Bone Abstracts

Metatropic dysplasia (MD) was first described by Maroteaux et al. in 1966. Its name was derived from the Greek word metatropos which means ‘changing pattern’ because individuals with this diagnosis begin life with a short-limbed dysplasia and a long trunk with narrow chest, and over time their dysplasia becomes short-trunked due to progressive kyphoscoliosis1. It is now recognized that MD is caused by gain-of-function mutations in transie...

Fractures are common in childhood, but multiple fractures during growth could indicate osteoporosis. Children with frequent fractures might benefit from further investigations for osteoporosis and as such, obtaining an accurate fracture history is important. The 2013 International Society for Clinical Densitometry Paediatric Osteoporosis Position Statement defined a clinically significant fracture history as two long bone fractures before age 10 years or three long bo...

Although it has been suggested that overweight and obese children have an increased risk of fracture, recent studies in post-menopausal women have shown that the relationship between obesity and fracture risk varies by fracture site. Thus, obesity is protective against wrist fractures but confers an increased risk of humeral fractures. There are no data to suggest whether this observation is also present in children. We therefore assessed whether adiposity and overweight/obesi...

Objectives: To examine the usefulness of Lego® as a visual reinforcer to explain genetic mutations to parents and carers of children and young people who have osteogenesis imperfecta (OI).Methods: Before entering a dedicated OI clinic, patients and carers completed a quantitative questionnaire devised by one of the team (MR), asking how much they knew about the genetic mutations causing OI within their families and whether they wished for a more det...

TNF receptor-associated factors (TRAFs) −6 and −3 regulate RANKL and TNF signaling in osteoclast precursors (OCPs), but they can have opposing effects, and it is not known if their functions are inter-dependent. For example, TRAF6 is required for RANKL/RANK-induced osteoclastogenesis, while TRAF3 limits both RANKL- and TNF-induced osteoclastogenesis through proteasomal degradation of NF-κB-inducing kinase; and inhibition of autophagic degradation of TRAF3 by c...

Objectives: Children with Perthes disease may present with altered walking patterns even at the healed stage of the disease. The aim of the study was to assess the walking endurance, fatiguability and gait changes of children with healed Perthes disease, and to determine if walking endurance is associated with hip function and quality of life.Methods: Fifty-one children (38 males) aged 8–16 years with >3 years post-diagnosis of Perthes disease c...