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Primary pulmonary hypoplasia

MedGen UID:
141589
•Concept ID:
C0456891
•
Congenital Abnormality
Synonym: Familial primary pulmonary hypoplasia
SNOMED CT: Idiopathic pulmonary hypoplasia (277656005); Primary pulmonary hypoplasia (277656005)
 
Monarch Initiative: MONDO:0009936
OMIM®: 265430
Orphanet: ORPHA2257

Definition

Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue unrelated to an underlying disorder (Langer and Kaufmann, 1986). [from OMIM]

Clinical features

From HPO
Pulmonary hypoplasia
MedGen UID:
78574
•Concept ID:
C0265783
•
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary pulmonary hypoplasia

Professional guidelines

PubMed

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
AGA Clinical Practice Update: Coagulation in Cirrhosis.
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505

Recent clinical studies

Diagnosis

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA
Cold Spring Harb Mol Case Stud 2019 Jun;5(3) Epub 2019 Jun 3 doi: 10.1101/mcs.a003699. PMID: 30819764Free PMC Article
Unilateral primary lung hypoplasia diagnosed in adulthood.
Katsenos S, Antonogiannaki EM, Tsintiris K
Respir Care 2014 Apr;59(4):e47-50. Epub 2013 Sep 11 doi: 10.4187/respcare.02740. PMID: 24026186
Prenatal diagnosis of primary pulmonary hypoplasia in fraternal twins.
Chen S, Ursell PC, Adatia I, Hislop AA, Giannikopoulos P, Hornberger LK
Ultrasound Obstet Gynecol 2010 Jan;35(1):113-6. doi: 10.1002/uog.7520. PMID: 20033995
Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results.
Langer R, Kaufmann HJ
Pediatr Radiol 1986;16(3):175-9. doi: 10.1007/BF02456280. PMID: 3703590
Primary pulmonary hypoplasia.
Levin DL
J Pediatr 1979 Oct;95(4):550-1. doi: 10.1016/s0022-3476(79)80760-x. PMID: 480029

Therapy

Left lung hypoplasia with a right tuberculous pleural effusion after childbirth: A case report.
Lin S, Guan W, LaZhou C, Shi Y
Medicine (Baltimore) 2018 May;97(21):e10868. doi: 10.1097/MD.0000000000010868. PMID: 29794790Free PMC Article

Prognosis

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA
Cold Spring Harb Mol Case Stud 2019 Jun;5(3) Epub 2019 Jun 3 doi: 10.1101/mcs.a003699. PMID: 30819764Free PMC Article
A case of congenital Echovirus 11 infection acquired early in pregnancy.
Tassin M, Martinovic J, Mirand A, Peigue-Lafeuille H, Picone O, Benachi A, Vauloup-Fellous C
J Clin Virol 2014 Jan;59(1):71-3. Epub 2013 Nov 9 doi: 10.1016/j.jcv.2013.11.003. PMID: 24332364
Primary pulmonary hypoplasia: a case report and review of the literature.
Odd DE, Battin MR, Hallam L, Knight DB
J Paediatr Child Health 2003 Aug;39(6):467-9. doi: 10.1046/j.1440-1754.2003.00191.x. PMID: 12919504
Congenital acinar dysplasia. Familial cause of a fatal respiratory failure in a neonate.
Al-Senan KA, Kattan AK, Al-Dayel FH
Saudi Med J 2003 Jan;24(1):88-90. PMID: 12590284

Clinical prediction guides

Left lung hypoplasia with a right tuberculous pleural effusion after childbirth: A case report.
Lin S, Guan W, LaZhou C, Shi Y
Medicine (Baltimore) 2018 May;97(21):e10868. doi: 10.1097/MD.0000000000010868. PMID: 29794790Free PMC Article
A case of congenital Echovirus 11 infection acquired early in pregnancy.
Tassin M, Martinovic J, Mirand A, Peigue-Lafeuille H, Picone O, Benachi A, Vauloup-Fellous C
J Clin Virol 2014 Jan;59(1):71-3. Epub 2013 Nov 9 doi: 10.1016/j.jcv.2013.11.003. PMID: 24332364
Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results.
Langer R, Kaufmann HJ
Pediatr Radiol 1986;16(3):175-9. doi: 10.1007/BF02456280. PMID: 3703590

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
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