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Congenital malformation of the respiratory system

MedGen UID:
48425
•Concept ID:
C0035238
•
Congenital Abnormality
Synonyms: Abnormalities, Respiratory System; Abnormality, Respiratory System; Respiratory System Abnormalities; Respiratory System Abnormality; System Abnormalities, Respiratory; System Abnormality, Respiratory
SNOMED CT: Congenital anomaly of the respiratory system (275260000); Congenital respiratory tract malformation (275260000); Congenital malformation of the respiratory system (275260000)

Definition

An abnormality of the respiratory system that is present at birth or detected in the neonatal period. [from NCI]

Professional guidelines

PubMed

Treatment Trials in Young Patients with Chronic Obstructive Pulmonary Disease and Pre-Chronic Obstructive Pulmonary Disease Patients: Time to Move Forward.
Martinez FJ, Agusti A, Celli BR, Han MK, Allinson JP, Bhatt SP, Calverley P, Chotirmall SH, Chowdhury B, Darken P, Da Silva CA, Donaldson G, Dorinsky P, Dransfield M, Faner R, Halpin DM, Jones P, Krishnan JA, Locantore N, Martinez FD, Mullerova H, Price D, Rabe KF, Reisner C, Singh D, Vestbo J, Vogelmeier CF, Wise RA, Tal-Singer R, Wedzicha JA
Am J Respir Crit Care Med 2022 Feb 1;205(3):275-287. doi: 10.1164/rccm.202107-1663SO. PMID: 34672872Free PMC Article
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

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
Fetal Evaluation and Airway Management.
Prickett K, Javia L
Clin Perinatol 2018 Dec;45(4):609-628. doi: 10.1016/j.clp.2018.07.003. PMID: 30396408
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
Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use.
Leblanc C, Baron M, Desselas E, Phan MH, Rybak A, Thouvenin G, Lauby C, Irtan S
Eur J Pediatr 2017 Dec;176(12):1559-1571. Epub 2017 Oct 19 doi: 10.1007/s00431-017-3032-7. PMID: 29046943
Pulmonary sequestration.
Corbett HJ, Humphrey GM
Paediatr Respir Rev 2004 Mar;5(1):59-68. doi: 10.1016/j.prrv.2003.09.009. PMID: 15222956

Diagnosis

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 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
Glottic stenosis.
Stephenson KA, Wyatt ME
Semin Pediatr Surg 2016 Jun;25(3):132-7. Epub 2016 Feb 21 doi: 10.1053/j.sempedsurg.2016.02.003. PMID: 27301598

Therapy

Presentation, Diagnosis, and Management of Subglottic and Tracheal Stenosis During Systemic Inflammatory Diseases.
Catano J, Uzunhan Y, Paule R, Dion J, Régent A, Legendre P, Gonin F, Martinod E, Cohen P, Puéchal X, Le Guern V, Mouthon L, Coste A, Lorut C, La Croix C, Périé S, Terrier B
Chest 2022 Jan;161(1):257-265. Epub 2021 Jul 26 doi: 10.1016/j.chest.2021.07.037. PMID: 34324839
Primary Ciliary Dyskinesia.
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Primary ciliary dyskinesia.
Lobo J, Zariwala MA, Noone PG
Semin Respir Crit Care Med 2015 Apr;36(2):169-79. Epub 2015 Mar 31 doi: 10.1055/s-0035-1546748. PMID: 25826585Free PMC Article
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
Congenital lung lesions.
Puligandla PS, Laberge JM
Clin Perinatol 2012 Jun;39(2):331-47. doi: 10.1016/j.clp.2012.04.009. PMID: 22682383

Prognosis

The Proteomic Profile of Interstitial Lung Abnormalities.
Axelsson GT, Gudmundsson G, Pratte KA, Aspelund T, Putman RK, Sanders JL, Gudmundsson EF, Hatabu H, Gudmundsdottir V, Gudjonsson A, Hino T, Hida T, Hobbs BD, Cho MH, Silverman EK, Bowler RP, Launer LJ, Jennings LL, Hunninghake GM, Emilsson V, Gudnason V
Am J Respir Crit Care Med 2022 Aug 1;206(3):337-346. doi: 10.1164/rccm.202110-2296OC. PMID: 35438610Free PMC Article
Congenital lung lesions.
Zobel M, Gologorsky R, Lee H, Vu L
Semin Pediatr Surg 2019 Aug;28(4):150821. Epub 2019 Jul 18 doi: 10.1053/j.sempedsurg.2019.07.004. PMID: 31451177
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
Primary Ciliary Dyskinesia.
Fitzgerald DA, Shapiro AJ
Paediatr Respir Rev 2016 Mar;18:1-2. Epub 2015 Dec 29 doi: 10.1016/j.prrv.2015.11.010. PMID: 26826908
Fetal bronchopulmonary malformations.
Nunes C, Pereira I, Araújo C, Santo SF, Carvalho RM, Melo A, Graça LM
J Matern Fetal Neonatal Med 2015 Nov;28(16):1996-2000. Epub 2014 Dec 4 doi: 10.3109/14767058.2014.984603. PMID: 25394612

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
The Proteomic Profile of Interstitial Lung Abnormalities.
Axelsson GT, Gudmundsson G, Pratte KA, Aspelund T, Putman RK, Sanders JL, Gudmundsson EF, Hatabu H, Gudmundsdottir V, Gudjonsson A, Hino T, Hida T, Hobbs BD, Cho MH, Silverman EK, Bowler RP, Launer LJ, Jennings LL, Hunninghake GM, Emilsson V, Gudnason V
Am J Respir Crit Care Med 2022 Aug 1;206(3):337-346. doi: 10.1164/rccm.202110-2296OC. PMID: 35438610Free PMC Article
Reticulation Is a Risk Factor of Progressive Subpleural Nonfibrotic Interstitial Lung Abnormalities.
Zhang Y, Wan H, Richeldi L, Zhu M, Huang Y, Xiong X, Liao J, Zhu W, Mao L, Xu L, Ye D, Chen L, Liu J, Fu L, Li L, Lan L, Li P, Wang L, Tang X, Luo F
Am J Respir Crit Care Med 2022 Jul 15;206(2):178-185. doi: 10.1164/rccm.202110-2412OC. PMID: 35426779
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
Scimitar syndrome.
Ielasi A, Latib A, Agricola E, Montorfano M, Colombo A
J Cardiovasc Med (Hagerstown) 2011 Mar;12(3):176-7. doi: 10.2459/JCM.0b013e328332f3e2. PMID: 20093947

Recent systematic reviews

Prevalence and clinical presentation of long COVID in children: a systematic review.
Pellegrino R, Chiappini E, Licari A, Galli L, Marseglia GL
Eur J Pediatr 2022 Dec;181(12):3995-4009. Epub 2022 Sep 15 doi: 10.1007/s00431-022-04600-x. PMID: 36107254Free PMC Article
Airway Ultrasound as Predictor of Difficult Direct Laryngoscopy: A Systematic Review and Meta-analysis.
Carsetti A, Sorbello M, Adrario E, Donati A, Falcetta S
Anesth Analg 2022 Apr 1;134(4):740-750. doi: 10.1213/ANE.0000000000005839. PMID: 34914641Free PMC Article
Selective serotonin reuptake inhibitor use during early pregnancy and congenital malformations: a systematic review and meta-analysis of cohort studies of more than 9 million births.
Gao SY, Wu QJ, Sun C, Zhang TN, Shen ZQ, Liu CX, Gong TT, Xu X, Ji C, Huang DH, Chang Q, Zhao YH
BMC Med 2018 Nov 12;16(1):205. doi: 10.1186/s12916-018-1193-5. PMID: 30415641Free PMC Article
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics
Am J Respir Crit Care Med 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515Free PMC Article
The patient's experience of primary ciliary dyskinesia: a systematic review.
Behan L, Rubbo B, Lucas JS, Dunn Galvin A
Qual Life Res 2017 Sep;26(9):2265-2285. Epub 2017 Mar 30 doi: 10.1007/s11136-017-1564-y. PMID: 28361274Free PMC Article

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