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Abnormal respiratory system morphology

MedGen UID:
868593
•Concept ID:
C4022992
•
Anatomical Abnormality
HPO: HP:0012252

Definition

A structural anomaly of the respiratory system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal respiratory system morphology

Professional guidelines

PubMed

Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Pathophysiology, Transmission, Diagnosis, and Treatment of Coronavirus Disease 2019 (COVID-19): A Review.
Wiersinga WJ, Rhodes A, Cheng AC, Peacock SJ, Prescott HC
JAMA 2020 Aug 25;324(8):782-793. doi: 10.1001/jama.2020.12839. PMID: 32648899
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 lung malformations.
Pederiva F, Rothenberg SS, Hall N, Ijsselstijn H, Wong KKY, von der Thüsen J, Ciet P, Achiron R, Pio d'Adamo A, Schnater JM
Nat Rev Dis Primers 2023 Nov 2;9(1):60. doi: 10.1038/s41572-023-00470-1. PMID: 37919294
Congenital Hepatopulmonary Fusion.
Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
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

Diagnosis

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.
Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Management of Congenital Lung Malformations.
Hegde BN, Tsao K, Hirose S
Clin Perinatol 2022 Dec;49(4):907-926. doi: 10.1016/j.clp.2022.08.003. PMID: 36328607
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
Laryngeal cleft.
Watters K, Ferrari L, Rahbar R
Adv Otorhinolaryngol 2012;73:95-100. Epub 2012 Mar 29 doi: 10.1159/000334452. PMID: 22472237
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

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
Mitochondria signaling pathways in allergic asthma.
Qian L, Mehrabi Nasab E, Athari SM, Athari SS
J Investig Med 2022 Apr;70(4):863-882. Epub 2022 Feb 15 doi: 10.1136/jim-2021-002098. PMID: 35168999Free PMC Article
Persistent pulmonary hypertension of the newborn.
Mandell E, Kinsella JP, Abman SH
Pediatr Pulmonol 2021 Mar;56(3):661-669. doi: 10.1002/ppul.25073. PMID: 32930508
Correction of Short Nose.
Jung DH, Jin SG, Hyun SM
Facial Plast Surg Clin North Am 2018 Aug;26(3):377-388. Epub 2018 Jun 7 doi: 10.1016/j.fsc.2018.03.011. PMID: 30005793
Primary ciliary dyskinesia.
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656

Prognosis

Congenital Hepatopulmonary Fusion.
Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
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
Laryngeal cleft: evaluation and management.
Johnston DR, Watters K, Ferrari LR, Rahbar R
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):905-11. Epub 2014 Mar 27 doi: 10.1016/j.ijporl.2014.03.015. PMID: 24735606
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

Clinical prediction guides

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.
Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Multi-disciplinary management of patients with benign airway strictures: A review.
Agrawal A, Baird BJ, Madariaga MLL, Blair EA, Murgu S
Respir Med 2021 Oct;187:106582. Epub 2021 Aug 21 doi: 10.1016/j.rmed.2021.106582. PMID: 34481304
Long-term outcomes of congenital lung malformations.
Hall NJ, Stanton MP
Semin Pediatr Surg 2017 Oct;26(5):311-316. Epub 2017 Sep 9 doi: 10.1053/j.sempedsurg.2017.09.001. PMID: 29110827
Prenatal prediction of pulmonary hypoplasia.
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581
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

Recent systematic reviews

A systematic review and meta-analysis of long term physical and mental sequelae of COVID-19 pandemic: call for research priority and action.
Zeng N, Zhao YM, Yan W, Li C, Lu QD, Liu L, Ni SY, Mei H, Yuan K, Shi L, Li P, Fan TT, Yuan JL, Vitiello MV, Kosten T, Kondratiuk AL, Sun HQ, Tang XD, Liu MY, Lalvani A, Shi J, Bao YP, Lu L
Mol Psychiatry 2023 Jan;28(1):423-433. Epub 2022 Jun 6 doi: 10.1038/s41380-022-01614-7. PMID: 35668159Free PMC Article
Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.
Detsky ME, Jivraj N, Adhikari NK, Friedrich JO, Pinto R, Simel DL, Wijeysundera DN, Scales DC
JAMA 2019 Feb 5;321(5):493-503. doi: 10.1001/jama.2018.21413. PMID: 30721300
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H
Respir Med 2018 Aug;141:37-46. Epub 2018 Jun 21 doi: 10.1016/j.rmed.2018.06.017. PMID: 30053970Free PMC Article
Prevalence of adenoid hypertrophy: A systematic review and meta-analysis.
Pereira L, Monyror J, Almeida FT, Almeida FR, Guerra E, Flores-Mir C, Pachêco-Pereira C
Sleep Med Rev 2018 Apr;38:101-112. Epub 2017 Jun 14 doi: 10.1016/j.smrv.2017.06.001. PMID: 29153763
Craniofacial and upper airway morphology in adult obstructive sleep apnea patients: A systematic review and meta-analysis of cephalometric studies.
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222

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