Fanconi's familial hypoplastic anaemia with some unusual features.
A case of Fanconi's familial hypoplastic anaemia is described in a 48-year-old woman who had the usual haematological and constitutional abnormalities of this condition. Chromosomal studies on peripheral blood lymphocytes and direct marrow preparations demonstrated the chromosomal breaks previously described. The age of the patient and a congenital abnormality of breast development were unusual features, while the discovery of a benign liver tumour at necropsy is of interest, as the patient had received therapy with oxymetholone.
D000015:Abnormalities, Multiple / Q000150:complications*; D000741:Anemia, Aplastic / Q000150:complications*; D006528:Carcinoma, Hepatocellular / Q000209:etiology*; D002869:Chromosome Aberrations / Q000150:complications; D025063:Chromosome Disorders; D005199:Fanconi Anemia / Q000150:complications*; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000209:etiology*; D008875:Middle Aged; D010110:Oxymetholone / Q000009:adverse effects*
D010110:Oxymetholone