Osteogenesis imperfecta: a genetic, radiological, and epidemiological study

Abstract

The point prevalence at birth of osteogenesis imperfecta was estimated by a systematic search of all children born 1. I. 1970 to 31. XII. 1983 in the county of Fyn (Denmark). Additionally, the population prevalence on 31. XII. 1983 of all patients with osteogenesis imperfecta in this county was determined. The county is a well-defined, representative subregion of Denmark which demographically comprises a cross-section including about 9% of the Danish population. Altogether, the study disclosed 48 patients with osteogenesis imperfecta. Of these, 17 patients were born 1. I. 1970 to 31. XII. 1983 and 12 had type I, 2 had type II, 2 had type III, and 1 had type IV. Thus, the point prevalence at birth was 21.8/100,000 and the population prevalence was 10.6/100,000 inhabitants. There was great variation in the clinical manifestations within and between the types.