[Goldenhar's syndrome--case report]

Klin Oczna. 2012;114(1):38-40.
[Article in Polish]

Abstract

Goldenhar's syndrome is a very rare, multiple, developmental disease, with characteristic oculo-auriculo-vertebral triad of abnormalities. Ophthalmological changes are mainly: microphthalmia or anophthalmia and rarely, coloboma of upper eyelid or coloboma of optic nerve head. The aim of the article is to present the case of anophthalmia in the new-born child with phenotype of Goldenhar's syndrome.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple
  • Anophthalmos / pathology
  • Goldenhar Syndrome / diagnosis*
  • Goldenhar Syndrome / genetics
  • Goldenhar Syndrome / pathology*
  • Humans
  • Infant, Newborn
  • Male
  • Optic Nerve / abnormalities
  • Optic Nerve / pathology
  • Phenotype
  • Rare Diseases*