Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1989 January; 26(1): 37–44.
PMCID: PMC1015534

Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.


The point prevalence at birth of generalised bone dysplasias was estimated by a study of all children born between 1 January 1970 and 31 December 1983 in the county of Fyn (Denmark). Additionally the population prevalence on 31 December 1983 of all patients with generalised bone dysplasias in this county was determined. The county is a well defined, representative subregion of Denmark which demographically comprises a cross section of about 9% of the Danish population. In total, bone dysplasias were found to be more frequent than generally assumed. Achondroplasia was, however, less common with a point prevalence at birth of 1.3 per 100,000, while osteogenesis imperfecta (21.8), multiple epiphyseal dysplasia tarda (9.0), achondrogenesis (6.4), osteopetrosis (5.1), and thanatophoric dysplasia (3.8) were found more frequently. It is striking how many bone dysplasias are still erroneously classified as achondroplasia. Correct diagnosis is important for a valid prognosis, for treatment, and for genetic counselling. The diagnosis relies almost exclusively on the radiographical findings.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.8M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br. 1985 Jan;67(1):133–137. [PubMed]
  • Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet. 1986 Aug;23(4):328–332. [PMC free article] [PubMed]
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101–116. [PMC free article] [PubMed]
  • Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop Relat Res. 1981 Sep;(159):11–25. [PubMed]
  • Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S. Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet. 1979 Apr;16(2):140–146. [PMC free article] [PubMed]
  • Kozlowski K, Warren PS, Fisher CC. Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature. Pediatr Radiol. 1985;15(6):412–414. [PubMed]
  • Whitley CB, Gorlin RJ. Achondrogenesis: new nosology with evidence of genetic heterogeneity. Radiology. 1983 Sep;148(3):693–698. [PubMed]
  • Andersen PE., Jr Achondrogenesis type II in twins. Br J Radiol. 1981 Jan;54(637):61–65. [PubMed]
  • Johnston CC, Jr, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP., Jr Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore) 1968 Mar;47(2):149–167. [PubMed]
  • Andersen PE, Jr, Bollerslev J. Heterogeneity of autosomal dominant osteopetrosis. Radiology. 1987 Jul;164(1):223–225. [PubMed]
  • Andersen PE, Jr, Justesen P. Chondrodysplasia punctata. Report of two cases. Skeletal Radiol. 1987;16(3):223–226. [PubMed]
  • Crossan JF, Wynne-Davies R, Fulford GE. Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. J Pediatr Orthop. 1983 Jul;3(3):297–301. [PubMed]
  • Poznanski AK. Bone dysplasias: not so rare, definitely important. AJR Am J Roentgenol. 1984 Feb;142(2):427–428. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group