Unfortunately, having OI does not preclude patients from age-associated bone loss, and menopausal bone loss still occurs in women with OI; therefore, regular review in a specialist bone clinic is an effective way to ensure appropriate monitoring for potential problems. Introduction Osteogenesis imperfecta OI is a genetic disorder characterized by bones that break easily, often from little or no apparent trauma. Calcif Tissue Int ; The long-term outlook varies depending on the type of brittle bone disease. Children with type 4 OI are typically born with bowed legs, although the bowing tends to lessen with age.
We are using this analysis to further develop our collaborative multi-disciplinary service. The treatment has to include not only medical aspects, but needs to consider social, personal and environmental factors. We will check the safety of multiple doses of fresolimumab in the 2 nd stage of the study. The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties. We have not included in this report data on adult patients with deforming forms of OI type III and the more severe forms of type IV , because these rarely pose a diagnostic dilemma.
In 18 cases, there was a clear family history of dominant inheritance of the bone disease, but in 6 cases, there was no other affected family member. In adults, the team found no difference in fracture rates at 5 and 10 years. Flying Traveling by air with oxygen or a wheelchair is manageable, with proper advance planning. Three patients 2 with obvious dentinogenesis imperfecta had normal-colored sclerae type IV. Sign up for email alerts. In order to participate, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Reduced serum levels of carboxy-terminal propeptide of human type I procollagen in a family with type I-A osteogenesis imperfecta.
We compared median values for the various biochemical markers and the ratios between them by the Kruskal—Wallis test for 3-way comparisons and the Mann—Whitney U -test for 2-way comparisons , as the values were not gaussian distributed. Genetic heterogeneity in osteogenesis imperfecta. Research Support, Non-U. Type 2 OI is the most severe form of brittle bone disease, and it can be life-threatening. However, their life expectancy is normal or close to normal. Physical and occupational therapies to help improve their ability to move, to prevent fractures and to increase muscle strength are often useful.