{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:38:18Z","timestamp":1790199498705,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.26.1.37","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"37-44","source":"Crossref","is-referenced-by-count":56,"title":["Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey."],"prefix":"10.1136","volume":"26","author":[{"suffix":"Jr","given":"P E","family":"Andersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Hauge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1989,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1302\/0301-620X.67B1.3155744","article-title":"The prevalence of skeletal dysplasias. 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Clin Orthop 1981;159:11-25.","journal-title":"Clin Orthop"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1136\/jmg.16.2.140","volume":"16","author":"Achondroplasia; hypochondroplasia","year":"1979","unstructured":"Achondroplasia and hypochondroplasia. J Med Genet 1979; 16:140-6.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/BF02388364","article-title":"Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature","volume":"15","author":"Kozlowski, K.; Warren, P.S.; Fisher, C.C.","year":"1985","unstructured":"Kozlowski K, Warren PS, Fisher CC. Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature. 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Diagnosis and management"},{"key":"ref_9","first-page":"149","article-title":"Atlas of skeletal dysplasias","volume":"47","author":"Wynne-Davies, R.; Hall, C.M.; Apley, A.G.","year":"1985","unstructured":"Wynne-Davies R, Hall CM, Apley AG. Atlas of skeletal dysplasias. Edinburgh: Churchill Livingstone, 1985. Johnston CC Jr, Lavy N, Lord T, Vellios F, Merrit AD, Deiss WP. Osteopetrosis. A clinical, genetic, metabolic and morphologic study of the dominant inherited, benign form. Medicine (Baltimore) 1968;47:149-67.","journal-title":"Medicine (Baltimore); A clinical, genetic, metabolic and morphologic study of the dominant inherited, benign form"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1148\/radiology.164.1.3588909","article-title":"Heterogeneity of autosomal dominant osteopetrosis","volume":"164","author":"PE, Jr, Andersen; J, Bollerslev","year":"1987","unstructured":"Andersen PE Jr, Bollerslev J. Heterogeneity of autosomal dominant osteopetrosis. Radiology 1987;164:223-5.","journal-title":"Radiology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/BF00356957","article-title":"Chondrodysplasia punctata. Reports of two cases","volume":"16","author":"PE, Jr, Andersen; P, Justesen","year":"1987","unstructured":"Andersen PE Jr, Justesen P. Chondrodysplasia punctata. Reports of two cases. Skeletal Radiol 1987;16:223-6.","journal-title":"Skeletal Radiol"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/01241398-198307000-00005","article-title":"Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda","volume":"3","author":"Crossan, J.F.; Wynne-Davies, R.; Fulford, G.E.","year":"1983","unstructured":"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;3:297-301.","journal-title":"J Pediatr Orthop"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"427","DOI":"10.2214\/ajr.142.2.427","article-title":"Bone dysplasias: not so rare, definitely important","volume":"142","author":"Poznanski, A.K.","year":"1984","unstructured":"Poznanski AK. Bone dysplasias: not so rare, definitely important. 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