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Enlarged fetal lungs

MedGen UID:
1053128
Concept ID:
CN377445
Finding
HPO: HP:6000613

Definition

The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnlarged fetal lungs

Conditions with this feature

Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.

Professional guidelines

PubMed

Suda-Całus M, Dąbrowska K, Gulczyńska E
Pediatr Endocrinol Diabetes Metab 2024;30(1):36-41. doi: 10.5114/pedm.2024.137891. PMID: 39026477Free PMC Article
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429
Bartley JA, Golbus MS, Filly RA, Hall BD
Clin Genet 1977 May;11(5):375-8. doi: 10.1111/j.1399-0004.1977.tb01330.x. PMID: 862215

Recent clinical studies

Etiology

Tsuchida T, Murata S, Matsuki K, Mori A, Matsuo M, Mikami S, Okamoto S, Ueno Y, Tadokoro T, Zheng YW, Taniguchi H
Int J Mol Sci 2019 Dec 26;21(1) doi: 10.3390/ijms21010178. PMID: 31887985Free PMC Article
Taniyama D, Kamata H, Miyamoto K, Mashimo S, Sakamaki F
Am J Case Rep 2017 Dec 30;18:1401-1406. doi: 10.12659/AJCR.905860. PMID: 29301140Free PMC Article
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429
Abman SH
Arch Dis Child Fetal Neonatal Ed 2002 Jul;87(1):F15-8. doi: 10.1136/fn.87.1.f15. PMID: 12091282Free PMC Article
Naeye RL, Blanc WA
Am J Pathol 1972 Apr;67(1):95-108. PMID: 4558222Free PMC Article

Diagnosis

Bonasoni MP, Comitini G, Tonni G, Asioli S, Barbieri V, Rinaldini M, Marinelli M
Fetal Pediatr Pathol 2022 Jun;41(3):516-522. Epub 2020 Oct 14 doi: 10.1080/15513815.2020.1831660. PMID: 33411590
Chandrasekaran P, Goergen S, Robinson A, Moghimi A, Malhotra A
BMJ Case Rep 2021 Apr 15;14(4) doi: 10.1136/bcr-2021-242228. PMID: 33858905Free PMC Article
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429
Gao Y, Raj JU
Am J Physiol Lung Cell Mol Physiol 2005 Feb;288(2):L213-26. doi: 10.1152/ajplung.00103.2004. PMID: 15640520
Randall PA, Heitzman ER, Bull MJ, Scalzetti EM, Williams SK, Gordon LP, Markarian B
Radiographics 1989 Sep;9(5):905-27. doi: 10.1148/radiographics.9.5.2678297. PMID: 2678297

Therapy

Tsuchida T, Murata S, Matsuki K, Mori A, Matsuo M, Mikami S, Okamoto S, Ueno Y, Tadokoro T, Zheng YW, Taniguchi H
Int J Mol Sci 2019 Dec 26;21(1) doi: 10.3390/ijms21010178. PMID: 31887985Free PMC Article
Vasavan T, Ferraro E, Ibrahim E, Dixon P, Gorelik J, Williamson C
Biochim Biophys Acta Mol Basis Dis 2018 Apr;1864(4 Pt B):1345-1355. Epub 2018 Jan 6 doi: 10.1016/j.bbadis.2017.12.039. PMID: 29317337
Abman SH
Arch Dis Child Fetal Neonatal Ed 2002 Jul;87(1):F15-8. doi: 10.1136/fn.87.1.f15. PMID: 12091282Free PMC Article
Skelton R, Gill AB, Parsons JM
Arch Dis Child Fetal Neonatal Ed 1998 Mar;78(2):F133-7. doi: 10.1136/fn.78.2.f133. PMID: 9577285Free PMC Article
Evans N
Arch Dis Child Fetal Neonatal Ed 1994 Jan;70(1):F25-30. doi: 10.1136/fn.70.1.f25. PMID: 8117123Free PMC Article

Prognosis

Brock KE, Wall J, Esquivel M, Newman B, Marina N, Albanese C, Hazard FK
Ann Clin Lab Sci 2015 Winter;45(1):83-9. PMID: 25696016
Bonnefoy C, Blanc P, Coste K, Delabaere A, Dechelotte PJ, Laurichesse-Delmas H, Labbe A, Jacquetin B, Lemery D, Sapin V, Gallot D
Ultrasound Obstet Gynecol 2011 Jan;37(1):110-2. doi: 10.1002/uog.8838. PMID: 20878667
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429
Yinon Y, Kelly E, Ryan G
Best Pract Res Clin Obstet Gynaecol 2008 Feb;22(1):77-96. doi: 10.1016/j.bpobgyn.2007.09.004. PMID: 18280793
Muller WH Jr
Am J Surg 1978 Mar;135(3):302-11. doi: 10.1016/0002-9610(78)90057-0. PMID: 626311

Clinical prediction guides

Tsuchida T, Murata S, Matsuki K, Mori A, Matsuo M, Mikami S, Okamoto S, Ueno Y, Tadokoro T, Zheng YW, Taniguchi H
Int J Mol Sci 2019 Dec 26;21(1) doi: 10.3390/ijms21010178. PMID: 31887985Free PMC Article
Vasavan T, Ferraro E, Ibrahim E, Dixon P, Gorelik J, Williamson C
Biochim Biophys Acta Mol Basis Dis 2018 Apr;1864(4 Pt B):1345-1355. Epub 2018 Jan 6 doi: 10.1016/j.bbadis.2017.12.039. PMID: 29317337
Brock KE, Wall J, Esquivel M, Newman B, Marina N, Albanese C, Hazard FK
Ann Clin Lab Sci 2015 Winter;45(1):83-9. PMID: 25696016
Bonnefoy C, Blanc P, Coste K, Delabaere A, Dechelotte PJ, Laurichesse-Delmas H, Labbe A, Jacquetin B, Lemery D, Sapin V, Gallot D
Ultrasound Obstet Gynecol 2011 Jan;37(1):110-2. doi: 10.1002/uog.8838. PMID: 20878667
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429

Recent systematic reviews

Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429

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