Costello syndrome: clinical features and tumoral risk

Costello syndrome is a sporadic development anomaly suggesting a genetic determinism. Main features include charateristic facial features, mental retardation, growth retardation, cutis laxa, heart malformation, and peri-orificial papillomata. In previous reported cases, the frequency of tumors is 15%, which argues for a screening protocol. The occurence of a tumor in a child with growth retardation and cutis laxa must be reminiscent of Costello syndrome. The determinism of this syndrome is still unknown, and the hypothesis of an inactivation of a tumor suppressor gene is to be considered. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.