Congenital Bone Marrow Failure Syndromes

Question 1

What are congenital bone marrow failure syndromes?

Answer 1

Group of rare genetic blood disorders in which there is usually some form of aplastic anaemia (failure of the bone marrow to produce blood), associated with a family history of the same disorder

Question 2

What is the inheritance pattern of Fanconi anaemia?

Answer 2

Autosomal recessive

Question 3

Clinical features of Fanconi anaemia

Answer 3

Haematological (aplastic anaemia, increased risk of AML)

Neurological

Skeletal abnormalities (short stature, thumb/radius abnormalities)

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