title: Congenital glaucoma and skeletal dysplasia.
abstract: We have observed congenital glaucoma in a patient with a skeletal dysplasia closely resembling Kniest syndrome. The clinical and radiographic features, along with the differential diagnosis of Kniest syndrome, are discussed. Review of the literature suggests a relationship between the pathophysiology of bone dysplasia and congenital glaucoma. Congenital glaucoma may be an additional ocular finding in Kniest syndrome.
authors.affiliation: Department of Ophthalmology, Tufts University, New England Medical Center, Boston Mass.
authors.forename: L A
authors.initials: LA
authors.lastname: Mawn
authors.forename: J E
authors.initials: JE
authors.lastname: O'Brien
authors.forename: T R
authors.initials: TR
authors.lastname: Hedges
mesh_terms: D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000150:complications*; D005269:Femur / Q000000981:diagnostic imaging; D005901:Glaucoma / Q000150:complications / Q000151:congenital*; D006801:Humans; D007223:Infant; D007429:Intraocular Pressure; D008297:Male; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome