oa South African Medical Journal - A case of Fanconi's anaemia



A sporadic case of Fanconi's anaemia in a boy of 6 years is reported. He had a hypoplastic bone-marrow anaemia with leucopenia and thrombocytopenia. He had congenital abnormalities of his fingers and heart and an absent right kidney. There was a disturbance of pigment metabolism of his skin, with increased melanin deposition. ACTH therapy was unsuccessful. The literature is briefly reviewed.


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