Osteogenesis imperfecta congenita in dizygotic twins.

Osteogenesis imperfecta is a disease characterized by increased fragility of the bones which are easily fractured by slight trauma. Patients suffering from this disorder usually have blue sclerae and flaccid ligaments; some of them become deaf later in life. Scattered reports of this disorder date back at least to 1678 (quoted by Seedorff in 1949). Vrolik (1849) described the disease in the newborn infant. Although osteogenesis imperfecta is a generalized bone disease that is present from birth, clinical and radiological features seem to differ quite prominently in the various age-groups. Luck (1950) divided it for the sake of clarity into four groups, according to the age of onset, but admitted that there was no clear-cut demarcation between them. These groups included: osteogenesis imperfecta congenitalis, infantis, tarda and adulta. The first type 'osteogenesis imperfecta congenita' presents a characteristic clinical picture which represents the extreme examples of the disease. In this form, fracture deformities may occur in utero or the bones may break during parturition. Many of the cases of osteogenesis imperfecta congenita are stillborn or succumb shortly after birth. Whereas the infantile, tarda and adulta types of the disease follow a dominant Mendelian trait, the hereditary aspects of osteogenesis imperfecta congenita are usually not considered to be prominent. Because of the early death of most infants with the congenital type of osteogenesis imperfecta, heredity does not usually appear to play an important role. Goldfarb and Ford (1954) for these reasons reported two consecutive female siblings with congenital osteogenesis imperfecta, one living to the age of 5 months and the other to approximately 51 months. Both had evidence of fractures in intrauterine life, further fractures following birth, characteristic skull changes and blue sclerae. Recently, Awwaad and Reda (1960) described two similar cases of congenital osteogenesis imperfecta in one sibship. It thus appears very interesting to report on dizygotic twins with osteogenesis imperfecta congenita; to our knowledge, the first to be mentioned in the literature.