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Pyle metaphyseal dysplasia in an African child: Case report and review of the literature
(Health & Medical Publishing Group, 2016)
Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We
report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who ...
Osteoporosis-pseudoglioma syndrome in South Africa
(Health & Medical Publishing Group, 2016)
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 ...