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Abnormal tracheal morphology

MedGen UID:
892789
•Concept ID:
C4025678
•
Anatomical Abnormality
Synonym: Abnormality of the trachea
 
HPO: HP:0002778
Monarch Initiative: MONDO:0002567

Definition

A structural anomaly of the trachea. [from HPO]

Conditions with this feature

Congenital laryngomalacia
MedGen UID:
120500
•Concept ID:
C0264303
•
Anatomical Abnormality
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
See: Condition Record
Congenital laryngomalacia

Professional guidelines

PubMed

Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
Diagnosis and Management of Laryngotracheoesophageal Cleft.
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247

Recent clinical studies

Etiology

Congenital vascular ring.
Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Airway Anomalies.
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Pediatric airway surgery.
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Tracheostomy Tube Placement: Early and Late Complications.
Fernandez-Bussy S, Mahajan B, Folch E, Caviedes I, Guerrero J, Majid A
J Bronchology Interv Pulmonol 2015 Oct;22(4):357-64. doi: 10.1097/LBR.0000000000000177. PMID: 26348694

Diagnosis

Airway Anomalies.
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Diagnosis and Management of Laryngotracheoesophageal Cleft.
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Congenital diaphragmatic hernia.
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Tracheal A-Frame Deformities Following Airway Reconstruction.
Kennedy AA, de Alarcon A, Tabangin ME, Rutter MJ, Myer CM 4th, Smith MM, Hart CK
Laryngoscope 2021 Apr;131(4):E1363-E1368. Epub 2020 Aug 26 doi: 10.1002/lary.28996. PMID: 32846022
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Paediatric Tracheomalacia.
Hysinger EB, Panitch HB
Paediatr Respir Rev 2016 Jan;17:9-15. Epub 2015 Mar 17 doi: 10.1016/j.prrv.2015.03.002. PMID: 25962857
Tracheostomy Tube Placement: Early and Late Complications.
Fernandez-Bussy S, Mahajan B, Folch E, Caviedes I, Guerrero J, Majid A
J Bronchology Interv Pulmonol 2015 Oct;22(4):357-64. doi: 10.1097/LBR.0000000000000177. PMID: 26348694

Prognosis

Airway Anomalies.
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Diagnosis and Management of Laryngotracheoesophageal Cleft.
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Pediatric airway surgery.
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Clinical prediction guides

Spectrum of fetal limb anomalies.
Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Laryngotracheal Stenosis Management: A 16-Year Experience.
Woliansky J, Paddle P, Phyland D
Ear Nose Throat J 2021 Jun;100(5):360-367. Epub 2019 Sep 23 doi: 10.1177/0145561319873593. PMID: 31547701
Congenital tracheobronchial stenosis.
Hewitt RJ, Butler CR, Maughan EF, Elliott MJ
Semin Pediatr Surg 2016 Jun;25(3):144-9. Epub 2016 Feb 19 doi: 10.1053/j.sempedsurg.2016.02.007. PMID: 27301600
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924
Mounier-Kuhn syndrome.
Simon M, Vremaroiu P, Andrei F
J Bronchology Interv Pulmonol 2014 Apr;21(2):145-9. doi: 10.1097/LBR.0000000000000068. PMID: 24739689

Recent systematic reviews

Slide Tracheoplasty for Congenital Tracheal Stenosis Repair: A Systematic Review and Meta-Analysis.
Wu Y, Wang G, Dai J, Li H, Li Y, Wu C, Wei G
Laryngoscope 2022 Aug;132(8):1532-1541. Epub 2021 Jul 20 doi: 10.1002/lary.29771. PMID: 34287919
Clinical presentation and airway management of tracheal atresia: A systematic review.
Smith MM, Huang A, Labbé M, Lubov J, Nguyen LHP
Int J Pediatr Otorhinolaryngol 2017 Oct;101:57-64. Epub 2017 Jul 24 doi: 10.1016/j.ijporl.2017.07.028. PMID: 28964311
Fetal Tracheal Occlusion for Severe Pulmonary Hypoplasia in Isolated Congenital Diaphragmatic Hernia: A Systematic Review and Meta-analysis of Survival.
Al-Maary J, Eastwood MP, Russo FM, Deprest JA, Keijzer R
Ann Surg 2016 Dec;264(6):929-933. doi: 10.1097/SLA.0000000000001675. PMID: 26910202
Tracheal cartilaginous sleeve association with syndromic midface hypoplasia.
Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853
Congenital tracheal stenosis managed conservatively: systematic review of the literature.
Ywakim R, El-Hakim H
J Otolaryngol Head Neck Surg 2012 Aug;41(4):288-302. PMID: 22935181

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