Three families with five children affected by Fanconi's anaemia are reported. The incidence of congenital defects was variable, the correct diagnosis being most difficult to achieve in the three children showing only minor abnormalities. Measurement of foetal haemoglobin concentration, analysis of blood and bone marrow chromosomes, and S.V.40 virus transformation of skin fibroblasts were most helpful in establishing the diagnosis and in excluding an acquired aplastic anaemia.No abnormalities were seen in seven apparently unaffected siblings or in the six parents. However, there seems to be no certain way of predicting the onset of bone marrow failure while the patient is in the prepancytopenic phase and three of these siblings are still below the age of five years. Two patients received an adequate course of anabolic steroids combined with prednisone in low dosage. A good haematological and clinical response was seen in one of these children and a partial response in the other.A tendency to mutation in long-term skin fibroblast culture is reported and its significance discussed in relation to the documented increase in malignancy in Fanconi's anaemia.
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