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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
Microscopic colitis: pathophysiology and clinical management.
Miehlke S, Verhaegh B, Tontini GE, Madisch A, Langner C, Münch A
Lancet Gastroenterol Hepatol 2019 Apr;4(4):305-314. doi: 10.1016/S2468-1253(19)30048-2. PMID: 30860066

Recent clinical studies

Etiology

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
Fetal imaging of congenital lung lesions with postnatal correlation.
Sintim-Damoa A, Cohen HL
Pediatr Radiol 2022 Sep;52(10):1921-1934. Epub 2022 Aug 25 doi: 10.1007/s00247-022-05465-w. PMID: 36002772
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
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

Diagnosis

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
Fetal imaging of congenital lung lesions with postnatal correlation.
Sintim-Damoa A, Cohen HL
Pediatr Radiol 2022 Sep;52(10):1921-1934. Epub 2022 Aug 25 doi: 10.1007/s00247-022-05465-w. PMID: 36002772
Congenital pulmonary airway malformation: advances and controversies.
Wong KKY, Flake AW, Tibboel D, Rottier RJ, Tam PKH
Lancet Child Adolesc Health 2018 Apr;2(4):290-297. Epub 2018 Feb 17 doi: 10.1016/S2352-4642(18)30035-X. PMID: 30169300
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
Congenital diaphragmatic hernia-associated cardiac dysfunction.
Patel N, Massolo AC, Kipfmueller F
Semin Perinatol 2020 Feb;44(1):151168. Epub 2019 Jul 30 doi: 10.1053/j.semperi.2019.07.007. PMID: 31420110
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876

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
Fetal imaging of congenital lung lesions with postnatal correlation.
Sintim-Damoa A, Cohen HL
Pediatr Radiol 2022 Sep;52(10):1921-1934. Epub 2022 Aug 25 doi: 10.1007/s00247-022-05465-w. PMID: 36002772
Prediction tools in congenital diaphragmatic hernia.
Jancelewicz T, Brindle ME
Semin Perinatol 2020 Feb;44(1):151165. Epub 2019 Jul 31 doi: 10.1053/j.semperi.2019.07.004. PMID: 31676044
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
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

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
Accessory cardiac bronchus.
Barreiro TJ, Gemmel D
Lung 2014 Oct;192(5):821-2. Epub 2014 Jul 8 doi: 10.1007/s00408-014-9617-2. PMID: 25001980
Airway remodelling in asthma: from benchside to clinical practice.
Bergeron C, Tulic MK, Hamid Q
Can Respir J 2010 Jul-Aug;17(4):e85-93. doi: 10.1155/2010/318029. PMID: 20808979Free PMC Article

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
The impact of the position of the head on the functioning of the human body: a systematic review.
Szczygieł E, Fudacz N, Golec J, Golec E
Int J Occup Med Environ Health 2020 Sep 17;33(5):559-568. Epub 2020 Jul 23 doi: 10.13075/ijomeh.1896.01585. PMID: 32713947
Lung Ultrasound for the Emergency Diagnosis of Pneumonia, Acute Heart Failure, and Exacerbations of Chronic Obstructive Pulmonary Disease/Asthma in Adults: A Systematic Review and Meta-analysis.
Staub LJ, Mazzali Biscaro RR, Kaszubowski E, Maurici R
J Emerg Med 2019 Jan;56(1):53-69. Epub 2018 Oct 9 doi: 10.1016/j.jemermed.2018.09.009. PMID: 30314929
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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