IN THE YEAR 1927, Fanconi published three cases of a rather unusual combination of congenital defects associated with what he called at the time a pernicious-like anemia. The cases reported by him were found in three brothers of the same family. Since then a number of similar cases have been published in the European literature as well as in the literature this side of the Atlantic. Although all the cases bear a certain resemblance to each other, it is rather hard to give a precise definition to the syndrome, since there is no good explanation for its etiology, and, what is more, there seem to be a number of variations in the clinical and laboratory findings. There is, however, no doubt that the syndrome exists as a pathological entity.
In his original article, Fanconi described three siblings between the ages of 5 and 7 years with pernicious anemia but which
GOLDSTEIN R. HYPOPLASTIC ANEMIA WITH MULTIPLE CONGENITAL ANOMALIES (FANCONI SYNDROME). AMA Am J Dis Child. 1955;89(5):618-622. doi:10.1001/archpedi.1955.02050110732022