Case 107 – update 2

You think the baby has some dysmorphic features. You look at his blood film.

You also check his conjugated bilirubin and request CXR, abdominal USS and ECHO.


1. What are the main features and why?

2. What factors might affect the % of certain cells seen on the film?

3. What immunophenotyping would you be expecting? Why do conjugated bilirubin?

4. What do we look for in CXR and ECHO?

5. Would you do any genetic/mutation studies?

6. What is the role for bone marrow biopsy?

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