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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

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
Prenatal diagnosis.
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

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
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
Pulmonary sequestration.
Salmons S
Neonatal Netw 2000 Oct;19(7):27-31. doi: 10.1891/0730-0832.19.7.27. PMID: 11949021

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
Choanal atresia.
Skolnik EM, Kotler R, Hanna WA
Otolaryngol Clin North Am 1973 Oct;6(3):783-9. PMID: 4220325
Pulmonary sequestration.
Carter R
Ann Thorac Surg 1969 Jan;7(1):68-88. doi: 10.1016/s0003-4975(10)66147-4. PMID: 4883836

Therapy

Pediatric Airway Balloon Dilation: Urge for Safety Redesign.
Leonard JA, Blumenthal DL, Harley EH, Shah RK
Otolaryngol Head Neck Surg 2024 Mar;170(3):987-988. Epub 2023 Oct 27 doi: 10.1002/ohn.569. PMID: 37890052
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

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
Scimitar syndrome.
Sehgal A, Loughran-Fowlds A
Indian J Pediatr 2005 Mar;72(3):249-51. doi: 10.1007/BF02859268. PMID: 15812123
Pulmonary sequestration.
Salmons S
Neonatal Netw 2000 Oct;19(7):27-31. doi: 10.1891/0730-0832.19.7.27. PMID: 11949021
Choanal atresia.
Skolnik EM, Kotler R, Hanna WA
Otolaryngol Clin North Am 1973 Oct;6(3):783-9. PMID: 4220325

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
More than an atrial septal defect.
Barbosa AR, Dias T, Dias Ferreira N, Fonseca M, Braga P
J Cardiovasc Comput Tomogr 2020 Sep-Oct;14(5):e40-e41. Epub 2018 Dec 22 doi: 10.1016/j.jcct.2018.12.054. PMID: 30611698
Adult form of congenital pulmonary venolobar syndrome.
Esseghaier S, Megdiche I, Aouini R, Zidi A
J Cardiovasc Comput Tomogr 2018 Mar-Apr;12(2):170-171. Epub 2018 Feb 3 doi: 10.1016/j.jcct.2018.01.009. PMID: 29398566

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
Fluoxetine and congenital malformations: a systematic review and meta-analysis of cohort studies.
Gao SY, Wu QJ, Zhang TN, Shen ZQ, Liu CX, Xu X, Ji C, Zhao YH
Br J Clin Pharmacol 2017 Oct;83(10):2134-2147. Epub 2017 Jun 10 doi: 10.1111/bcp.13321. PMID: 28513059Free PMC Article

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