[Goldenhar's syndrome--case report].
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.
Oddział Okulistyczny Szpitala Wojewódzkiego w Łomzy. okulistyka.lomza@gmail.com
Ewa
E
Poppe
Krzysztof
K
Bandzul
Katrzyna
K
Komaszyło-Spalińska
Bozena
B
Florczyk
D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000473:pathology; D006053:Goldenhar Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities / Q000473:pathology; D010641:Phenotype; D035583:Rare Diseases