Searchable abstracts of presentations at key conferences in endocrinology

ea0095p94 | Bone 2 | BSPED2023

From osteogenesis imperfecta to hypophosphataemic rickets; a story of missed or mis-diagnosis

Ibrahim Mohsina Noor , Nand Rathore Heera , Khoso Zubair , Riaz Maira , Lakhani Versha Rai , Yasir Mehrunisa , Chachar Saadullah

We report a Pakistani family of three adults and five children affected with same disorder. An 8-year-old boy referred to us for the management of osteogenesis imperfecta according to mother he was not gaining height, increasing head size, and bowing of legs since the age of 2 years. He had dental caries and brittle teeth. Two of his maternal uncles and one maternal aunt were suffering from the same disease; their children also showed similar complaints. A paternal uncle and a...