Clinical features

• Usually presents in the first year of life: in 25% at birth and 90% <6 months of age. Rarely presents >1 year.

• Mildly affected individuals may rarely be detected as older children or adults during family studies.

• Associated physical anomalies in 50%; abnormal facies with abnormal eyes, webbed neck, malformed (including triphalangeal) thumbs, other skeletal abnormalities, short stature, congenital heart lesions, renal defects.

• Anaemia usually severe and child commonly transfusion dependent. .52 • Susceptibility to infection is not 4.

2 • Hepatosplenomegaly absent.

• Family history is +ve in only 10-20% cases; most are sporadic.

• 4 risk of AML in long survivors; ~5% in biggest series reported to date.

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