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Festschrift: Peter Beighton
Osteoporosis-pseudoglioma syndrome in South Africa
Abstract
The osteoporosis-pseudoglioma syndrome (MIM 259770) is a rare autosomal recessive disorder in which bone fragility and frequent fractures are associated with serious ocular changes. The skeletal manifestations resemble those of osteogenesis imperfecta while hyperplasia of the vitreous, eye and corneal opacities often mimics the appearance of intraocular glioma. This disorder was previously reported in a South African family of Indian stock as ‘the ocular form of osteogenesis imperfecta’. Terminological discussion followed and it was suggested that these individuals had osteoporosis-pseudoglioma syndrome. This article describes and depicts the manifestations of the disorder and discusses the nosology.
Authors' affiliations
M Chetty, Faculty of Dentistry, University of the Western Cape, Cape Town; University of Western Cape-University of Cape Town Dental Genetic Clinic, and Red Cross Children’s War Memorial Hospital, Cape Town; and Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa
L X G Stephen, Faculty of Dentistry, University of the Western Cape, Cape Town, South Africa; and University of Western Cape-University of Cape Town Dental Genetic Clinic, and Red Cross Children’s War Memorial Hospital, Cape Town, South Africa
T Roberts, Faculty of Dentistry, University of the Western Cape, Cape Town; University of Western Cape-University of Cape Town Dental Genetic Clinic, and Red Cross Children’s War Memorial Hospital, Cape Town; and Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa
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Date published: 2016-05-25
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