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 1.1. 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 1.1. 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 inhabitans. There was great variation in the clinical manifestations within and between the types.

Osteogenesis imperfecta: Epidemiology and pathophysiology

“…In Great Britain, there are 3400 reported cases. In Denmark, the point prevalence at birth was 21.8 per 100,000 and the population prevalence was 10.6 per 100,000 inhabitants [3]. The database of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) for the years 1978 to 1983 shows that the prevalence rate for OI was 0.4 per 10,000 births [4].…”

Osteogenesis Imperfecta in Children in the Russian Federation: Results of the Federal Registry Audit

“…В Дании проведена оценка частоты рождения детей с НО путем систематического анали-за всех детей, рожденных в период с 1978 по 1983 г. В результате было показано, что частота болезни в попу-ляции составила 21,8 случая на 100 тыс. населения [8].…”

Pathologies génétiques des collagènes et conséquences sur le développement cranio-facial

“…La prévalence de l'OI de type I est de 1 pour 10 000 à 25 000 naissances, mais les formes très modérées peuvent passer inaperçues. Leur fréquence est donc sous-estimée [2,54]. Dans la moitié environ des familles avec type I, on note une perte de l'audition qui se manifeste dès l'enfance et devient totale entre 40 et 50 ans [19].…”