Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype

Genet Couns. 1994;5(4):337-43.

Abstract

In this report we describe two non-related patients, a 12-year-old girl and 3 6/12-year-old boy, with Costello syndrome. Costello syndrome is a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign. Characteristic facial changes, loose, hyperelastic skin and papillomata become progressively more evident with age. Patients with Costello syndrome present a pleasant, happy nature and are mildly to moderately mentally retarded.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • Cutis Laxa / diagnosis
  • Cutis Laxa / genetics
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Facial Bones / abnormalities
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Joint Instability / diagnosis
  • Joint Instability / genetics
  • Male
  • Phenotype
  • Skull / abnormalities
  • Syndrome