Fanconi's anemia (FA) is an autosomal recessive disorder with a high incidence of aplastic anemia and congenital anomalies, as well as a predisposition to malignancies such as leukemia and solid tumors, usually squamous carcinomas of the gastrointestinal or gynecologic systems. While the anomalies are obviously present at birth, the average ages for the other complications are 9 years for aplastic anemia, 15 years for leukemia, 16 years for liver tumors, and 23 years for other tumors.1,2 Patients in whom FA is suspected because of their anomalies can be tested for increased chromosome breakage with DNA clastogenic agents3 and monitored for the development of hematologic or malignant changes.
In this report, we describe two cousins with similar multiple anomalies, both characteristic and unusual in FA, and no signs of aplastic anemia, who died of undiagnosed brain tumors at ages 1 year 9 months and 4 years 10 months. Brain
Alter BP, Tenner MS. Brain Tumors in Patients With Fanconi's Anemia. Arch Pediatr Adolesc Med. 1994;148(6):661-663. doi:10.1001/archpedi.1994.02170060115027