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<meta name="keywords" content="C0340231, bronchomalacia, chondromalacia of trachea and bronchi, disease or syndrome, syndrome, williams-campbell, tbm, tracheobronchomalacia, tracheobronchomalacias, williams campbell syndrome, williams-campbell syndrome, 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="Williams-Campbell syndrome is a congenital disorder characterized by severe bronchiectasis and recurrent pulmonary infections caused by a cartilage abnormality involving the 4th-6th order subsegmental bronchi. It typically presents in infancy or childhood with symptoms of coughing, wheezing, and dyspnea. Imaging reveals normal central airways with severe bilateral cystic bronchiectasis in the subsegmental bronchi, often associated with bronchial wall thickening, mucous plugging, and bronchomalacia. During dynamic imaging, the abnormal bronchi will demonstrate ballooning on inspiratory imaging and collapse/air-trapping on expiratory imaging (summary by Marini et al., 2017)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Tracheobronchomalacia (Concept Id: C0340231)
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<!--
UID=137939
ConceptID=C0340231
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tracheobronchomalacia<span class="h1sub">(TBM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137939</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)&#10;Click for more information.">C0340231</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>TBM; WILLIAMS-CAMPBELL SYNDROME</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Tracheobronchomalacia (233788001); Williams-Campbell syndrome (233788001)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0002786">HP:0002786</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008888" target="_blank">MONDO:0008888</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/211450" target="_blank">211450</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=411501">ORPHA411501</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Williams-Campbell syndrome is a congenital disorder characterized by severe bronchiectasis and recurrent pulmonary infections caused by a cartilage abnormality involving the 4th-6th order subsegmental bronchi. It typically presents in infancy or childhood with symptoms of coughing, wheezing, and dyspnea. Imaging reveals normal central airways with severe bilateral cystic bronchiectasis in the subsegmental bronchi, often associated with bronchial wall thickening, mucous plugging, and bronchomalacia. During dynamic imaging, the abnormal bronchi will demonstrate ballooning on inspiratory imaging and collapse/air-trapping on expiratory imaging (summary by Marini et al., 2017). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=137939" target="_blank" href="/omim/211450">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Tracheobronchomalacia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/19750" ref="tree=MeSH" title="MedGen record for Disease, Respiratory Tract">Disease, Respiratory Tract</a></span><ul><li><span class="TLline"><a href="/medgen/14233" ref="tree=MeSH" title="MedGen record for Abnormality of the bronchi">Abnormality of the bronchi</a></span><ul><li><span class="matched_ds">Tracheobronchomalacia</span><ul><li><span class="TLline"><a href="/medgen/82679" ref="tree=MeSH" title="MedGen record for Bronchomalacia">Bronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1814106" ref="tree=MeSH" title="MedGen record for Cartilaginous tracheobronchomalacia">Cartilaginous tracheobronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1813883" ref="tree=MeSH" title="MedGen record for Excessive dynamic airway collapse">Excessive dynamic airway collapse</a></span></li><li><span class="TLline"><a href="/medgen/215296" ref="tree=MeSH" title="MedGen record for Tracheomalacia">Tracheomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/107947" ref="tree=MeSH" title="MedGen record for Laryngotracheomalacia">Laryngotracheomalacia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<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_7734"><div><strong>Mucopolysaccharidosis, MPS-II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7734</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)&#10;Click for more information.">C0026705</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with the neuronopathic phenotype, central nervous system (CNS) involvement (manifesting primarily as progressive cognitive deterioration), progressive airway disease, and cardiac disease usually results in death in the first or second decade of life. In those with the non-neuronopathic phenotype, the CNS is minimally or not affected. However, the effect of GAG accumulation on other organ systems can be severe. Survival into the early adult years with normal intelligence is common in the non-neuronopathic phenotype. Additional findings in neuronopathic and non-neuronopathic MPS II include: short stature, macrocephaly with or without communicating hydrocephalus, macroglossia, hoarse voice, conductive and sensorineural hearing loss, dysostosis multiplex, spinal stenosis, carpal tunnel syndrome, and hepatosplenomegaly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7734">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_208639"><div><strong>Kleefstra syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208639</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)&#10;Click for more information.">C0795833</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-normal range. While most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed; these include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy / febrile seizures, psychiatric disorders, and extreme apathy or catatonic-like features after puberty.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208639">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_354620"><div><strong>Camptomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354620</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1861922</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/354620">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462058"><div><strong>Chromosome 16p13.3 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462058</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)&#10;Click for more information.">C3150708</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462058">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_905079"><div><strong>Meier-Gorlin syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905079</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)&#10;Click for more information.">C4225188</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/905079">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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)&#10;Click for more information.">C4225317</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1619532"><div><strong>Intellectual disability, autosomal dominant 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619532</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)&#10;Click for more information.">C4540321</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1619532">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1782253"><div><strong>Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782253</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)&#10;Click for more information.">C5543057</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies-2 (SSFSC2) is characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Cardiac anomalies have been reported in some patients (Lin et al., 2021).&#13; For a discussion of genetic heterogeneity of SSFSC, see SSFSC1 (617877).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1782253">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptomelic dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 16p13.3 duplication syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 48</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kleefstra syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-II</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2</a></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/32354548">Tracheobronchomalacia, Tracheobronchial Compression, and Tracheobronchial Malformations: Diagnostic and Treatment Strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kamran A,
Baird CW,
Jennings RW</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
2020;23:53-61.
doi: 10.1053/j.pcsu.2020.02.006.
<span class="bold">PMID: </span><a href="/pubmed/32354548" target="_blank">32354548</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30589929">Diagnosis, Classification, and Management of Pediatric Tracheobronchomalacia: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Choi S,
Lawlor C,
Rahbar R,
Jennings R</span><br />
<span class="medgenPMjournal">JAMA Otolaryngol Head Neck Surg</span>
2019 Mar 1;145(3):265-275.
doi: 10.1001/jamaoto.2018.3276.
<span class="bold">PMID: </span><a href="/pubmed/30589929" target="_blank">30589929</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30641584">Tracheobronchomalacia and Excessive Dynamic Airway Collapse: Medical and Surgical Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kheir F,
Majid A</span><br />
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
2018 Dec;39(6):667-673.
Epub 2019 Jan 14
doi: 10.1055/s-0038-1676571.
<span class="bold">PMID: </span><a href="/pubmed/30641584" target="_blank">30641584</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tracheobronchomalacia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (24)</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/36372534">Robotic Surgery for Tracheobronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seastedt KP,
Wilson JL,
Gangadharan SP</span><br />
<span class="medgenPMjournal">Thorac Surg Clin</span>
2023 Feb;33(1):61-69.
doi: 10.1016/j.thorsurg.2022.09.003.
<span class="bold">PMID: </span><a href="/pubmed/36372534" target="_blank">36372534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34811894">Respiratory manifestations in the Ehlers-Danlos syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bascom R,
Dhingra R,
Francomano CA</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2021 Dec;187(4):533-548.
Epub 2021 Nov 22
doi: 10.1002/ajmg.c.31953.
<span class="bold">PMID: </span><a href="/pubmed/34811894" target="_blank">34811894</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30279066">Expiratory Central Airway Collapse in Adults: Corrective Treatment (Part 2).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz Milian R,
Foley E,
Bauer M,
Martinez-Velez A,
Castresana MR</span><br />
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
2019 Sep;33(9):2555-2560.
Epub 2018 Sep 8
doi: 10.1053/j.jvca.2018.09.009.
<span class="bold">PMID: </span><a href="/pubmed/30279066" target="_blank">30279066</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21092895">Tracheobronchomalacia in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gangadharan SP</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
2010 Summer;22(2):165-73.
doi: 10.1053/j.semtcvs.2010.07.001.
<span class="bold">PMID: </span><a href="/pubmed/21092895" target="_blank">21092895</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20408336">Evaluation of infants and children with refractory lower respiratory tract symptoms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chipps BE</span><br />
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
2010 Apr;104(4):279-83; quiz 283-5, 298.
doi: 10.1016/j.anai.2009.11.002.
<span class="bold">PMID: </span><a href="/pubmed/20408336" target="_blank">20408336</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheobronchomalacia%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 (192)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34726534">Williams-Campbell Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S</span><br />
<span class="medgenPMjournal">Radiology</span>
2022 Feb;302(2):274.
Epub 2021 Nov 2
doi: 10.1148/radiol.2021211621.
<span class="bold">PMID: </span><a href="/pubmed/34726534" target="_blank">34726534</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34811894">Respiratory manifestations in the Ehlers-Danlos syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bascom R,
Dhingra R,
Francomano CA</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2021 Dec;187(4):533-548.
Epub 2021 Nov 22
doi: 10.1002/ajmg.c.31953.
<span class="bold">PMID: </span><a href="/pubmed/34811894" target="_blank">34811894</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29627050">Tracheobronchomalacia and Expiratory Collapse of Central Airways.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wright CD</span><br />
<span class="medgenPMjournal">Thorac Surg Clin</span>
2018 May;28(2):163-166.
doi: 10.1016/j.thorsurg.2018.01.006.
<span class="bold">PMID: </span><a href="/pubmed/29627050" target="_blank">29627050</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27301602">Pediatric tracheomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fraga JC,
Jennings RW,
Kim PC</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2016 Jun;25(3):156-64.
Epub 2016 Feb 22
doi: 10.1053/j.sempedsurg.2016.02.008.
<span class="bold">PMID: </span><a href="/pubmed/27301602" target="_blank">27301602</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25962857">Paediatric Tracheomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hysinger EB,
Panitch HB</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2016 Jan;17:9-15.
Epub 2015 Mar 17
doi: 10.1016/j.prrv.2015.03.002.
<span class="bold">PMID: </span><a href="/pubmed/25962857" target="_blank">25962857</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheobronchomalacia%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 (255)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/30279064">Expiratory Central Airway Collapse in Adults: Anesthetic Implications (Part 1).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz Milian R,
Foley E,
Bauer M,
Martinez-Velez A,
Castresana MR</span><br />
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
2019 Sep;33(9):2546-2554.
Epub 2018 Aug 31
doi: 10.1053/j.jvca.2018.08.205.
<span class="bold">PMID: </span><a href="/pubmed/30279064" target="_blank">30279064</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28864055">Tracheobronchopathy From Inhaled Corticosteroids.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Husta BC,
Raoof S,
Erzurum S,
Mehta AC</span><br />
<span class="medgenPMjournal">Chest</span>
2017 Dec;152(6):1296-1305.
Epub 2017 Aug 31
doi: 10.1016/j.chest.2017.08.013.
<span class="bold">PMID: </span><a href="/pubmed/28864055" target="_blank">28864055</a><a href="/pmc/articles/PMC6026226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25962857">Paediatric Tracheomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hysinger EB,
Panitch HB</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2016 Jan;17:9-15.
Epub 2015 Mar 17
doi: 10.1016/j.prrv.2015.03.002.
<span class="bold">PMID: </span><a href="/pubmed/25962857" target="_blank">25962857</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22676978">Tracheobronchoplasty for the treatment of tracheobronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lagisetty KH,
Gangadharan SP</span><br />
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
2012 Sep;144(3):S58-9.
Epub 2012 Jun 5
doi: 10.1016/j.jtcvs.2012.05.025.
<span class="bold">PMID: </span><a href="/pubmed/22676978" target="_blank">22676978</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10201046">Stenting therapy for stenosing airway diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips MJ</span><br />
<span class="medgenPMjournal">Respirology</span>
1998 Dec;3(4):215-9.
doi: 10.1111/j.1440-1843.1998.tb00125.x.
<span class="bold">PMID: </span><a href="/pubmed/10201046" target="_blank">10201046</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheobronchomalacia%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 (94)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/22151899">Laryngo-tracheo-oesophageal clefts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leboulanger N,
Garabédian EN</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2011 Dec 7;6:81.
doi: 10.1186/1750-1172-6-81.
<span class="bold">PMID: </span><a href="/pubmed/22151899" target="_blank">22151899</a><a href="/pmc/articles/PMC3261097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20408336">Evaluation of infants and children with refractory lower respiratory tract symptoms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chipps BE</span><br />
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
2010 Apr;104(4):279-83; quiz 283-5, 298.
doi: 10.1016/j.anai.2009.11.002.
<span class="bold">PMID: </span><a href="/pubmed/20408336" target="_blank">20408336</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19532025">Review of adult tracheomalacia and its relationship with chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kandaswamy C,
Balasubramanian V</span><br />
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
2009 Mar;15(2):113-9.
doi: 10.1097/MCP.0b013e328321832d.
<span class="bold">PMID: </span><a href="/pubmed/19532025" target="_blank">19532025</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8664011">Pediatric and adult tracheobronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Masaoka A,
Yamakawa Y,
Niwa H,
Hara F,
Kondo S,
Fukai I,
Kiriyama M</span><br />
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
1996;10(2):87-92.
doi: 10.1016/s1010-7940(96)80129-1.
<span class="bold">PMID: </span><a href="/pubmed/8664011" target="_blank">8664011</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6754413">Acquired tracheobronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nuutinen J</span><br />
<span class="medgenPMjournal">Eur J Respir Dis</span>
1982 Sep;63(5):380-7.
<span class="bold">PMID: </span><a href="/pubmed/6754413" target="_blank">6754413</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheobronchomalacia%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 (95)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34562108">Computed tomography of the airways and lungs in congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rapp JB,
White AM,
Otero HJ,
Biko DM</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2022 Dec;52(13):2529-2537.
Epub 2021 Sep 25
doi: 10.1007/s00247-021-05186-6.
<span class="bold">PMID: </span><a href="/pubmed/34562108" target="_blank">34562108</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34488309">Bronchial Anthracofibrosis and Tracheobronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Samareh-Fekri M,
Hashemi Bajgani SM,
Shafahi A,
Shafiepour M,
Yazdani R,
Ahmadpour Baghdadabad MH</span><br />
<span class="medgenPMjournal">Arch Iran Med</span>
2021 Jun 1;24(6):467-472.
doi: 10.34172/aim.2021.67.
<span class="bold">PMID: </span><a href="/pubmed/34488309" target="_blank">34488309</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29036724">Etiology and Clinical Characteristics of Community-Acquired Pneumonia with Airway Malacia in Children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Qing W,
Chuang-Li H,
Wei J,
Zheng-Rong C,
Xin-Xin Z,
Wen-Jing G</span><br />
<span class="medgenPMjournal">J Trop Pediatr</span>
2018 Aug 1;64(4):317-325.
doi: 10.1093/tropej/fmx071.
<span class="bold">PMID: </span><a href="/pubmed/29036724" target="_blank">29036724</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20408336">Evaluation of infants and children with refractory lower respiratory tract symptoms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chipps BE</span><br />
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
2010 Apr;104(4):279-83; quiz 283-5, 298.
doi: 10.1016/j.anai.2009.11.002.
<span class="bold">PMID: </span><a href="/pubmed/20408336" target="_blank">20408336</a></div>
<div class="nl"><a target="_blank" href="/pubmed/883758">Acquired tracheobronchomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jokinen K,
Palva T,
Sutinen S,
Nuutinen J</span><br />
<span class="medgenPMjournal">Ann Clin Res</span>
1977 Apr;9(2):52-7.
<span class="bold">PMID: </span><a href="/pubmed/883758" target="_blank">883758</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheobronchomalacia%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 (91)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/33017664">The role of bioresorbable intraluminal airway stents in pediatric tracheobronchial obstruction: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stramiello JA,
Mohammadzadeh A,
Ryan J,
Brigger MT</span><br />
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
2020 Dec;139:110405.
Epub 2020 Sep 30
doi: 10.1016/j.ijporl.2020.110405.
<span class="bold">PMID: </span><a href="/pubmed/33017664" target="_blank">33017664</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tracheobronchomalacia%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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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tracheobronchomalacia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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