Osteogenesis Imperfecta

Abstract

Armand, in 1716, reported a case of brittle bones of a newborn infant. This is said to be the first recorded observation of this condition. By the middle of the eighteenth century 30 such cases had appeared in the literature. In 1788 Eckman described a case of hereditary fragility of bones and traced the occurrence of this disease in three generations. Lobstein, in 1833, described the condition as idiopathic osteopsathyrosis or an idiopathic type of bone fragility. Vrolik described brittle bones in 1849 and renamed the condition “osteogenesis imperfecta.” Spurway in 1896 observed a peculiar bluish color of the sclera in association with brittle bones. A more detailed observation concerning the association of these two findings was made by Eddowes in 1900, when he suggested that “the transparency of the sclerotics indicates a want of the quality or quantity of the fibrous tissue forming the framework of the various organs of the body and probably explains the want of spring or toughness in the bones of these peculiar individuals.” Hereditary deafness was reported in 1912 by Adair-Dighton but van der Hoeve and de Kleyn did not observe its simultaneous occurrence with brittle bones and blue sclera until 1916. Since these cardinal symptoms were discovered and connected, numerous isolated cases and series of cases have been reported in the literature. The clinical picture has been studied and much laboratory investigation has been carried out in an effort to solve the riddle of this disease. A limited amount of pathologic material has been reviewed. Although most authors agree on the observed facts, conclusions concerning the etiology vary, and many physicians are still basing their treatment on unproved hypotheses concerning the true etiologic factor. Terminology and Classification used in Previous Reports As knowledge of this disease increased, many different names were applied to it. Lobstein's disease (maladie de Lobstein) or, as he called it, idiopathic osteopsathyrosis, was first renamed osteogenesis imperfecta by Vrolik. Since that time it has had many other names: fragilitas ossium (Klebs and Hochsinger), brittle bones, blue sclera and otosclerosis (Eddowes's syndrome), osteitis parenchymatosa chronica, dystrophia periostalis, periosteal aplasia, and periosteal dysplasia, have all been applied to one form or another of this disease. Classifications have been based on the time of appearance of the symptoms, as follows: (1) fetal cases; (2) infantile cases; (3) adolescent cases; (4) late cases. In the classification which probably is used most widely, the cases of brittle bones are divided into two groups: (1) the hereditary type, which is called an hereditary hypoplasia of the mesenchyme with brittle bones and blue sclera, and (2) the nonhereditary congenital type, which consists of two groups, osteogenesis imperfecta congenita and osteogenesis imperfecta tarda.