Familial Hypoplastic Anemia with Congenital Abnormalities (Fanconi’s Syndrome)

The published examples of Fanconi's syndrome are reviewed. The syndrome consists of familial hypoplastic anemia and is associated with pigmentation, microcephaly, strabismus, mental backwardness and other congenital anomalies. Two further examples occurring in a family of 7 children are described. Both sisters have macrocytic hypoplastic anemia, microcephaly and convergent strabismus; one has been treated by splenectomy. Three other siblings have microcephaly and other congenital abnormalities, but no anemia. There was no evidence of hemolysis. This condition is probably determined by a recessive gene.