hrp0089p1-p036 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018
Braslavsky Debora
, Scaglia Paula
, Sanguineti Nora
, Cassinelli Hamilton
, Ruiz Schenstrom Olivia
, Armando Romina
, Arberas Claudia
, Aza-Carmona Miriam
, Nevado-Blanco Julian
, Daniel Lapunzina-Badia Pablo
, Heath Karen E
, Rey Rodolfo
, Bergada Ignacio
Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...