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2016-02-06  Case of the week # 418  © Emmanuel Julien www.TheFetus.net

Case of the week # 418
April 14, 2016 - April 28, 2016.

Emmanuel Julien, MD.

- Centre hospitalier Le Mans, France.

 

Case report

This is a case of a non consanguineous couple. Her first pregnancy was a girl who was born with mild intrauterine growth restriction without associated anomalies.

The next two pregnancies were males. We followed these pregnancies and we found multiple anomalies suggesting a syndromic disease. 
Due to probabilities of poor postnatal prognosis, the parents opted for termination of pregnancy.
 
After the first autopsy no genetic clue was found because of a defective genetic culture. The second genetic analysis confirmed our suspected diagnosis.

We obtained the following images in different ultrasound examinations:


 

Images 1-8; Video 1 - 25 Weeks.

 
    




Images 9 and 10 ; videos 2, 3 and 4 - 27 Weeks.

 
 




Images 11-16 ; videos 5 and 6 - 32 Weeks.


     
 

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