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<meta name="keywords" content="C1860493, abnormal sternum morphology, abnormality of the sternum, anatomical abnormality, finding, pectus carinatum or pectus excavatum, pectus deformities, pectus deformity, pectus excavatum or carinatum, pectus excavatum or pectus carinatum, pectus excavatum/carinatum, sternal anomalies, 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="An anomaly of the sternum, also known as the breastbone." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=349830
|
||
ConceptID=C1860493
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal sternum morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349830</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1860493</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the sternum</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:0000766">HP:0000766</a></td></tr>
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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">An anomaly of the sternum, also known as the breastbone. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet 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=C1860493[DISCUI]&test_type=Clinical" ref="ncbi_uid=349830">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=349830" ref="ncbi_uid=349830">V</a></span></span><span class="TLline">Abnormal sternum 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="TLline"><a href="/medgen/867424" ref="tree=MeSH" title="MedGen record for Abnormal thorax morphology">Abnormal thorax morphology</a></span><ul><li><span class="matched_ds">Abnormal sternum morphology</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></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_2554"><div><strong>Gorlin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</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.">C0004779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163206"><div><strong>Marden-Walker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163206</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.">C0796033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Marden-Walker syndrome (MWKS) is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by Schrander-Stumpel et al., 1993). There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163206">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339908"><div><strong>Noonan syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339908</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.">C1853120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339908">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344290"><div><strong>Noonan syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344290</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.">C1854469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357280"><div><strong>Pseudoxanthoma elasticum, forme fruste</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357280</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.">C1867450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357280">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370588"><div><strong>LEOPARD syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370588</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.">C1969056</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370588">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370589"><div><strong>Noonan syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370589</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.">C1969057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370589">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382398"><div><strong>Loeys-Dietz syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382398</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.">C2674574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382398">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413028"><div><strong>Noonan syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413028</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.">C2750732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462437"><div><strong>Aneurysm-osteoarthritis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462437</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.">C3151087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766676"><div><strong>Loeys-Dietz syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766676</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.">C3553762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815563"><div><strong>Noonan syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815563</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.">C3809233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906646"><div><strong>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906646</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.">C4225222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906646">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934778"><div><strong>Meester-Loeys syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934778</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.">C4310811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia (Meester et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934778">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1379805"><div><strong>Noonan syndrome-like disorder with loose anagen hair 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379805</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.">C4478716</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Reviews Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients. Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1379805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1624392"><div><strong>Fibromatosis, gingival, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624392</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.">C4539942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gingival fibromatosis-5 (GINGF5) is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 (135300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1624392">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638960"><div><strong>Noonan syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638960</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.">C4551602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646567"><div><strong>Loeys-Dietz syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646567</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.">C4551955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646567">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1674537"><div><strong>Oculocerebrodental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674537</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.">C5193101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1674537">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794251"><div><strong>Loeys-Dietz syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794251</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.">C5562041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794251">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aneurysm-osteoarthritis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1624392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibromatosis, gingival, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorlin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370588" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LEOPARD syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163206" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marden-Walker syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934778" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meester-Loeys syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome-like disorder with loose anagen hair 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocerebrodental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudoxanthoma elasticum, forme fruste</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</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/38964837">The pectus care guidelines: best practice consensus guidelines from the joint specialist societies SCTS/MF/CWIG/BOA/BAPS for the treatment of patients with pectus abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunning J (UK),
|
||
Burdett C (UK),
|
||
Child A (UK),
|
||
Davies C (UK),
|
||
Eastwood D (UK),
|
||
Goodacre T (UK),
|
||
Haecker FM,
|
||
Kendall S (UK),
|
||
Kolvekar S (UK),
|
||
MacMahon L (USA),
|
||
Marven S (UK),
|
||
Murray S (UK),
|
||
Naidu B (UK),
|
||
Pandya B (UK),
|
||
Redmond K (UK),
|
||
Coonar A (UK)</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2024 Jul 1;66(1)
|
||
doi: 10.1093/ejcts/ezae166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38964837" target="_blank">38964837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33998075">Prenatal diagnosis of ascending aortic aneurysm associated with sternal cleft.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu J,
|
||
Tse WT,
|
||
Law KM,
|
||
Leung TY</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 Feb;59(2):267-268.
|
||
doi: 10.1002/uog.23687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33998075" target="_blank">33998075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7031930">Diagnosis and operative management of chest wall deformities in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haller JA Jr,
|
||
Turner CS</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1981 Oct;61(5):1199-207.
|
||
doi: 10.1016/s0039-6109(16)42541-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7031930" target="_blank">7031930</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20sternum%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 (22)</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/38602580">Sternal cleft and pectus excavatum: an overlooked congenital association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piro L,
|
||
Lena F,
|
||
Roggero A,
|
||
Stagnaro N,
|
||
Mattioli G,
|
||
Torre M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2024 Apr 11;40(1):105.
|
||
doi: 10.1007/s00383-024-05686-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38602580" target="_blank">38602580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36218295">Primary closure of a sternal cleft in the neonatal period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rombaldi MC,
|
||
Barreto CG,
|
||
Neto WFS,
|
||
Penso C,
|
||
Holanda FC,
|
||
Corso A,
|
||
Isolan PMBS,
|
||
Fraga JC</span><br />
|
||
<span class="medgenPMjournal">Multimed Man Cardiothorac Surg</span>
|
||
2022 Jun 8;2022
|
||
doi: 10.1510/mmcts.2022.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36218295" target="_blank">36218295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326735">Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luu K,
|
||
Valenzuela D,
|
||
Chadha NK,
|
||
Moxham P</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2019 Oct;125:175-181.
|
||
Epub 2019 Jul 15
|
||
doi: 10.1016/j.ijporl.2019.07.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326735" target="_blank">31326735</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 class="nl"><a target="_blank" href="/pubmed/12728394">Recurrent chest wall anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombani PM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2003 May;12(2):94-9.
|
||
doi: 10.1016/s1055-8586(02)00018-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12728394" target="_blank">12728394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20sternum%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 (238)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944483">Pectus Disorders: Excavatum, Carinatum and Arcuatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notrica DM,
|
||
McMahon LE,
|
||
Jaroszewski DE</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2024 Aug;71(1):181-194.
|
||
doi: 10.1016/j.yapd.2024.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944483" target="_blank">38944483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326735">Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luu K,
|
||
Valenzuela D,
|
||
Chadha NK,
|
||
Moxham P</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2019 Oct;125:175-181.
|
||
Epub 2019 Jul 15
|
||
doi: 10.1016/j.ijporl.2019.07.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326735" target="_blank">31326735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28363367">Straight Back Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright CD</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2017 May;27(2):133-137.
|
||
doi: 10.1016/j.thorsurg.2017.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28363367" target="_blank">28363367</a></div>
|
||
|
||
<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/12728394">Recurrent chest wall anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombani PM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2003 May;12(2):94-9.
|
||
doi: 10.1016/s1055-8586(02)00018-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12728394" target="_blank">12728394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20sternum%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 (307)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33478832">Minimally invasive repair of pectus excavatum by the Nuss procedure: The learning curve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Loos ER,
|
||
Daemen JHT,
|
||
Pennings AJ,
|
||
Heuts S,
|
||
Maessen JG,
|
||
Hulsewé KWE,
|
||
Vissers YLJ</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Mar;163(3):828-837.e4.
|
||
Epub 2020 Dec 10
|
||
doi: 10.1016/j.jtcvs.2020.11.154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33478832" target="_blank">33478832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31003586">Pectus excavatum repair using bridge fixation system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinh VH,
|
||
Khanh HQ,
|
||
Binh NH,
|
||
Khoi NV</span><br />
|
||
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
|
||
2019 Jun;27(5):374-380.
|
||
Epub 2019 Apr 19
|
||
doi: 10.1177/0218492319846733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31003586" target="_blank">31003586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27422007">Fetal Valproate Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu-Albayrak H,
|
||
Bulut C,
|
||
Çaksen H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neonatol</span>
|
||
2017 Apr;58(2):158-164.
|
||
Epub 2016 Jun 17
|
||
doi: 10.1016/j.pedneo.2016.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27422007" target="_blank">27422007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26422553">Previously Complicated Nuss Procedure Does Not Preclude Blind Removal of the Bar.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilgi Z,
|
||
Ermerak NO,
|
||
Laçin T,
|
||
Bostancı K,
|
||
Yüksel M</span><br />
|
||
<span class="medgenPMjournal">Thorac Cardiovasc Surg</span>
|
||
2016 Jan;64(1):83-6.
|
||
Epub 2015 Sep 30
|
||
doi: 10.1055/s-0035-1564690.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26422553" target="_blank">26422553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18063606">Thymoma accompanied by lichen planus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayashi A,
|
||
Shiono H,
|
||
Okumura M</span><br />
|
||
<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
|
||
2008 Apr;7(2):347-8.
|
||
Epub 2007 Dec 6
|
||
doi: 10.1510/icvts.2007.164178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18063606" target="_blank">18063606</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20sternum%20morphology%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (89)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39401669">Aortic aneurysm: Correlations with phenotypes associated with connective tissue dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roslik M,
|
||
Zharikov Y,
|
||
Vovkogon A,
|
||
Zharova N,
|
||
Pontes-Silva A,
|
||
Zharikova T</span><br />
|
||
<span class="medgenPMjournal">Microvasc Res</span>
|
||
2025 Jan;157:104754.
|
||
Epub 2024 Oct 12
|
||
doi: 10.1016/j.mvr.2024.104754.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39401669" target="_blank">39401669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35675973">Endovascular Repair of an Intrathoracic Subclavian Artery Aneurysm in a Patient With Dextrocardia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motaganahalli AR,
|
||
Wang SK,
|
||
Sawchuk AP</span><br />
|
||
<span class="medgenPMjournal">Vasc Endovascular Surg</span>
|
||
2023 Jan;57(1):69-74.
|
||
Epub 2022 Jun 8
|
||
doi: 10.1177/15385744221108045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35675973" target="_blank">35675973</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/18651971">Alpha-mannosidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malm D,
|
||
Nilssen Ø</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Jul 23;3:21.
|
||
doi: 10.1186/1750-1172-3-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18651971" target="_blank">18651971</a><a href="/pmc/articles/PMC2515294" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14530101">Pectus carinatum: the undertreated chest malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fonkalsrud EW</span><br />
|
||
<span class="medgenPMjournal">Asian J Surg</span>
|
||
2003 Oct;26(4):189-92.
|
||
doi: 10.1016/S1015-9584(09)60300-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14530101" target="_blank">14530101</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20sternum%20morphology%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 (162)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38602580">Sternal cleft and pectus excavatum: an overlooked congenital association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piro L,
|
||
Lena F,
|
||
Roggero A,
|
||
Stagnaro N,
|
||
Mattioli G,
|
||
Torre M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2024 Apr 11;40(1):105.
|
||
doi: 10.1007/s00383-024-05686-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38602580" target="_blank">38602580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33478832">Minimally invasive repair of pectus excavatum by the Nuss procedure: The learning curve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Loos ER,
|
||
Daemen JHT,
|
||
Pennings AJ,
|
||
Heuts S,
|
||
Maessen JG,
|
||
Hulsewé KWE,
|
||
Vissers YLJ</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Mar;163(3):828-837.e4.
|
||
Epub 2020 Dec 10
|
||
doi: 10.1016/j.jtcvs.2020.11.154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33478832" target="_blank">33478832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642414">Isolated central sterna clefts: A rare congenital malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laamiri R,
|
||
Kechiche N,
|
||
Hmidi N,
|
||
Sahnoun L,
|
||
Mekki M,
|
||
Belghith M,
|
||
Ksia A,
|
||
Nouri A</span><br />
|
||
<span class="medgenPMjournal">Afr J Paediatr Surg</span>
|
||
2021 Apr-Jun;18(2):117-118.
|
||
doi: 10.4103/ajps.AJPS_47_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642414" target="_blank">33642414</a><a href="/pmc/articles/PMC8232357" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15276489">Repair of the pectus deformity: results of the Ravitch approach in the current era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis JT,
|
||
Weinstein S</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2004 Aug;78(2):421-6.
|
||
doi: 10.1016/j.athoracsur.2004.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15276489" target="_blank">15276489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12794922">Left musculus sternalis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arráez-Aybar LA,
|
||
Sobrado-Perez J,
|
||
Merida-Velasco JR</span><br />
|
||
<span class="medgenPMjournal">Clin Anat</span>
|
||
2003 Jul;16(4):350-4.
|
||
doi: 10.1002/ca.10120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12794922" target="_blank">12794922</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20sternum%20morphology%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 (105)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/33470621">Reconstruction of Congenital Sternal Cleft: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinchcliff KM,
|
||
Xue Y,
|
||
Wong GB</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2021 May 1;86(5S Suppl 3):S418-S421.
|
||
doi: 10.1097/SAP.0000000000002724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33470621" target="_blank">33470621</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20sternum%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 (1)</a></div></div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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