Radiographic features of osteogenesis imperfecta

Radiographic features of osteogenesis imperfecta

BACKGROUND Osteogenesis imperfecta (OI), commonly called "brittle bone disease", is a genetic disorder characterised by increased bone fragility and decreased bone density due to quantitative and/or qualitative abnormalities of type I collagen. Different types of OI exist, from mild to severe; they may lead to death, multiple bone fractures, skeletal deformity and short stature. METHODS Sever...

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 in a child presenting with neurological features.

Discussion This case history is of interest because of the diagnostic problems presented by the onset of haematuria during the course of severe staphy-lococcal septicaemia treated with massive doses of penicillin, since it may be a complication both of the disease and of the therapy. Haematuria may arise during the course of staphylococcal septicaemia but in this patient the onset was later tha...

Lethal osteogenesis imperfecta.