Myelodysplasia as the initial presentation of Fanconi's anaemia in a phenotypically normal child

Patients with Fanconi's anaemia (FA) present with a wide spectrum of congenital abnormalities and develop hypoplastic anaemia. There is also at least a 10% risk of developing acute myeloid leukaemia (Alter 1987). Phenotypically normal patients have also been described who have only shown an increased number of chromosomal breaks (Auerbach, Rogatko & Schroeder-Kurth, 1989). We describe a 7-year-old girl presenting with myelodysplasia (MDS) in whom a diagnoses of FA was made by chromosome analysis after treatment had commenced.