[Goldenhar's syndrome--case report].

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.

• Authors: Ewa Poppe, Krzysztof Bandzul, Katrzyna Komaszyło-Spalińska, Bozena Florczyk
• Journal: Klinika oczna (Klin Oczna) Vol. 114 Issue 1 Pg. 38-40 ( 2012) ISSN: 0023-2157 [Print] Poland
• Vernacular Title: Zespół Goldenhara-opis przypadku.
• PMID: 22783743 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

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