Chondrodysplasia punctata

Case contributed by Liter Nguri
Diagnosis almost certain

Presentation

Respiratory distress and tachypnoea

Patient Data

Age: Neonate
Gender: Male
x-ray

There are diffuse punctate calcific foci seen throughout the visualised 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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