Congenital pancytopenia associated with multiple congenital anomalies (Fanconi type); review of the literature and report of a twenty-year-old female with a ten-year follow-up and apparently good response to splenectomy.

Abstract

1) A case of hypoplastic anemia with multiple congenital anomalies (Fanconi9s type) is reported. The patient exhibited pancytopenia associated with skin pigmentation, small stature and anomalies of the skeletal and genito-urinary systems. 2) The literature is reviewed and the characteristics of the disease discussed. 3) Management and therapy are discussed.