[Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].
Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic and prophylactic fields have resulted in a great present-day interest in this disease. In this work we report six cases of osteogenesis imperfecta according to the current classification and we review the most outstanding aspects.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics* / Q000628:therapy
Heterogeneidad genética de la osteogénesis imperfecta. Estudio de seis observaciones.