Cockayne syndrome

J Assoc Physicians India. 2000 Nov;48(11):1119-21.

Abstract

We report four cases of Cockayne Syndrome in a family of seven children. Apart from the usual clinical and laboratory features, sparse eye lashes and high arched palate in two patients, conjunctival and corneal edema in one, and proximal muscle weakness in one patient were noticed as additional findings.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cockayne Syndrome / diagnosis*
  • Cockayne Syndrome / genetics*
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Humans
  • India
  • Male
  • Pedigree*