Costello syndrome: report and review

Am J Med Genet. 1999 Jan 15;82(2):187-93. doi: 10.1002/(sici)1096-8628(19990115)82:2<187::aid-ajmg17>;2-2.


We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adult
  • Facies
  • Female
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / pathology*
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Skin Abnormalities / genetics
  • Skin Abnormalities / pathology*
  • Syndrome