Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p132 | (1) | ICCBH2015

Bone structural characteristics and response to bisphosphonate treatment in children with Hajdu--Cheney syndrome

Sakka Sophia , RachelI Gafni , Clarke Bart , Rauch Frank , Hogler Wolfgang

Objectives: Hajdu–Cheney syndrome (HCS) is an ultra-rare, genetic bone disease caused by mutations in the NOTCH2 gene. HCS is characterised by dysmorphic features, acroosteolysis, and high turnover osteoporosis. Sparse evidence in adult HCS suggests increased BMD and reduced bone turnover during bisphosphonate (BP) therapy. A single paediatric case report indicated beneficial effects of i.v. pamidronate therapy. We present four paediatric patients with HCS, their...