[Ophthalmologic findings in child in the Cornelia de Lange syndrome]

Klin Oczna. 2009;111(10-12):348-9.
[Article in Polish]

Abstract

Purpose: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, development delay, low birth weight, skeletal anomaly, hirsutism and various ophthalmologic and hearing findings.

Material and methods: We described ophthalmologic problems in 2-year-old girl.

Results: We have find arched eyebrows, long lashes, epiphora, ptosis, nystagmus, myopia, and fundus eye changes.

Conclusions: We recommend early ophthalmologic examination in patients with Cornelia de Lange syndrome.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Blepharoptosis / diagnosis*
  • Child, Preschool
  • De Lange Syndrome / diagnosis*
  • Diagnostic Techniques, Ophthalmological
  • Female
  • Fundus Oculi
  • Humans
  • Infant, Newborn
  • Myopia / diagnosis*
  • Nystagmus, Congenital / diagnosis*
  • Rare Diseases