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Prenatal flattened diaphragm

MedGen UID:
1864207
•Concept ID:
C5937135
•
Congenital Abnormality
HPO: HP:6000340

Definition

The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrenatal flattened diaphragm

Professional guidelines

PubMed

Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.
Nguyen GV, Goncalves LF, Vaughn J, Friedman N, Wickland J, Cornejo P
Pediatr Radiol 2023 Sep;53(10):2144-2148. Epub 2023 Jul 10 doi: 10.1007/s00247-023-05712-8. PMID: 37423914

Recent clinical studies

Etiology

Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.
Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM
Korean J Radiol 2009 Mar-Apr;10(2):129-34. Epub 2009 Mar 3 doi: 10.3348/kjr.2009.10.2.129. PMID: 19270858Free PMC Article

Diagnosis

Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.
Nguyen GV, Goncalves LF, Vaughn J, Friedman N, Wickland J, Cornejo P
Pediatr Radiol 2023 Sep;53(10):2144-2148. Epub 2023 Jul 10 doi: 10.1007/s00247-023-05712-8. PMID: 37423914
Death Shortly after Delivery Caused by Congenital High Airway Obstruction Syndrome.
Lupariello F, Di Vella G, Botta G
Fetal Pediatr Pathol 2020 Apr;39(2):179-183. Epub 2019 Jul 25 doi: 10.1080/15513815.2019.1644688. PMID: 31342827
An antenatal diagnosis: Congenital high airway obstruction.
Miital S, Mittal A, Singal R, Singal S, Sekhon G
Ann Card Anaesth 2017 Jul-Sep;20(3):335-336. doi: 10.4103/0971-9784.210407. PMID: 28701601Free PMC Article
Locating the Level and Extent of Congenital High Airway Obstruction: Fluid in the Airway Tract as Reference Points.
Gowda M, Gupta S, Ali A, Paranthaman S
J Ultrasound Med 2017 Oct;36(10):2179-2185. Epub 2017 Jun 6 doi: 10.1002/jum.14273. PMID: 28586146
Congenital high airway obstruction syndrome.
Hamid-Sowinska A, Ropacka-Lesiak M, Breborowicz GH
Neuro Endocrinol Lett 2011;32(5):623-6. PMID: 22167132

Prognosis

Locating the Level and Extent of Congenital High Airway Obstruction: Fluid in the Airway Tract as Reference Points.
Gowda M, Gupta S, Ali A, Paranthaman S
J Ultrasound Med 2017 Oct;36(10):2179-2185. Epub 2017 Jun 6 doi: 10.1002/jum.14273. PMID: 28586146
Congenital high airway obstruction syndrome.
Hamid-Sowinska A, Ropacka-Lesiak M, Breborowicz GH
Neuro Endocrinol Lett 2011;32(5):623-6. PMID: 22167132
Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.
Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM
Korean J Radiol 2009 Mar-Apr;10(2):129-34. Epub 2009 Mar 3 doi: 10.3348/kjr.2009.10.2.129. PMID: 19270858Free PMC Article
Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention.
Hedrick MH, Ferro MM, Filly RA, Flake AW, Harrison MR, Adzick NS
J Pediatr Surg 1994 Feb;29(2):271-4. doi: 10.1016/0022-3468(94)90331-x. PMID: 8176604
Antenatal sonographic findings associated with unilateral pulmonary agenesis.
Yancey MK, Richards DS
Obstet Gynecol 1993 May;81(5 ( Pt 2)):847-9. PMID: 8469495

Clinical prediction guides

Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.
Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM
Korean J Radiol 2009 Mar-Apr;10(2):129-34. Epub 2009 Mar 3 doi: 10.3348/kjr.2009.10.2.129. PMID: 19270858Free PMC Article
More or less CHAOS: case report and literature review suggesting the existence of a distinct subtype of congenital high airway obstruction syndrome.
Vidaeff AC, Szmuk P, Mastrobattista JM, Rowe TF, Ghelber O
Ultrasound Obstet Gynecol 2007 Jul;30(1):114-7. doi: 10.1002/uog.4007. PMID: 17523130
Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention.
Hedrick MH, Ferro MM, Filly RA, Flake AW, Harrison MR, Adzick NS
J Pediatr Surg 1994 Feb;29(2):271-4. doi: 10.1016/0022-3468(94)90331-x. PMID: 8176604

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