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An incidence of bilateral gonadoblastoma in a 23-month old, mentally retarded boy with congenital sporadic aniridia, undescended dysgenetic testes, deletion of a chromosome (11) (p1302p14.2) and a later occurring unilateral Wilms' tumor is reported. The patient was treated by bilateral gonadectomy, nephrectomy, and chemotherapy, and is alive and well five years later. Another three aniridia/gonablastoma observations from the literature are discussed, two of them without and one in combination with Wilms' tumor. Diagnosis of gonadoblastoma remained unsuspected in two cases until autopsy and in another two cases it was done at surgery. A comparison of four cases reveals common finding - aniridia, dysgentic gonads, genital abnormalities, mental retardation, deletion of 11p13, early occurrence and bilaterality of gonadoblastoma.

Aniridia, Gonadoblastoma, Wilms' Tumor and Deletion 11p13