Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously.

Purpose: To report a rare case of a patient with two germline mutations arising de novo resulting in bilateral retinoblastoma and hypochondroplasia.

Design: A brief review about retinoblastoma and hypochondroplasia; a case report with genetic mutational analysis results.

Case Report: We report a patient manifesting the clinical features of both bilateral retinoblastoma and hypochondroplasia.