Monday, 27 September 2010

MRCP revision battle 22.4: Fanconi anaemia

Fanconi anaemia is an autosomal recessive disorder which is characterised by:
  • pancytopenia secondary to bone marrow failure
  • dysmorphic features
    • short stature
    • microcephaly
    • absent radii
  • cafe au lait spots
  • susceptibility to cancers
    • AML
    • squamous cell cancers of head and neck
    • gynaecological  cancers

Most patients die by 30.

For the really keen:
emedicine article on Faconi anaemia 

For the rest of us lets move on to look at the similarly named, but completely different, Fanconi Syndrome