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Respiratory malformation

MedGen UID:
1842212
•Concept ID:
C5680590
•
Congenital Abnormality
Orphanet: ORPHA182111

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRespiratory malformation

Professional guidelines

PubMed

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
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
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article

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
Hydroxychloroquine early in pregnancy and risk of birth defects.
Huybrechts KF, Bateman BT, Zhu Y, Straub L, Mogun H, Kim SC, Desai RJ, Hernandez-Diaz S
Am J Obstet Gynecol 2021 Mar;224(3):290.e1-290.e22. Epub 2020 Sep 19 doi: 10.1016/j.ajog.2020.09.007. PMID: 32961123Free PMC Article
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
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

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
Hydroxychloroquine early in pregnancy and risk of birth defects.
Huybrechts KF, Bateman BT, Zhu Y, Straub L, Mogun H, Kim SC, Desai RJ, Hernandez-Diaz S
Am J Obstet Gynecol 2021 Mar;224(3):290.e1-290.e22. Epub 2020 Sep 19 doi: 10.1016/j.ajog.2020.09.007. PMID: 32961123Free PMC Article
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Therapy

Efficacy of nirsevimab against respiratory syncytial virus lower respiratory tract infections in preterm and term infants, and pharmacokinetic extrapolation to infants with congenital heart disease and chronic lung disease: a pooled analysis of randomised controlled trials.
Simões EAF, Madhi SA, Muller WJ, Atanasova V, Bosheva M, Cabañas F, Baca Cots M, Domachowske JB, Garcia-Garcia ML, Grantina I, Nguyen KA, Zar HJ, Berglind A, Cummings C, Griffin MP, Takas T, Yuan Y, Wählby Hamrén U, Leach A, Villafana T
Lancet Child Adolesc Health 2023 Mar;7(3):180-189. Epub 2023 Jan 9 doi: 10.1016/S2352-4642(22)00321-2. PMID: 36634694Free PMC Article
Current and Future Treatments in Primary Ciliary Dyskinesia.
Paff T, Omran H, Nielsen KG, Haarman EG
Int J Mol Sci 2021 Sep 11;22(18) doi: 10.3390/ijms22189834. PMID: 34575997Free PMC Article
Hydroxychloroquine early in pregnancy and risk of birth defects.
Huybrechts KF, Bateman BT, Zhu Y, Straub L, Mogun H, Kim SC, Desai RJ, Hernandez-Diaz S
Am J Obstet Gynecol 2021 Mar;224(3):290.e1-290.e22. Epub 2020 Sep 19 doi: 10.1016/j.ajog.2020.09.007. PMID: 32961123Free 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
Antipsychotic use in pregnancy.
Kulkarni J, Storch A, Baraniuk A, Gilbert H, Gavrilidis E, Worsley R
Expert Opin Pharmacother 2015 Jun;16(9):1335-45. doi: 10.1517/14656566.2015.1041501. PMID: 26001182

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
Esophageal Atresia and Respiratory Morbidity.
Lejeune S, Sfeir R, Rousseau V, Bonnard A, Gelas T, Aumar M, Panait N, Rabattu PY, Irtan S, Fouquet V, Le Mandat A, Cocci SN, Habonimana E, Lamireau T, Lemelle JL, Elbaz F, Talon I, Boudaoud N, Allal H, Buisson P, Petit T, Sapin E, Lardy H, Schmitt F, Levard G, Scalabre A, Michel JL, Jaby O, Pelatan C, De Vries P, Borderon C, Fourcade L, Breaud J, Arnould M, Tolg C, Chaussy Y, Geiss S, Laplace C, Drumez E, El Mourad S, Thumerelle C, Gottrand F
Pediatrics 2021 Sep;148(3) Epub 2021 Aug 19 doi: 10.1542/peds.2020-049778. PMID: 34413249
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
Campomelic dysplasia.
Jain V, Sen B
J Pediatr Orthop B 2014 Sep;23(5):485-8. doi: 10.1097/BPB.0000000000000058. PMID: 24800790
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free 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
Esophageal Atresia and Respiratory Morbidity.
Lejeune S, Sfeir R, Rousseau V, Bonnard A, Gelas T, Aumar M, Panait N, Rabattu PY, Irtan S, Fouquet V, Le Mandat A, Cocci SN, Habonimana E, Lamireau T, Lemelle JL, Elbaz F, Talon I, Boudaoud N, Allal H, Buisson P, Petit T, Sapin E, Lardy H, Schmitt F, Levard G, Scalabre A, Michel JL, Jaby O, Pelatan C, De Vries P, Borderon C, Fourcade L, Breaud J, Arnould M, Tolg C, Chaussy Y, Geiss S, Laplace C, Drumez E, El Mourad S, Thumerelle C, Gottrand F
Pediatrics 2021 Sep;148(3) Epub 2021 Aug 19 doi: 10.1542/peds.2020-049778. PMID: 34413249
Hydroxychloroquine early in pregnancy and risk of birth defects.
Huybrechts KF, Bateman BT, Zhu Y, Straub L, Mogun H, Kim SC, Desai RJ, Hernandez-Diaz S
Am J Obstet Gynecol 2021 Mar;224(3):290.e1-290.e22. Epub 2020 Sep 19 doi: 10.1016/j.ajog.2020.09.007. PMID: 32961123Free PMC Article
Laryngomalacia, Tracheomalacia and Bronchomalacia.
Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320
Accessory hemi diaphragm.
Radhakrishnan J, Bean J, Piazza DJ, Chin AC
J Pediatr Surg 2014 Aug;49(8):1326-31. doi: 10.1016/j.jpedsurg.2014.03.005. PMID: 25092100

Recent systematic reviews

Systematic literature review of the signs and symptoms of respiratory syncytial virus.
Colosia A, Costello J, McQuarrie K, Kato K, Bertzos K
Influenza Other Respir Viruses 2023 Feb;17(2):e13100. Epub 2023 Feb 5 doi: 10.1111/irv.13100. PMID: 36824394Free PMC Article
Inflammatory and vascular biomarkers in post-COVID-19 syndrome: A systematic review and meta-analysis of over 20 biomarkers.
Yong SJ, Halim A, Halim M, Liu S, Aljeldah M, Al Shammari BR, Alwarthan S, Alhajri M, Alawfi A, Alshengeti A, Khamis F, Alsalman J, Alshukairi AN, Abukhamis NA, Almaghrabi FS, Almuthree SA, Alsulaiman AM, Alshehail BM, Alfaraj AH, Alhawaj SA, Mohapatra RK, Rabaan AA
Rev Med Virol 2023 Mar;33(2):e2424. Epub 2023 Jan 27 doi: 10.1002/rmv.2424. PMID: 36708022
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
Does This Child Have Pneumonia?: The Rational Clinical Examination Systematic Review.
Shah SN, Bachur RG, Simel DL, Neuman MI
JAMA 2017 Aug 1;318(5):462-471. doi: 10.1001/jama.2017.9039. PMID: 28763554
Swaddling: a systematic review.
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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