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2019-04-26  Case of the week # 495  © Fabien Ho

Answer of the case of the week # 495
May 9, 2019 - May 23, 2019

Dr Ho F.1, Dr Cuillier F.2, Pr Doray B3

1. Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France. ?
2. Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.?
3. Department of Genetics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France. ?

Case report

Regular smoking and severe chronic alcohol consumption several times per week (>500mL of rhum + more than 5 beers everytime), until 20 weeks of gestational age when she was sent to our unit. 

First morphological scan at a late period of time was at 25 weeks of pregnancy.
Our US examination at 30 weeks of gestational age revealed the following anomalies:

Image 1: biometry: no IUGR. Large head >97 percentile.


Images 2 to 8subjectively round skull, with flattened forehead, normal nasal bones and normal prefrontal thickness. Philtrum may seem long and round and bilateral ventricular dilation, revealing a complete agenesis of the corpus callosum.


Images 9 and 10: hyperechoic kidneys, with normal size, borders, and without pyelocaliceal dilation.


Image 11: small conotruncal ventricular septal small defect.


Image 12: polyhydramnios.

Image 13: the external ear seemed normal.

We performed an amniocentesis, which showed a normal 46XY caryotype. 
Infectious diseases such as CMV and toxoplasmosis and others were ruled out.

We therefore diagnosed a fetal alcohol syndrome. 
The absence of IGUR might be related to the discontinuation of alcohol uptake since 20 weeks of gestational age.
The parents chose to continue the pregnancy.


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