Endocrine Abstracts

Case report: An 11-year-old boy presented with an increasingly waddling gait and backache. He had been born small for gestational age (BW 1.8kg; -4.7 SDS) and had a history of dyspraxia and autism. He reported reasonable dairy intake and had no history of previous fractures or clinical signs of osteogenesis imperfecta (OI). Spinal imaging revealed multiple vertebral fractures. Malignancy and systemic inflammatory causes were excluded. An OI gene panel revealed a single pathoge...