Andersen P E, Hauge M
Department of Diagnostic Radiology, Odense University Hospital, Denmark.
Clin Genet. 1989 Oct;36(4):250-5. doi: 10.1111/j.1399-0004.1989.tb03198.x.
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.
通过系统检索1970年1月1日至1983年12月31日在丹麦菲英岛出生的所有儿童，估算成骨不全症的出生时点患病率。此外，还确定了1983年12月31日该岛所有成骨不全症患者的人群患病率。该岛是丹麦一个界限明确、具有代表性的分区，从人口统计学角度看，它包含了约9%的丹麦人口，是一个横断面。该研究共发现48例成骨不全症患者。其中，17例患者于1970年1月1日至1983年12月31日出生，其中I型12例，II型2例，III型2例，IV型1例。因此，出生时点患病率为21.8/10万，人群患病率为10.6/10万居民。各型之间以及各型内部的临床表现差异很大。
