n South African Medical Journal - Osteoporosis-pseudoglioma syndrome in South Africa : the new millennium
|Article Title||Osteoporosis-pseudoglioma syndrome in South Africa : the new millennium|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of the Western Cape, 2 University of the Western Cape, 3 University of the Western Cape, 4 University of Cape Town, 5 University of Cape Town, 6 University of Cape Town, 7 Red Cross Children's War Memorial Hospital, 8 Red Cross Children's War Memorial Hospital and 9 Red Cross Children's War Memorial Hospital|
|Publication Date||Jun 2016|
|Pages||100 - 102|
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.
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