A case of Fanconi syndrome at an unusually young age presenting anemia, leukopenia, thrombocytopenia, microcephaly, hypogenitalism, skin pigmentation, and anomalies of thumbs, kidneys and heart is described. The patient's younger brother with multiple anomalies of the extremities, hydrocephalus, abnormal ears and genitalia died at the age of 17 months without pigmentation and hematologic symptoms, changes which usually do not occur before the age of 5 years. The literature is reviewed and a follow-up on previously reported cases is given. It seems that in addition to a hypoplasia of the bone marrow an extracorpuscular hemolytic mechanism plays a role in the pathogenesis of the anemia. It is suggested that some manifestations may be due to impaired adrenocortical function.