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Enlarged fetal lungs

MedGen UID:
1863806
Concept ID:
C5937368
Congenital Abnormality
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
Geddes EW, Falkson G
Cancer 1973 May;31(5):1216-21. doi: 10.1002/1097-0142(197305)31:5<1216::aid-cncr2820310527>3.0.co;2-5. PMID: 4122301

Recent clinical studies

Etiology

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
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

Diagnosis

Phan TDA, To NT, Pham DTN
Fetal Pediatr Pathol 2023 Apr;42(2):285-290. Epub 2022 Jun 23 doi: 10.1080/15513815.2022.2088911. PMID: 35735187
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
Kassanos D, Christodoulou CN, Agapitos E, Pavlopoulos PM, Pagalos N
Ultrasound Obstet Gynecol 1997 Aug;10(2):133-6. doi: 10.1046/j.1469-0705.1997.10020133.x. PMID: 9286024
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
Nakagawa N, Osanai S, Ide H, Nishigaki Y, Takahashi S, Nakano H, Ohsaki Y, Kikuchi K, Tokusashi Y, Obata H
Intern Med 2003 Dec;42(12):1248-52. doi: 10.2169/internalmedicine.42.1248. PMID: 14714969
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
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

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
Barr M Jr
Am J Med Genet 2001 Jul 15;101(4):328-33. doi: 10.1002/1096-8628(20010715)101:4<328::aid-ajmg1218>3.0.co;2-k. PMID: 11471155
Harrison MR, Adzick NS, Jennings RW, Duncan BW, Rosen MA, Filly RA, Goldberg JD, deLorimier AA, Golbus MS
Lancet 1990 Oct 20;336(8721):965-7. doi: 10.1016/0140-6736(90)92420-m. PMID: 1977005
Allan LD, Crawford DC, Tynan MJ
J Am Coll Cardiol 1986 Nov;8(5):1131-6. doi: 10.1016/s0735-1097(86)80392-8. PMID: 2944940

Clinical prediction guides

Torres X, Bennasar M, Bautista-Rodríguez C, Martínez-Portilla RJ, Gómez O, Micheletti T, Eixarch E, Crispi F, Gratacós E, Martínez JM
Am J Obstet Gynecol 2022 Sep;227(3):502.e1-502.e25. Epub 2022 Mar 26 doi: 10.1016/j.ajog.2022.03.049. PMID: 35351412
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
Lee H, Lee JC, Kwon JH, Kim KC, Cho MS, Yang YS, Oh W, Choi SJ, Seo ES, Lee SJ, Wang TJ, Hong YM
J Korean Med Sci 2015 May;30(5):576-85. Epub 2015 Apr 15 doi: 10.3346/jkms.2015.30.5.576. PMID: 25931788Free PMC Article
McFaul RC, Mair DD, Feldt RH, Ritter DG, McGoon DC
Am J Cardiol 1976 Nov 4;38(5):626-32. doi: 10.1016/s0002-9149(76)80013-6. PMID: 136185

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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