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- Autosomal Recessive
- Usually presents in early adulthood
- Bones dense and brittle
Symptoms
- due to reduced bone marrow space
- anaemia
- thrombocytopenia
- recurrent chest/throat infection
- compression of cranial nerves
Investigations
- leukoerythroblastic
- X-ray
- lack of differentiation between medulla and cortex (marble bone)
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