New perspectives on osteogenesis imperfecta

Therapeutical Perspectives in Osteogenesis Imperfecta

Osteogenesis imperfecta is a genetic disease for which no cure is yet known. It is one of the most common skeletal dysplasias. It causes the osteoblasts to grow poorly, slowing the growth of children with the disease and causing their bones to break easily. The skeletal fragility is explained by the mutations in the genes for type I collagen, but the clinical range is wide and the relation betw...

Osteogenesis imperfecta

Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...

Osteogenesis imperfecta.

Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may singl...

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.

Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidis...

Lethal osteogenesis imperfecta.