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<!--
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UID=82679
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ConceptID=C0264353
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bronchomalacia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82679</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.">C0264353</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>Bronchi Chondromalacia; Bronchi Chondromalacias; Bronchomalacias; Chondromalacia of Bronchi</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bronchomalacia (54203008)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002780">HP:0002780</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>
|
||
<div class="portlet_content ln">Weakness or softness of the cartilage in the walls of the bronchial tubes. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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="TLline">Bronchomalacia</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/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868593" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system morphology">Abnormal respiratory system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867271" ref="tree=MeSH" title="MedGen record for Abnormal tracheobronchial morphology">Abnormal tracheobronchial morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1371523" ref="tree=MeSH" title="MedGen record for Abnormal bronchus morphology">Abnormal bronchus morphology</a></span><ul><li><span class="matched_ds">Bronchomalacia</span><ul><li><span class="TLline"><a href="/medgen/137939" ref="tree=MeSH" title="MedGen record for Tracheobronchomalacia">Tracheobronchomalacia</a></span><ul><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></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_104500"><div><strong>Larsen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104500</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.">C0175778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104500">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_67390"><div><strong>Pfeiffer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67390</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.">C0220658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67390">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_108454"><div><strong>Costello syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108454</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.">C0587248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">While the majority of individuals with HRAS-related Costello syndrome (Costello syndrome) share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a mild or attenuated phenotype to a severe phenotype with early-lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including cardiac hypertrophy (usually hypertrophic cardiomyopathy), congenital heart defects (usually valvular pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially abnormal atrial rhythm / multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108454">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376362"><div><strong>White forelock with malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376362</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.">C1848463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376362">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442566"><div><strong>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442566</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.">C2750804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442566">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_461449"><div><strong>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461449</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.">C3150099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/461449">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462447"><div><strong>Meier-Gorlin syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462447</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.">C3151097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462463"><div><strong>Meier-Gorlin syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462463</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.">C3151113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462463">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903767"><div><strong>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903767</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.">C4225396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903767">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934646"><div><strong>Chitayat syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934646</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.">C4310679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chitayat syndrome (CHYTS) is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934646">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648333"><div><strong>Cardiac-urogenital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648333</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.">C4748946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals can have a range of anomalies of the genitalia, from isolated unilateral cryptorchidism to ambiguous genitalia to typical-appearing female genitalia. 46,XX individuals can have atypical internal genitalia including absent uterus, absent fallopian tubes, small or absent ovaries, absent vagina, or blind-ending vagina. A number of congenital heart defects have been described, with scimitar syndrome being the most common. Eye issues, present in a vast majority of affected individuals, include high hyperopia and nanophthalmos (an ocular malformation featuring short axial length due to small anterior and posterior segments with thickened choroid and sclera and normal lens volume). Because of the common nature of the eye anomalies, it has been suggested that this condition may be more accurately referred to as "MYRF-related ocular cardiac urogenital syndrome." Other features of the condition include a broad range of developmental delay /intellectual disability (DD/ID), from typical development and cognition to severe DD/ID; pulmonary abnormalities and diaphragmatic issues (congenital diaphragmatic hernia / diaphragmatic eventration); intestinal malrotation; and mild growth and feeding problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648333">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788773"><div><strong>Megacystis-microcolon-intestinal hypoperistalsis syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788773</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.">C5543476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019). For a discussion of genetic heterogeneity of MMIHS, see 249210.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788773">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794177"><div><strong>DEGCAGS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794177</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.">C5561967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809613"><div><strong>Hyper-IgE recurrent infection syndrome 4A, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809613</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.">C5676920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyper-IgE syndrome-4A with recurrent infections (HIES4A) is an autosomal dominant immunologic disorder characterized by recurrent, mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 (147620) and IL11 (147681) signaling (summary by Beziat et al., 2020). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1809613">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac-urogenital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chitayat syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Costello syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DEGCAGS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgE recurrent infection syndrome 4A, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_104500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Larsen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megacystis-microcolon-intestinal hypoperistalsis syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pfeiffer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White forelock with malformations</a></div></span></div></div>
|
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</div>
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<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/28274791">The Diagnosis and Management of Airway Complications Following Lung Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahajan AK,
|
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Folch E,
|
||
Khandhar SJ,
|
||
Channick CL,
|
||
Santacruz JF,
|
||
Mehta AC,
|
||
Nathan SD</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2017 Sep;152(3):627-638.
|
||
Epub 2017 Mar 6
|
||
doi: 10.1016/j.chest.2017.02.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28274791" target="_blank">28274791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26593083">Airway Disease and Management in Bronchopulmonary Dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin RS,
|
||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2015 Dec;42(4):857-70.
|
||
doi: 10.1016/j.clp.2015.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26593083" target="_blank">26593083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21897163">Clinical management of pediatric tracheo-bronchomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMullan DM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Crit Care Med</span>
|
||
2011 Sep;12(5):599-600.
|
||
doi: 10.1097/PCC.0b013e31820712a5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21897163" target="_blank">21897163</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bronchomalacia%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 (26)</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/30054074">Management of Bronchial Complications After Lung Transplantation and Sequelae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varela A,
|
||
Hoyos L,
|
||
Romero A,
|
||
Campo-Cañaveral JL,
|
||
Crowley S</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2018 Aug;28(3):365-375.
|
||
doi: 10.1016/j.thorsurg.2018.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054074" target="_blank">30054074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29622320">Laryngomalacia, Tracheomalacia and Bronchomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hysinger EB</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2018 Apr;48(4):113-118.
|
||
Epub 2018 Apr 3
|
||
doi: 10.1016/j.cppeds.2018.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29622320" target="_blank">29622320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19131533">Airway complications and management after lung transplantation: ischemia, dehiscence, and stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santacruz JF,
|
||
Mehta AC</span><br />
|
||
<span class="medgenPMjournal">Proc Am Thorac Soc</span>
|
||
2009 Jan 15;6(1):79-93.
|
||
doi: 10.1513/pats.200808-094GO.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19131533" target="_blank">19131533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19022496">Clinical transplantation of a tissue-engineered airway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Macchiarini P,
|
||
Jungebluth P,
|
||
Go T,
|
||
Asnaghi MA,
|
||
Rees LE,
|
||
Cogan TA,
|
||
Dodson A,
|
||
Martorell J,
|
||
Bellini S,
|
||
Parnigotto PP,
|
||
Dickinson SC,
|
||
Hollander AP,
|
||
Mantero S,
|
||
Conconi MT,
|
||
Birchall MA</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2008 Dec 13;372(9655):2023-30.
|
||
Epub 2008 Nov 18
|
||
doi: 10.1016/S0140-6736(08)61598-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19022496" target="_blank">19022496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12384879">Human heart, lung and heart-lung transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schröder C,
|
||
Macchiarini P</span><br />
|
||
<span class="medgenPMjournal">Surg Technol Int</span>
|
||
2002 Sep;10:178-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12384879" target="_blank">12384879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bronchomalacia%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 (149)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31320455">ERS statement on tracheomalacia and bronchomalacia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wallis C,
|
||
Alexopoulou E,
|
||
Antón-Pacheco JL,
|
||
Bhatt JM,
|
||
Bush A,
|
||
Chang AB,
|
||
Charatsi AM,
|
||
Coleman C,
|
||
Depiazzi J,
|
||
Douros K,
|
||
Eber E,
|
||
Everard M,
|
||
Kantar A,
|
||
Masters IB,
|
||
Midulla F,
|
||
Nenna R,
|
||
Roebuck D,
|
||
Snijders D,
|
||
Priftis K</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2019 Sep;54(3)
|
||
Epub 2019 Sep 28
|
||
doi: 10.1183/13993003.00382-2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31320455" target="_blank">31320455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27301603">Vascular rings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backer CL,
|
||
Mongé MC,
|
||
Popescu AR,
|
||
Eltayeb OM,
|
||
Rastatter JC,
|
||
Rigsby CK</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2016 Jun;25(3):165-75.
|
||
Epub 2016 Feb 22
|
||
doi: 10.1053/j.sempedsurg.2016.02.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27301603" target="_blank">27301603</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26593083">Airway Disease and Management in Bronchopulmonary Dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin RS,
|
||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2015 Dec;42(4):857-70.
|
||
doi: 10.1016/j.clp.2015.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26593083" target="_blank">26593083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12535032">Tracheomalacia and bronchomalacia in children: pathophysiology, assessment, treatment and anaesthesia management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Austin J,
|
||
Ali T</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2003 Jan;13(1):3-11.
|
||
doi: 10.1046/j.1460-9592.2003.00802.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12535032" target="_blank">12535032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12384879">Human heart, lung and heart-lung transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schröder C,
|
||
Macchiarini P</span><br />
|
||
<span class="medgenPMjournal">Surg Technol Int</span>
|
||
2002 Sep;10:178-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12384879" target="_blank">12384879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bronchomalacia%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 (165)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37646125">Dynamic computed tomography for evaluation of tracheobronchomalacia in premature infants with bronchopulmonary dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pugh CP,
|
||
Ali S,
|
||
Agarwal A,
|
||
Matlock DN,
|
||
Sharma M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2023 Nov;58(11):3255-3263.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1002/ppul.26652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37646125" target="_blank">37646125</a><a href="/pmc/articles/PMC10993911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30054074">Management of Bronchial Complications After Lung Transplantation and Sequelae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varela A,
|
||
Hoyos L,
|
||
Romero A,
|
||
Campo-Cañaveral JL,
|
||
Crowley S</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2018 Aug;28(3):365-375.
|
||
doi: 10.1016/j.thorsurg.2018.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054074" target="_blank">30054074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26968054">Treatment of severe tracheobronchomalacia: Ten-year experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Trey LA,
|
||
Dudley J,
|
||
Ismail-Koch H,
|
||
Durward A,
|
||
Bellsham-Revell H,
|
||
Blaney S,
|
||
Hore I,
|
||
Austin CB,
|
||
Morrison GA</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2016 Apr;83:57-62.
|
||
Epub 2016 Jan 27
|
||
doi: 10.1016/j.ijporl.2016.01.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26968054" target="_blank">26968054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21334127">Treatment of airway complications following lung transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Bussy S,
|
||
Majid A,
|
||
Caviedes I,
|
||
Akindipe O,
|
||
Baz M,
|
||
Jantz M</span><br />
|
||
<span class="medgenPMjournal">Arch Bronconeumol</span>
|
||
2011 Mar;47(3):128-33.
|
||
Epub 2011 Feb 18
|
||
doi: 10.1016/j.arbres.2010.10.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21334127" target="_blank">21334127</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12384879">Human heart, lung and heart-lung transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schröder C,
|
||
Macchiarini P</span><br />
|
||
<span class="medgenPMjournal">Surg Technol Int</span>
|
||
2002 Sep;10:178-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12384879" target="_blank">12384879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bronchomalacia%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 (70)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28209649">Isolated pulmonary mucormycosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mani RK,
|
||
Mishra V,
|
||
Sharma M,
|
||
Kumar RA</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Feb 16;2017
|
||
doi: 10.1136/bcr-2017-219342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28209649" target="_blank">28209649</a><a href="/pmc/articles/PMC5318590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26968054">Treatment of severe tracheobronchomalacia: Ten-year experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Trey LA,
|
||
Dudley J,
|
||
Ismail-Koch H,
|
||
Durward A,
|
||
Bellsham-Revell H,
|
||
Blaney S,
|
||
Hore I,
|
||
Austin CB,
|
||
Morrison GA</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2016 Apr;83:57-62.
|
||
Epub 2016 Jan 27
|
||
doi: 10.1016/j.ijporl.2016.01.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26968054" target="_blank">26968054</a></div>
|
||
|
||
<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/19131533">Airway complications and management after lung transplantation: ischemia, dehiscence, and stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santacruz JF,
|
||
Mehta AC</span><br />
|
||
<span class="medgenPMjournal">Proc Am Thorac Soc</span>
|
||
2009 Jan 15;6(1):79-93.
|
||
doi: 10.1513/pats.200808-094GO.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19131533" target="_blank">19131533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3440899">Surgical implications of bronchopulmonary dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenholz SK,
|
||
Hall RJ,
|
||
Lilly JR,
|
||
Shikes RH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
1987 Dec;22(12):1132-6.
|
||
doi: 10.1016/s0022-3468(87)80723-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3440899" target="_blank">3440899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bronchomalacia%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 (93)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/33025224">Recent approaches in clinical applications of 3D printing in neonates and pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">V S S,
|
||
Panigrahy N,
|
||
Rath SN</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2021 Feb;180(2):323-332.
|
||
Epub 2020 Oct 6
|
||
doi: 10.1007/s00431-020-03819-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33025224" target="_blank">33025224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29622320">Laryngomalacia, Tracheomalacia and Bronchomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hysinger EB</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2018 Apr;48(4):113-118.
|
||
Epub 2018 Apr 3
|
||
doi: 10.1016/j.cppeds.2018.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29622320" target="_blank">29622320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27329014">Oki stent application in different indications: Six cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Özgül MA,
|
||
Çetinkaya E,
|
||
Çörtük M,
|
||
Tanrıverdi E,
|
||
Yıldırım BZ,
|
||
Balci MK,
|
||
Issaka A,
|
||
Özgül G</span><br />
|
||
<span class="medgenPMjournal">Clin Respir J</span>
|
||
2018 Jan;12(1):234-240.
|
||
Epub 2016 Jul 13
|
||
doi: 10.1111/crj.12521.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27329014" target="_blank">27329014</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=%22Bronchomalacia%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 (58)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/27729160">Bronchoscopy findings in recurrent croup: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hiebert JC,
|
||
Zhao YD,
|
||
Willis EB</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2016 Nov;90:86-90.
|
||
Epub 2016 Sep 5
|
||
doi: 10.1016/j.ijporl.2016.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27729160" target="_blank">27729160</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bronchomalacia%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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