Congenital glaucoma and skeletal dysplasia. 1990

L A Mawn, and J E O'Brien, and T R Hedges
Department of Ophthalmology, Tufts University, New England Medical Center, Boston Mass.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007429 Intraocular Pressure The pressure of the fluids in the eye. Ocular Tension,Intraocular Pressures,Ocular Tensions,Pressure, Intraocular,Pressures, Intraocular,Tension, Ocular,Tensions, Ocular
D008297 Male Males
D010388 Pelvis The space or compartment surrounded by the pelvic girdle (bony pelvis). It is subdivided into the greater pelvis and LESSER PELVIS. The pelvic girdle is formed by the PELVIC BONES and SACRUM. Pelvic Region,Region, Pelvic
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001848 Bone Diseases, Developmental Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D005269 Femur The longest and largest bone of the skeleton, it is situated between the hip and the knee. Trochanter,Greater Trochanter,Lesser Trochanter,Femurs,Greater Trochanters,Lesser Trochanters,Trochanter, Greater,Trochanter, Lesser,Trochanters,Trochanters, Greater,Trochanters, Lesser
D005901 Glaucoma An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed) Glaucomas
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

Related Publications

L A Mawn, and J E O'Brien, and T R Hedges
January 2009, BMJ case reports,
L A Mawn, and J E O'Brien, and T R Hedges
January 1985, Journal of pediatric ophthalmology and strabismus,
L A Mawn, and J E O'Brien, and T R Hedges
November 1997, American journal of medical genetics,
L A Mawn, and J E O'Brien, and T R Hedges
October 2015, The Orthopedic clinics of North America,
L A Mawn, and J E O'Brien, and T R Hedges
May 1983, The Journal of pediatrics,
L A Mawn, and J E O'Brien, and T R Hedges
September 1968, Archiv fur Kinderheilkunde,
L A Mawn, and J E O'Brien, and T R Hedges
January 1980, American journal of medical genetics,
L A Mawn, and J E O'Brien, and T R Hedges
January 1976, Annales de radiologie,
L A Mawn, and J E O'Brien, and T R Hedges
January 2006, The Journal of pediatrics,
L A Mawn, and J E O'Brien, and T R Hedges
September 1987, The British journal of dermatology,
Copied contents to your clipboard!