[Costello syndrome: clinical aspects and tumor risk]

Arch Pediatr. 2002 Oct;9(10):1059-63. doi: 10.1016/s0929-693x(02)00058-1.
[Article in French]

Abstract

Costello syndrome is a sporadic development anomaly suggesting a genetic determinism. Main features include characteristic 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 occurrence 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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Child
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Genes, Tumor Suppressor
  • Growth Disorders*
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability*
  • Male
  • Neoplasms / etiology*
  • Phenotype