168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/348040">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400262"><div><strong>Acropectorovertebral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400262</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.">C1863307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400262">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_419753"><div><strong>Craniometaphyseal dysplasia, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419753</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.">C2931244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419753">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_424833"><div><strong>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424833</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.">C2936858</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/424833">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_483347"><div><strong>Hiatus hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483347</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.">C3489393</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.</div></div>
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<div class="divPopper rprt" id="rdis_777088"><div><strong>Galactorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777088</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.">C3665358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Excessive secretion of breast milk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/777088">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acropectorovertebral dysplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_79381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia punctata 2 X-linked dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital fascial dystrophy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometaphyseal dysplasia, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial juvenile hypertrophy of the breast</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_777088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galactorrhea</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hiatus hernia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis-cheek-eyebrow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocerebrocutaneous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmomandibulomelic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyle metaphyseal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-limb skeletal dysplasia with severe combined immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_203367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sialic acid storage disease, severe infantile type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supernumerary nipple</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
|
||
Marcos-Grañeda E,
|
||
Weiss LA,
|
||
Gurnett CA,
|
||
Jelsig AM,
|
||
Vineke SH,
|
||
Isidor B,
|
||
Mercier S,
|
||
Magnussen K,
|
||
Zacher P,
|
||
Hashim M,
|
||
Pagnamenta AT,
|
||
Race S,
|
||
Srivastava S,
|
||
Frazier Z,
|
||
Maiwald R,
|
||
Pergande M,
|
||
Milani D,
|
||
Rinelli M,
|
||
Levy J,
|
||
Krey I,
|
||
Fontana P,
|
||
Lonardo F,
|
||
Riley S,
|
||
Kretzer J,
|
||
Rankin J,
|
||
Reis LM,
|
||
Semina EV,
|
||
Reuter MS,
|
||
Scherer SW,
|
||
Iascone M,
|
||
Weis D,
|
||
Fagerberg CR,
|
||
Brasch-Andersen C,
|
||
Hansen LK,
|
||
Kuechler A,
|
||
Noble N,
|
||
Gardham A,
|
||
Tenney J,
|
||
Rathore G,
|
||
Beck-Woedl S,
|
||
Haack TB,
|
||
Pavlidou DC,
|
||
Atallah I,
|
||
Vodopiutz J,
|
||
Janecke AR,
|
||
Hsieh TC,
|
||
Lesmann H,
|
||
Klinkhammer H,
|
||
Krawitz PM,
|
||
Lemke JR,
|
||
Jamra RA,
|
||
Nieto M,
|
||
Tümer Z,
|
||
Platzer K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Nov;31(11):1251-1260.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1038/s41431-023-01445-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18634118">Anomalies of the fetal thorax and abdomen: diagnosis, management and outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson RD,
|
||
Chitty LS</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2008 Jul;28(7):567.
|
||
doi: 10.1002/pd.2042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18634118" target="_blank">18634118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12961108">Ultrafast fetal MRI and prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hubbard AM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2003 Aug;12(3):143-53.
|
||
doi: 10.1016/s1055-8586(03)00031-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12961108" target="_blank">12961108</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20thorax%20morphology)%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 (84)</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/33184831">Fetal upper mediastinum - normal and abnormal findings in obstetric ultrasound screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojtowicz A,
|
||
Huras H</span><br />
|
||
<span class="medgenPMjournal">Ginekol Pol</span>
|
||
2020;91(10):620-628.
|
||
doi: 10.5603/GP.a2020.0092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33184831" target="_blank">33184831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31676044">Prediction tools in congenital diaphragmatic hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jancelewicz T,
|
||
Brindle ME</span><br />
|
||
<span class="medgenPMjournal">Semin Perinatol</span>
|
||
2020 Feb;44(1):151165.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1053/j.semperi.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31676044" target="_blank">31676044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30383585">An Evidence-Based Approach to Management of Pectus Excavatum and Carinatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buziashvili D,
|
||
Gopman JM,
|
||
Weissler H,
|
||
Bodenstein L,
|
||
Kaufman AJ,
|
||
Taub PJ</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2019 Mar;82(3):352-358.
|
||
doi: 10.1097/SAP.0000000000001654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30383585" target="_blank">30383585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28129068">ITMIG Classification of Mediastinal Compartments and Multidisciplinary Approach to Mediastinal Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter BW,
|
||
Benveniste MF,
|
||
Madan R,
|
||
Godoy MC,
|
||
de Groot PM,
|
||
Truong MT,
|
||
Rosado-de-Christenson ML,
|
||
Marom EM</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2017 Mar-Apr;37(2):413-436.
|
||
Epub 2017 Jan 27
|
||
doi: 10.1148/rg.2017160095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28129068" target="_blank">28129068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23657247">Pectus carinatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desmarais TJ,
|
||
Keller MS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2013 Jun;25(3):375-81.
|
||
doi: 10.1097/MOP.0b013e3283604088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23657247" target="_blank">23657247</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thorax%20morphology%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 (859)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22595715">Chest wall deformities in pediatric surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obermeyer RJ,
|
||
Goretsky MJ</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2012 Jun;92(3):669-84, ix.
|
||
Epub 2012 Apr 17
|
||
doi: 10.1016/j.suc.2012.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22595715" target="_blank">22595715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15619190">Pectus excavatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huddleston CB</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
|
||
2004 Fall;16(3):225-32.
|
||
doi: 10.1053/j.semtcvs.2004.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15619190" target="_blank">15619190</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 class="nl"><a target="_blank" href="/pubmed/2130840">Thoraco-amniotic shunting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolaides KH,
|
||
Azar GB</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
1990;5(3-4):153-64.
|
||
doi: 10.1159/000263586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2130840" target="_blank">2130840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/442315">Intrathoracic kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramos AJ,
|
||
Slovis TL,
|
||
Reed JO</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
1979 Jan;13(1):14-9.
|
||
doi: 10.1016/0090-4295(79)90005-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/442315" target="_blank">442315</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thorax%20morphology%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 (1483)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38195644">Radiomics analysis to predict pulmonary nodule malignancy using machine learning approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warkentin MT,
|
||
Al-Sawaihey H,
|
||
Lam S,
|
||
Liu G,
|
||
Diergaarde B,
|
||
Yuan JM,
|
||
Wilson DO,
|
||
Atkar-Khattra S,
|
||
Grant B,
|
||
Brhane Y,
|
||
Khodayari-Moez E,
|
||
Murison KR,
|
||
Tammemagi MC,
|
||
Campbell KR,
|
||
Hung RJ</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2024 Mar 15;79(4):307-315.
|
||
doi: 10.1136/thorax-2023-220226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38195644" target="_blank">38195644</a><a href="/pmc/articles/PMC10947877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31164915">Esophageal emergencies: WSES guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chirica M,
|
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|
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<div class="portlet_content ln"><span class="medgenPMauthor">Luo F,
|
||
Annane D,
|
||
Orlikowski D,
|
||
He L,
|
||
Yang M,
|
||
Zhou M,
|
||
Liu GJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Dec 4;12(12):CD008380.
|
||
doi: 10.1002/14651858.CD008380.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29199768" target="_blank">29199768</a><a href="/pmc/articles/PMC6486162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20085507">Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: a systematic review and meta-analysis of diagnostic studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knox E,
|
||
Lissauer D,
|
||
Khan K,
|
||
Kilby M</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2010 Jul;23(7):579-88.
|
||
doi: 10.3109/14767050903551400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20085507" target="_blank">20085507</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thorax%20morphology%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021797%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
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