Stickler's syndrome associated with congenital glaucoma

Autor:	Michael P. Clarke, Nicholas G. Ziakas, Andrew S. Ramsay, Sally Ann Lynch
Rok vydání:	1998
Předmět:	Male medicine.medical_specialty Congenital glaucoma S syndrome business.industry Infant Glaucoma Syndrome medicine.disease Dermatology eye diseases Surgery Ophthalmology Pediatrics Perinatology and Child Health Arthropathy medicine Humans Connective Tissue Diseases business Genetics (clinical)
Zdroj:	Ophthalmic Genetics. 19:55-58
ISSN:	1744-5094 1381-6810
DOI:	10.1076/opge.19.1.55.2177
Popis:	A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, and retinal detachment. Congenital glaucoma and Stickler's syndrome are two diagnoses frequently considered in high myopia in infancy. The case report described presents a case of Stickler's syndrome in association with congenital glaucoma. This association is unusual, but important to recognise in the neonatal period. The possibility of coexistence of these clinical entities, should be considered in the future.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::941528775ec5df7c672d809f504f2234 https://doi.org/10.1076/opge.19.1.55.2177 Zobrazit plný text záznamu Plný text ve formátu PDF