Chondrodysplasia punctata

Case contributed by Dr Liter Nguri

Presentation

Respiratory distress and tachypnea

Patient Data

Age: Neonate
Gender: Male
X-ray

There are diffuse punctate calcific foci seen throughout the visualized spine, bilateral coracoid processes and distal epiphyses of bilateral humeri. Otherwise normal appearing long bones.

Note is also made of apparent cardiomegaly.

Case Discussion

The cause of respiratory distress is not identified on the above babygram. Incidentally, calcific foci are seen as outlined above, most suggestive of chondrodysplasia punctata.

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Case information

rID: 72680
Published: 8th Dec 2019
Last edited: 8th Dec 2019
Inclusion in quiz mode: Included

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