Osteogenesis imperfecta congenita. Features and prognosis of a heterogenous condition

The clinical and radiographic features of 47 cases of neonatally manifest osteogenesis imperfecta were analyzed. A scoring system was devised to code the degree of skeletal changes. A score of 2.7 and more carried a prospective mortality of 88%. Scores of 2.6 and less were associated with a survival rate of 90%. The prognosis was particularly favourable in a subgroup of patients characterized by marked bowing of the lower extremities, mild involvement of the rest of the skeleton and white sclerae. Neonates with these features tended to have a good long-term prognosis, with few additional fractures and partial or total spontaneous resolution of the limb deformity. The study confirmed the genetic and prognostic heterogeneity of the disorder, which comprises several autosomal dominant and recessive entities.