ARE DRUGS HELPFUL IN ADULTS WITH OSTEOGENESIS IMPERFECTA

The term osteogenesis imperfecta is used to designate a group of disea ses characterized by brittle bones [1,2] that fracture with minimal tr auma, leading to skeletal deformities. These diseases are associated w ith mutations in the genes encoding the alpha 1 and alpha 2 chains of type I collagen, which is produced by osteoblasts. Over one hundred mu tations have been identified to date [3]. Type I collagen genes can be affected by numerous mutations responsible either for loss of fibrils or for poor fibril quality. Each mutation is specific for each family . Blueness of the sclerae is a classical feature that is present in th e most common form of osteogenesis imperfecta, called type I in the Si llence classification and inherited as a dominant autosomal disease. T ype II, also characterized by blue sclerae and dominant inheritance, i s lethal. Type III is the most severe nonlethal form of osteogenesis i mperfecta. White sclerae and a dominant pattern of inheritance are typ ical of types III and IV, although recessive inheritance has been repo rted in a few cases of type III disease. In France, before the Sillenc e classification gained acceptance, two forms of osteogenesis imperfec ta were differentiated, namely Porak and Durante disease, first descri bed in 1905 [4], and Lobstein disease. Porak and Durante [3] gave a de tailed description of the clinical features, anatomic characteristics and diagnosis of osteogenesis imperfecta, pointing out the differences between this condition and achondroplasia. In 1928 the term ''men of glass'' was proposed to designate patients with osteogenesis imperfect a [5].