Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

Keratitis

Inflammation of the cornea.

Total: 2

(per page)

PMID (PMCID)
20128554	MALE	Infant, Newborn
	Infectious keratitis in a newborn with goldenhar syndrome.
	Mittal S, Mittal A, Meenakshi R, Bharathi JM, Rengappa R. J Pediatr Ophthalmol Strabismus. 2010;47(1):43-5.
	This report describes a case of Goldenhar syndrome in a newborn who presented with all of the classic signs of Goldenhar syndrome associated with the rare occurrence of infectious keratitis and hydrocephalus.
20128554	MALE	Infant, Newborn
	Infectious keratitis in a newborn with goldenhar syndrome.
	Mittal S, Mittal A, Meenakshi R, Bharathi JM, Rengappa R. J Pediatr Ophthalmol Strabismus. 2010;47(1):43-5.
	This report describes a case of Goldenhar syndrome in a newborn who presented with all of the classic signs of Goldenhar syndrome associated with the rare occurrence of infectious keratitis and hydrocephalus.