Search :     
2016-02-06  Case of the week # 418  © Emmanuel Julien

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.


When you have tried to solve the case on your own (no team work here please !) you can find the Answer here.

Help Support :