Bone Abstracts

see PP185....

FGFR3 activating mutations are responsible for achondroplasia (ACH), the most common form of dwarfism. ACH clinical features include short stature, midface hypoplasia, frontal bossing and prognathism and both endochondral and membranous ossifications are disturbed. It is unknown if abnormal mandibles are present in ACH. To date, it is believed that primary (Meckel’s) and secondary (angular and condylar) cartilages play important roles in determining the final shape and po...

Background: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include fractures, hypermobility and weakness. Severely affected children can present with deformities such as bowing of long bones and spinal curves. Mobility may be significantly impaired. The medical management of children with severe OI includes orthopaedic surgery and bisphosphonate treatment. Physiotherapy to promote function and partici...

Objective: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include easy fracturing, short stature, hypermobility, weakness and fatigue. Our experience is that including a child with OI within a school or nursery environment can cause anxiety for both carers and staff. Questions often arise regarding how to promote participation whilst maintaining a child’s safety. Keeping up with the curriculum ca...

Osteogenesis imperfecta (OI) is most commonly caused by a defect in the gene that produces type I collagen. Features include fractures and ligamentous laxity. Reduced muscle tone is often seen, which can result in gross motor delay in younger children.Dynamic elastomeric fabric orthoses (DEFOs or lycra garments) are widely used in children with low truncal muscle tone, have been shown to improve posture, and increase stability. There is no research in th...

Objective: Osteogenesis imperfecta (OI) is most commonly caused by a defect in the genes that produce type I collagen. Clinical features include low bone mass, fractures and spinal abnormalities. Pars defects are abnormalities in the pars interarticularis of vertebrae. There is a higher incidence of pars defects in the lumbar spine in children with OI compared to the normal population. Abdominal muscle weakness and altered spinal postures are common presentations in the childr...

The fibroblast growth factor receptor 3 (FGFR3) activation leads to dwarfism with a spectrum of severity, hypochondroplasia (HCH), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). Interestingly, FGFR3 mutations localized at the same position in the tyrosine kinase domain are responsible for HCH (p. Lys650Asn), SADDAN (p. Lys650Met) and TD (p. Lys650Glu).The mechanisms of FGFR3 activation ...

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...

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. In addition to bone fragility it may be associated with neurological impairment. We report a unique case of OI type 15 in a child with uniparental isodisomy for chromosome 12 who also has von Willebrand disease type 2N, congenital ptosis, early onset scoliosis and a movement disorder.Presenting Problem: A female infant was delivered normally at 4...

This study aims at determining if casein would lead to a better bone status than soy in the context of a moderate protein restriction (6% of total energy intake) in growing mice.Ten-week-old female Balb/C mice were divided in four groups of 15 animals. Two groups received 6% of their energy intake as protein, one as casein and the other as soy protein. The third group was a normal-protein control receiving 20% soy protein. The last group (positive contro...