Article
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].
Archivos argentinos de pediatria - 1 Jun 2020
Braslavsky Débora, Scaglia Paula, Sanguineti Nora, Aza-Carmona Miriam, Nevado Blanco Julián, Lapunzina Badia Pablo D, Fernández María Del C, Ruiz Olivia, Carmona Alejandra, Szlago Marina, Arberas Claudia, Cassinelli Hamilton, Heath Karen, Rey Rodolfo, Bergadá Ignacio
Abstract excerpt
Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognized. Its association with congenital retinal folds should guide the diagnosis to the Osteoporosis-Pseudoglioma syndrome (OMIM 259770), a rare disease (prevalence of 1/2...
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