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Pulmonary agenesis

MedGen UID:
82722
Concept ID:
C0265780
Congenital Abnormality
Synonym: Congenital absence of lung
SNOMED CT: Congenital absence of lung (66489009); Apulmonism (66489009); Agenesis of lung (156936000); Aplasia of lung (702612001); Congenital aplasia of lung (702612001); Pulmonary agenesis (156936000)
 
Monarch Initiative: MONDO:0020110
Orphanet: ORPHA984

Definition

A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary agenesis
Follow this link to review classifications for Pulmonary agenesis in Orphanet.

Professional guidelines

PubMed

Haddon MJ, Bowen A
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Recent clinical studies

Therapy

Tanrivermis Sayit A, Elmali M
Surg Radiol Anat 2020 Nov;42(11):1299-1301. Epub 2020 Apr 7 doi: 10.1007/s00276-020-02467-x. PMID: 32266442
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Prognosis

Fukuoka S, Yamamura K, Nagata H, Toyomura D, Nagatomo Y, Eguchi Y, Uike K, Hirata Y, Inoue H, Ochiai M, Ohga S
Pediatr Pulmonol 2022 Dec;57(12):3060-3068. Epub 2022 Sep 16 doi: 10.1002/ppul.26135. PMID: 36069476
Pimenta DA, Aguiar FL, Fernandes BC, Rolo R
BMJ Case Rep 2021 Oct 27;14(10) doi: 10.1136/bcr-2021-245233. PMID: 34706915Free PMC Article
Chawla RK, Madan A, Chawla A, Arora HN, Chawla K
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):251-3. PMID: 27164736
Russell BC, Whitecar P, Nitsche JF
Obstet Gynecol Surv 2014 Jun;69(6):335-45. doi: 10.1097/OGX.0000000000000070. PMID: 25101843
Greenough A, Ahmed T, Broughton S
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Clinical prediction guides

Kim JY, Kim WS, Lee KS, Je BK, Park JE, Ryu YJ, Choi YH, Cheon JE
Korean J Radiol 2021 Oct;22(10):1690-1696. Epub 2021 Jul 1 doi: 10.3348/kjr.2021.0155. PMID: 34269531Free PMC Article
Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium
Am J Med Genet A 2016 Jan;170A(1):11-8. Epub 2015 Sep 16 doi: 10.1002/ajmg.a.37389. PMID: 26373900
Hazekamp MG, Koolbergen DR, Kersten J, Peper J, de Mol B, König-Jung A
Eur J Cardiothorac Surg 2009 Aug;36(2):344-51; discussion 351. Epub 2009 Apr 25 doi: 10.1016/j.ejcts.2009.02.057. PMID: 19394852
Karadeniz L, Guven S, Atay E, Ovali F, Celayir A
J Chin Med Assoc 2009 Mar;72(3):163-5. doi: 10.1016/s1726-4901(09)70045-0. PMID: 19299227
Cunningham ML, Mann N
Am J Med Genet 1997 Jun 27;70(4):391-8. doi: 10.1002/(sici)1096-8628(19970627)70:4<391::aid-ajmg11>3.0.co;2-c. PMID: 9182780

Recent systematic reviews

Fukuoka S, Yamamura K, Nagata H, Toyomura D, Nagatomo Y, Eguchi Y, Uike K, Hirata Y, Inoue H, Ochiai M, Ohga S
Pediatr Pulmonol 2022 Dec;57(12):3060-3068. Epub 2022 Sep 16 doi: 10.1002/ppul.26135. PMID: 36069476
Bannister M
Int J Pediatr Otorhinolaryngol 2017 Jan;92:99-102. Epub 2016 Oct 24 doi: 10.1016/j.ijporl.2016.10.021. PMID: 28012543
Meller CH, Morris RK, Desai T, Kilby MD
J Ultrasound Med 2012 Dec;31(12):2017-23. doi: 10.7863/jum.2012.31.12.2017. PMID: 23197556

Supplemental Content

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