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2019-05-13  Case of the week # 496  © Lusine Karapetyan  www.TheFetus.net

Answer to the case of the week # 496
May 23, 2019 - June 6, 2019

Moscow, Russia

Case report
25 year-old patient (G1P0) with unremarkable family history was sent to our unit for second trimester scan.
First trimester scan was reported to be normal .
We obtained following images and videos.

After birth genetic consulting a mutation in FTL4 gene was found, responsible for Nonne-Milroy disease (hereditary lymphedema, type1). There was revealed pathogenic variant Gly933Arg in the exon 20 in heterozygous condition . Diagnosis was confirmed via the molecular genetic method.


Image 1: 2D image of normal fetal profile.
 



Image 2-5: 2D and 3D images of the fetal foot showing edema of the foot.
    



Image 6: 2D image shows normal male fetus.
  



Video 1: 2D image of normal fetal profile.
 


Video 2 and 3: 2D  images of the fetal foot showing edema of the foot.
  


Video 4: Doppler color image shows normal 4 chamber view.




Image 7: postnatal image confirming prenatal findings.










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