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Hypoplasia of the diaphragm

MedGen UID:
868082
•Concept ID:
C4022473
•
Anatomical Abnormality
Synonym: Underdeveloped diaphragm
 
HPO: HP:0040044

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the diaphragm

Conditions with this feature

Cutis laxa, autosomal recessive, type 1B
MedGen UID:
482428
•Concept ID:
C3280798
•
Disease or Syndrome
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
See: Condition Record
Cutis laxa, autosomal recessive, type 1B

Professional guidelines

PubMed

Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Assessment and management of breathlessness.
Altose MD
Chest 1985 Aug;88(2 Suppl):77S-83S. doi: 10.1378/chest.88.2_supplement.77s. PMID: 3926399

Recent clinical studies

Etiology

Congenital diaphragmatic hernia.
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
MRI of the Pancreas.
Harrington KA, Shukla-Dave A, Paudyal R, Do RKG
J Magn Reson Imaging 2021 Feb;53(2):347-359. Epub 2020 Apr 17 doi: 10.1002/jmri.27148. PMID: 32302044
Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403
Congenital diaphragmatic hernia.
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. PMID: 24528549
Porous diaphragm syndromes.
Kirschner PA
Chest Surg Clin N Am 1998 May;8(2):449-72. PMID: 9619316

Diagnosis

Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
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
Hiatal hernias.
Dean C, Etienne D, Carpentier B, Gielecki J, Tubbs RS, Loukas M
Surg Radiol Anat 2012 May;34(4):291-9. Epub 2011 Nov 22 doi: 10.1007/s00276-011-0904-9. PMID: 22105688
Taurodontism in premolars.
Llamas R, Jimenez-Planas A
Oral Surg Oral Med Oral Pathol 1993 Apr;75(4):501-5. doi: 10.1016/0030-4220(93)90179-8. PMID: 8464617

Therapy

Congenital diaphragmatic hernia.
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Fetal intervention for congenital diaphragmatic hernia.
Kovler ML, Jelin EB
Semin Pediatr Surg 2019 Aug;28(4):150818. Epub 2019 Jul 18 doi: 10.1053/j.sempedsurg.2019.07.001. PMID: 31451175
Contraception during perimenopause.
Kailas NA, Sifakis S, Koumantakis E
Eur J Contracept Reprod Health Care 2005 Mar;10(1):19-25. doi: 10.1080/13625180400020861. PMID: 16036294
Retinoids and contraception.
Ceyrac DL, Serfaty D, Lefrancq H
Dermatology 1992;184(3):161-70. doi: 10.1159/000247534. PMID: 1392106
Antifertility agents.
Tyler ET
Annu Rev Pharmacol 1967;7:381-98. doi: 10.1146/annurev.pa.07.040167.002121. PMID: 5337087

Prognosis

Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403
Fetal intervention for congenital diaphragmatic hernia.
Kovler ML, Jelin EB
Semin Pediatr Surg 2019 Aug;28(4):150818. Epub 2019 Jul 18 doi: 10.1053/j.sempedsurg.2019.07.001. PMID: 31451175
Congenital diaphragmatic hernia.
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. PMID: 24528549
Ectopia cordis.
Puvabanditsin S, Di Stefano V, Garrow E, Wong R, Eng J, Balbin J
Hong Kong Med J 2013 Oct;19(5):447-50. doi: 10.12809/hkmj133737. PMID: 24088589
Congenital diaphragmatic hernia.
Tovar JA
Orphanet J Rare Dis 2012 Jan 3;7:1. doi: 10.1186/1750-1172-7-1. PMID: 22214468Free PMC Article

Clinical prediction guides

Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403
Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
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
Contraception during the perimenopause.
Baldwin MK, Jensen JT
Maturitas 2013 Nov;76(3):235-42. Epub 2013 Aug 8 doi: 10.1016/j.maturitas.2013.07.009. PMID: 23932427
Taurodontism in premolars.
Llamas R, Jimenez-Planas A
Oral Surg Oral Med Oral Pathol 1993 Apr;75(4):501-5. doi: 10.1016/0030-4220(93)90179-8. PMID: 8464617

Recent systematic reviews

Intradiaphragmatic Bronchogenic Cysts: Case Report and Systematic Review.
Mubang R, Brady JJ, Mao M, Burfeind W, Puc M
J Cardiothorac Surg 2016 May 5;11(1):79. doi: 10.1186/s13019-016-0444-9. PMID: 27150959Free PMC Article
Uterine cavity calcifications: a report of 7 cases and a systematic literature review.
Pereira MC, Vaz MM, Miranda SP, Araújo SR, Menezes DB, das Chagas Medeiros F
J Minim Invasive Gynecol 2014 May-Jun;21(3):346-52. Epub 2013 Nov 25 doi: 10.1016/j.jmig.2013.11.001. PMID: 24287059
Hemoglobin measurement prior to initiating copper intrauterine devices: a systematic review.
Tepper NK, Steenland MW, Marchbanks PA, Curtis KM
Contraception 2013 May;87(5):639-44. Epub 2012 Oct 4 doi: 10.1016/j.contraception.2012.08.008. PMID: 23040123
Ultrasound-guided hysteroscopy to remove a levonorgestrel intrauterine system in early pregnancy.
McCarthy EA, Jagasia N, Maher P, Robinson M
Contraception 2012 Nov;86(5):587-90. Epub 2012 Apr 11 doi: 10.1016/j.contraception.2012.03.004. PMID: 22497757

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