Osteoporosis-pseudoglioma syndrome in South Africa

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dc.contributor.authorChetty, M
dc.contributor.authorStephen, Lawrence X.G.S
dc.contributor.authorRoberts, T
dc.date.accessioned2016-10-05T15:15:36Z
dc.date.available2016-10-05T15:15:36Z
dc.date.issued2016
dc.description.abstractThe 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.en_US
dc.description.accreditationDHETen_US
dc.identifier.citationChetty, M. et al. (2016). Osteoporosis-pseudoglioma syndrome in South Africa. South African Medical Journal, 106(6): S100-S102en_US
dc.identifier.issn2078-5135
dc.identifier.urihttp://hdl.handle.net/10566/2435
dc.identifier.urihttp://dx.doi.org/10.7196/SAMJ.2016.v106i6.11008
dc.language.isoenen_US
dc.privacy.showsubmitterFALSE
dc.publisherHealth & Medical Publishing Groupen_US
dc.rightsThe South African Journal Medical Journal is an Open Access Journal and provides immediate open access to its content on the principle that making research freely available to the public supports a greater global exchange of knowledge.
dc.source.urihttp://dx.doi.org/10.7196/SAMJ.2016.v106i6.11008
dc.status.ispeerreviewedTRUE
dc.subjectOsteoporosis-pseudoglioma syndromeen_US
dc.subjectSouth Africaen_US
dc.subjectBone fragilityen_US
dc.subjectBone fracturesen_US
dc.subjectBone densityen_US
dc.titleOsteoporosis-pseudoglioma syndrome in South Africaen_US
dc.typeArticleen_US

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