Costello syndrome

Am J Med Genet. 1991 Oct 1;41(1):69-73. doi: 10.1002/ajmg.1320410118.

Abstract

In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Face / abnormalities
  • Foot Deformities, Congenital*
  • Hand Deformities, Congenital*
  • Humans
  • Infant, Newborn
  • Intellectual Disability*
  • Male
  • Papilloma
  • Syndrome