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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.
Hennekam lymphangiectasia-lymphedema syndrome 2
MedGen UID:
863376
Concept ID:
C4014939
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).

Professional guidelines

PubMed

Zhang W, Chen J
Prenat Diagn 2022 Apr;42(4):482-483. Epub 2022 Jan 31 doi: 10.1002/pd.6100. PMID: 35037266
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Isono S
Anesthesiology 2009 Apr;110(4):908-21. doi: 10.1097/ALN.0b013e31819c74be. PMID: 19293689

Recent clinical studies

Etiology

K Rahmath MR, Durward A
Pediatr Pulmonol 2023 May;58(5):1299-1309. Epub 2023 Feb 24 doi: 10.1002/ppul.26345. PMID: 36790334
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
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
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
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
Lancet 2008 Dec 13;372(9655):2023-30. Epub 2008 Nov 18 doi: 10.1016/S0140-6736(08)61598-6. PMID: 19022496

Diagnosis

Sittel C, Koitschev A, Schön C, Reiter K
Laryngorhinootologie 2024 May;103(S 01):S148-S166. Epub 2024 May 2 doi: 10.1055/a-2181-9576. PMID: 38697146
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Strychowsky JE, Rahbar R
Semin Pediatr Surg 2016 Jun;25(3):128-31. Epub 2016 Feb 21 doi: 10.1053/j.sempedsurg.2016.02.005. PMID: 27301597
Windsor A, Clemmens C, Jacobs IN
Paediatr Respir Rev 2016 Jan;17:24-8. Epub 2015 Jul 10 doi: 10.1016/j.prrv.2015.07.001. PMID: 26277452
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

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
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
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
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
Epstein SK
Respir Care 2005 Apr;50(4):542-9. PMID: 15807919

Prognosis

Tsao K, Johnson A
Semin Perinatol 2020 Feb;44(1):151164. Epub 2019 Jul 30 doi: 10.1053/j.semperi.2019.07.003. PMID: 31451196
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
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Murgu S, Colt H
Clin Chest Med 2013 Sep;34(3):527-55. Epub 2013 Jun 27 doi: 10.1016/j.ccm.2013.05.003. PMID: 23993822
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

Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G
Hum Mol Genet 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. PMID: 33276377Free PMC Article
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
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
Murgu S, Colt H
Clin Chest Med 2013 Sep;34(3):527-55. Epub 2013 Jun 27 doi: 10.1016/j.ccm.2013.05.003. PMID: 23993822
Claus F, Sandaite I, DeKoninck P, Moreno O, Cruz Martinez R, Van Mieghem T, Gucciardo L, Richter J, Michielsen K, Decraene J, Devlieger R, Gratacos E, Deprest JA
Fetal Diagn Ther 2011;29(1):88-100. Epub 2010 Nov 9 doi: 10.1159/000320605. PMID: 21063073

Recent systematic reviews

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
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
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
Adil EA, Kawai K, Dombrowski N, Irace AL, Cunningham MJ
Laryngoscope 2017 Jan;127(1):6-13. Epub 2016 Jun 16 doi: 10.1002/lary.26070. PMID: 27312809
Lee EY, Restrepo R, Dillman JR, Ridge CA, Hammer MR, Boiselle PM
Semin Roentgenol 2012 Apr;47(2):182-96. doi: 10.1053/j.ro.2011.12.002. PMID: 22370196

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