Fanconi's familial hypoplastic anaemia with some unusual features.

Med J Aust. 1976 Jan 31;1(5):116-8.

Fanconi's familial hypoplastic anaemia with some unusual features.

Farrell GC.

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.