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2016-09-03  Unilateral femoral hypoplasia (two cases)  © Fabrice Cuillier  www.TheFetus.net

Unilateral femoral hypoplasia (two cases)
Dr Cuillier F.1,  Dr Chapeau J.1, Dr Alessandri J.L.2, Dr Doray B.3, Dr Balu M4.     

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.

 

Case report 1:

A 26-year old woman (G1P0) was referred to our department at 26 weeks of pregnancy. The course of the pregnancy was uneventful. Her first ultrasound examination at 12 weeks of gestational age was normal and the nuchal translucency was within normal range (normal triple test).

At 26 weeks pf pregnancy an ultrasound examination revealed a short and angulated left femur without signs of fracture (confirmed by CT scan). The other long bones were normal as the fetal biometry.

At 27 and 30 weeks of pregnancy we measured a significant difference between the length of the fetal femurs and postnatal X-ray confirmed the finding. 

The final diagnosis was isolated left unilateral proximal femoral focal deficiency. The diagnosis was confirmed during the postnatal period.

 

Images 1, 2; videos 1, 2: 2D images showing the difference between the lengths of the fetal femurs and the angulation of the left fetal femur. 

 
 



Images 3, 4 and 5; video 3: 
2D and 3D images showing the difference between the lengths of the fetal femurs and the angulation of the left fetal femur. Both knees were normal.

  



Images 6 and 7:
2D and 3D images showing normal fetal profile.

 



Images 8 and 9: computed tomography scan confirmed our findings and the diagnosis of isolated left unilateral proximal femoral focal deficiency.

 




Case report 2:  

A 22-year old woman (G1P0) was referred to our department at 22 weeks of pregnancy. The course of the pregnancy was uneventful. The patient didn’t have any maternal infectious diseases. Her first ultrasound examination at 12 weeks was normal, and the nuchal translucency was in normal range (normal triple test). 

At 22 weeks of pregnancy our ultrasound examination revealed a normal fetal biometry, except for a very short right femur without angulation. The left femur was normal.
There was no sign of fracture. The knees were normal. Upper and lower limb were normal too. 
The fetal facial profile was normal. 

At 27 and 30 weeks of gestational age we confirmed an important difference between the length of the fetal femurs and postnatal X-ray confirmed this finding.  

The final diagnosis was isolated right unilateral proximal femoral focal deficiency. The diagnosis was confirmed during the postnatal period.  

 

Images 10, 11 and 12: 2D images showing the difference between the lenght of fetal femurs.
The fetal profile was normal.


 
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