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2015-09-20-22 Case of the week #405 © Cuillier www.TheFetus.net 


Case of the week #405

October 8, 2015 - October 22, 2015

Fabrice Cuillier, MD1;  J. L. Alessandri, MD2; B Doray, MD3; M. Balu, MD4.    

1. Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
2. Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
3. Department of Genetic, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
4. Department of Radiology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 


Suspicion of some diagnoses sometime requires additional information observed or obtained from parents or from medical reports. Ultrasonographic examination may be very limited or poor in findings, but with the additional information, some diagnoses may be guessed. This case represents such condition and so we left some hints in the case report to help you find the correct answer.


Case report


A 42-year-old woman (G4P1) presented to our office at 30 weeks of pregnancy. Her previous nuchal translucency screening was reported to be normal (NT 1 mm, CRL 62 mm). Triple test was not done.


At the beginning of our meeting we noticed very weak handgrip of the mother. Following examination of the fetus revealed following findings:

- weak, sporadic swallowing of the fetus with only small filling of the stomach and mild polyhydramnios;

- motionless face of the fetus with thick philtrum and anteverted nostrils;

- hands with motionless fingers;

- normal cardiac morphology with normal rhythm;

- the fetus was hypokinetic during the whole examination.

Following amniocentesis found normal karyotype (46, XY) but further molecular genetic testing revealed an interesting anomaly. 

Here are some of the images that we obtained:

Images 1, 2:

 

Images 3, 4, 5, 6, 7, and 8: Fetal face - the face was motionless during the scan.

 

 

 

Images 9, 10, 11, 12:

 

 

Images 13, 14: Normal cardiac morphology (dysrhythmia was not present in our case).

 

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

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