You meet the baby with his mother. He was a little floppy at birth and not feeding well with a low grade fever. He is on 2L oxygen but with no respiratory distress. He is visibly jaundiced.
The mother is a 25 year old, this is her second child, delivered normally at 38 weeks. The baby weighed 2.8kg. She did not attend regular antenatal appointments and had no prenatal screening.
You examine the baby and he is indeed a bit floppy. The liver and spleen are palpable at 1 and 2cm below costal margins, respectively. His ears and mouth seem rather small and he has upward slanting eyes. You also notice a deep crease in both palms.
These are the initial blood results:
Hb 236g/l (130-180)
MCV 100fl (82-98)
WCC 25×109/l (4-11)
Neutrophils 11.45×109/l (1.7-7.5)
Lymphocytes 2.1×109/l (1.5-4.5)
Platelets 65×109/l (150-450)
Retics 200×109 (50-150)
U&E – normal
LDH – normal
Bilirubin 289umol/l (5-21)
Total protein 49
Alkaline phosphatase 286iu/l (83-248)
Alanine aminotransferase 15iu/l (0-35)
1. What is your interpretation of these results?
2. Any other additional clinical examinations / features should you look for which might be significant?
3. Based on your physical examination of the baby, what other additional investigations would be useful and why?
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