Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...

Objective: Bisphosphonates (BPs) are widely used in treatment of pediatric patients with osteogenesis imperfecta (OI) and their beneficial effect on bone density and fracture rates has been well reported. Atypical femoral fracture is a potential complication of bisphosphonates, usually occurring after several years of BP treatment in postmenopausal women. Some evidence suggests increased proportion of subtrochanteric femoral fractures in children with OI after prolonged use of...

Early-onset primary osteoporosis is characterized by low bone mineral density (BMD) and increased tendency to fractures in young people. Studies on rare bone diseases, such as osteogenesis imperfecta (OI), have identified several new genes associated with early-onset skeletal fragility. This study aimed to explore the role of variation in the cartilage-associated protein (CRTAP) gene in early-onset osteoporosis and/or recurrent fractures. We first used homozygosity ma...

Objectives: Fractures in older children are common, often related to physical activity. In contrast, fractures in infants are rare and especially those involving the femur (upper leg) are infrequent. Femoral fractures in young children are highly suspicious for non-accidental trauma, and screening for possible child abuse should be urgently carried out. However, some metabolic bone diseases, like osteogenesis imperfecta (OI), may predispose to fractures already in infancy and ...