Search :     
Cases
 2017-10-22  Case of the week # 458  © Lech Dudarewicz  www.TheFetus.net
Answer to the case of the week # 458
November 9, 2017 - November 23, 2017
 
Lech Dudarewicz, MD.



Case report
A young woman with unremarkable history was sent to our unit because of her husband was diagnosed with a genetic condition. The couple were advised about the 50% risk of the disease in offspring and scheduled for first trimester anomaly scan.

Our scan at 19 weeks 2 days revealed multiple dysmorphic features:
- shortened clavicles, lacking normal curvature,
- markedly enlarged anterior fontanelle, with wide sutures. 
- irregular outline of the skull,
- hypoplastic iliac bones, 
- hypoplastic nasal bones,
- slightly short ribs (the ossified segments were shortened, while the cartilaginous segments look normal, as a result no narrowing of the rib cage is visible)
- slightly short femur (equivalent to 18+0 weeks, at 19+2 weeks)
- no pubic bones were visible, which is normal at 19 weeks. Anomalies of pubic bones is a feature of cleidocranial dysplasia at later stages of development.
 
These features and the condition of the father, confirm the diagnosis of cleidocranial dysplasia.

We obtained the following images in the first and second trimester:


Images 1 and 2:
2D images in the first trimester. We saw
 the clavicles (the clavicles are absent in 10% of cases of cleidocranial dysplasia). The metopic suture appeared slightly wider than usual. The patient was informed, that the disease cannot be ruled out at this stage. 
 
 



Images 3-6: 2D and 3D images showing markedly enlarged anterior fontanelle, with wide sutures, irregular outline of the skull and hypoplastic nasal bones.


  



Images 7-12: 
2D and 3D showing shortened clavicles without normal curvature.

 
  



Images 13-16: 
2D and 3D images showing slightly short ribs (the ossified segments were shortened, while the cartilaginous segments look normal, as a result no narrowing of the rib cage is visible).


  



Images 17: 2D image shows hypoplastic iliac bones.






Images 18 and 19: 
2D images showing slightly short femur (equivalent to 18+0 weeks, at 19+2 weeks) and normal foot.

 



Image 20: report of the fetal biometry.

Back to case
Help Support TheFetus.net :