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.accessioned2018-05-21T12:33:06Z
dc.date.available2018-05-21T12:33:06Z
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.identifier.citationChetty, M. et al. (2016). Osteoporosis-pseudoglioma syndrome in South Africa. South African Medical Journal, 106(6): S100-S102.en_US
dc.identifier.issn2078-5135
dc.identifier.urihttp://dx.doi.org/10.7196/SAMJ.2016.v106i6.11008
dc.identifier.urihttp://hdl.handle.net/10566/3714
dc.language.isoenen_US
dc.publisherHealth and Medical Publishing Groupen_US
dc.subjectOsteoporosis-pseudoglioma syndrome (MIM 259770)en_US
dc.subjectRare autosomal recessive disorderen_US
dc.subjectBone fragilityen_US
dc.subjectHyperplasiaen_US
dc.titleOsteoporosis-pseudoglioma syndrome in South Africaen_US
dc.typeArticleen_US

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