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

Answer to the 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 failed genetic. The second genetic analysis confirmed our suspected diagnosis, Aarskog-Scott syndrome (FGD1 X-Linked mutation).

We obtained the following images and findings in different ultrasound examinations:
  • short rhizomelic bones and deformities of the limbs.  
  • flat faces.
  • hypertelorism.
  • thick corpus callosum.
  • swan neck fingers.
  • bilateral club foot.
  • short humerus and femurs (without other biometric abnormalities).
  • shawl scrotum. 

Images 1-8 ; video 1 - 25 weeks: 2D and 3D images showing thick corpus callosum, hypertelorism, short rhizomelic bones and deformity of the limbs.


Images 9 and 10 ; videos 2, 3 and 4 - 27 weeks: 
2D and 3D images showing mild dysmorphysm and flattening of the face


Images 11-16 ; videos 5 and 6 - 32 weeks:


Postnatal images:
 Foetopathology found no visceral abnormalities and confirmed deformations of hands and feet. The corpus callosum was thick but histology was normal.


Congratulations to Dr. Javier Cortejoso. His answer is not only excellent but also the best one!!!

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