Avaliação clínica, radiográfica e laboratorial de pacientes com osteogênese imperfeita

Abstract

BACKGROUND. Osteogenesis imperfecta is a genetic disorder characterized by defects in type I collagen. The main symptom is bone fragility and susceptibility to fractures. Other clinical findings are dentinogenesis imperfecta, blue sclera, early deafness and joint laxity. The purpose of this paper is to establish a practical relationship of the clinical differences between the Sillence's groups. METHODS. 22 patients were classified according to Sillence et al criteria and submitted to laboratory tests including blood calcium level and bone densitometry. RESULTS. All clinical and laboratory differences were discussed in the text. CONCLUSIONS. Differences such as results that were found in walking ability, height and bone densitometry were significant and may help to classify patients and to establish prognosis.