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2017-05-03  Proximal femoral deficiency syndrome, bilateral  © Fabrice Cuillier  www.TheFetus.net

Proximal femoral deficiency syndrome, bilateral
Cuillier F.1, MD, Balu M.2, MD, Alessandri J.L.3, MD, Doray B., Pr.4  
 
1Department of Gynecology, Hôpital Félix Guyon, Saint-Denis, Reunion Island, France.  
2Department of Radiology, Hôpital Félix Guyon, Saint-Denis, Reunion Island, France.  
3Department of Neonatology, Hôpital Félix Guyon, Saint-Denis, Reunion Island, France.  
4Department of Genetic, Hôpital Félix Guyon, Saint-Denis, Reunion Island, France.  

 

Case report

A 36-year old woman (G4P3) with unremarkable history was sent to our unit because of a short femur diagnosed in another center. Our ultrasound examination revealed bilateral shortened and curved femur without signs of fracture.
No other skeletal anomalies were found.
We suggested the diagnosis of isolated bilateral proximal femoral focal deficiency, without ruling out osteogenesis imperfecta. The parents opted for termination of the pregnancy.
Our diagnosis was confirmed during the postnatal period. No signs of osteogenesis imperfecta were found.

 
Images 1 and 2: 2D and 3D images showing normal fetal profile.  

 



Images 3, 4, 5 and 6: 2D views at 22 weeks of gestation. Note the length of the right and left femur, curved.  

  


 
Images 7 : 2D view at 22 weeks of gestation showing normal radius and ulna. 

 


Images 8 and 9:  
normal 2D views of right and left humerus. 

 


 
Images 10 and 11: 2D view at 22 weeks of gestation showing normal tibia and fibula. 

 


 
Images 12:  2D normal view of the spine.   

 


Images 13, 14 and 15; video 1: 
2D views of the normal hands and normal feet, without polydactyly.  

  
 


Images 16 and 17: 2D views of the right and left femur at 23 weeks of gestation.

 
 


Images 18 and 19:
2D views of the right and left femur at 24 weeks of gestation.

 
 


Images 20, 21 and 22: CT scan images confirmed our findings and the diagnosis of bilateral proximal femoral focal deficiency, the length and the angulation of the left and right femur. Both knees were normal. 

 
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