A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities . In spite of significant advances in understanding the genetic basis of OI , there have been no large -scale natural history studies . To better understand the natural history and improve the care of patients , a network of Linked Clinical Research Centers (LCRC ) was established . Subjects with OI were enrolled in a longitudinal study , and in this report , we present cross-sectional data on the largest cohort of OI subjects (n = 544 ). OI type III subjects had higher prevalence of dentinogenesis imperfecta , severe scoliosis , and long bone deformities as compared to those with OI types I and IV . Whereas the mean lumbar spine area bone mineral density (LS aBMD ) was low across all OI subtypes , those with more severe forms had lower bone mass . Molecular testing may help predict the subtype in type I collagen-related OI . Analysis of such well-collected and unbiased data in OI can not only help answering questions that are relevant to patient care but also foster hypothesis-driven research , especially in the context of 'phenotypic expansion ' driven by next -generation sequencing .