Chondrodysplasia punctata

Sivasamy Manohar

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).

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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.

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

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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 epiphyseal 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.
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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.

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

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

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