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2008-09-23-10 Answer to the case of the week #231 © Cuillier www.TheFetus.net


Answer to the case of the week #231

November 7 - November 20, 2008

Fabrice Cuillier, MD*; D. Daguindeau, MD**; J. Bideault, MD**; J. L. Travers, MD***.

*    Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
**   Department of Gynecology, Intercommunal’s Hospital, 97400 Saint-Benois, Ile de la Réunion, France;
***  Department of Radiology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report
 
A 28-year-old woman (G2P1), was referred to our antenatal unit at 24 weeks of her pregnancy due to abnormal fetal femurs. Her first child is two years old, with blue scleras, but so far without any other symptoms or problems. Unfortunately the parents refused any other examinations of the child. 

The husband suffers from a mild form of osteogenesis imperfecta, and experienced his first fractures after his third year of life. He is 38 years old, 162 cm tall, with bluish scleras, and is able to walk normally without any support. He refused a detailed examinations of his disease.

Our ultrasound examination found a fetus with normal facial morphology. Nevertheless, its skull was easy compressible. The right fetal femur was bowed, but without fractures. The left fetal femur seemed to be normal and so were other long bones and pelvis.  The findings were the same at 29 and 32 weeks. A spiraled CT was also performed confirming our presumed diagnosis of the osteogenesis imperfecta type III. Fetal spine seemed to be normal and so was fetal mobility. Karyotyping revealed a normal 46,XX fetus and serological tests (TORCH and Chikungunya infections) were negative. 

The parents refused other investigations and opted for the continuation of the pregnancy. The neonate was delivered by cesarean section and postnatal radiograms confirmed the presumed diagnosis.

Images 1, 2: The images show 3D (Image 1) and 2D (Image 2) scans of the fetal face. No anomalies are seen.

 

Images 3, 4: The images compare considerably curved right femur and just slightly bowed left femur of the fetus.

 

Images 5, 6: The images show normal appearance of other long bones of the fetus.

 

Images 7, 8: The images show curving of the right femur.

 

Image 9: The image shows a transverse scan of the fetal pelvis (the curved right femur is also visible). 

 

Image 10, 11: 3D images of the right (image 10) and left (image 11) femur of the fetus.

 

Images 12, 13: 3D images of the right femur of the fetus.

 

Images 14, 15, 16: Spiral CT of the fetus. 

 

 

Image 17: Postnatal X-ray scans of the fetus. Note the curved femurs, especially the right one.

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