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Articles » Skeletal » Chondrodysplasia punctata

2014-09-21-01 Chondrodysplasia punctata © Manohar

Chondrodysplasia punctata

Sivasamy Manohar, MD.

Madurai, India


Case report

Following images represent a case of chondrodysplasia punctata that was seen at 22 weeks of gestation. The main sonographic findings are shown here:

Images 1, 2: The images show facial profile of the fetus with a depressed nasal bridge (Binder facies).


Images 3, 4:  Image 3 shows transverse scan of the fetal head with normal ossification of the skull bones. Image 4 shows coronal scans of the fetal face and orbits - lenses are suspected of cataract.


Images 5, 6: Transverse scan at the level of fetal thorax and abdomen - no striking abnormalities are present. 


Images 7, 8, 9, 10, 11, and 12: The images shows biometry of the long bones indicated non-rhizomelic type of the disorder. Small irregularities of e
piphyseal ossification producing a stippled appearance can be observed. The image 12 shows fetal foot - FL/foot length ratio was less than 0,8 suggesting skeletal dysplasia.




Images 13, 14: The images show fetal feet suspected of duplicated calcaneus (similar finding is sometime seen in thanatophoric dysplasia). 
Premature ossification of tarsal bones can be seen.


Images 15, 16, 17: The images show fetal spine with p
remature ossification of the coccyx.


Images 18, 19, 20, and 21: 3D images of the flat fetal face with depressed nasal bridge.



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