{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:42:02Z","timestamp":1791092522054,"version":"4.1.0"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,8]]},"abstract":"<jats:p>This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3\/10 000 was observed. However, several indications of under-registration suggest that the real value is about twice that observed. The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence rate between 0.5 and 1.5\/10 000 births, the thanatophoric dysplasia\/achondrogenesis group (0.2 and 0.5\/10 000 births), and osteogenesis imperfecta (0.4\/10 000 births). The mutation rate for autosomal dominant achondroplasia was estimated at between 1.72 and 5.57 X 10(-5) per gamete per generation.<\/jats:p>","DOI":"10.1136\/jmg.23.4.328","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"328-332","source":"Crossref","is-referenced-by-count":329,"title":["The birth prevalence rates for the skeletal dysplasias."],"prefix":"10.1136","volume":"23","author":[{"given":"I M","family":"Orioli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E E","family":"Castilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J G","family":"Barbosa-Neto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1986,8,1]]},"reference":[{"key":"ref_1","first-page":"307","article-title":"Different types of osteochondrodysplasia in a consecutive series of newborns","volume":"30","author":"Gustavson, K.-H.; Jorulf, H.","year":"1975","unstructured":"Gustavson K-H, Jorulf H. Different types of osteochondrodysplasia in a consecutive series of newborns. Helv Paediatr Acta 1975;30:307-14.","journal-title":"Helv Paediatr Acta"},{"key":"ref_2","article-title":"Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects","author":"Camera, G.; Mastroiacovo, P.","year":"1982","unstructured":"Camera G, Mastroiacovo P. Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects. In: Papadatos CJ, Bartsocas CS, eds. Skeletal dysplasias. New York: Alan R Liss, 1982."},{"key":"ref_3","first-page":"271","article-title":"El Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMCIMONITOR","volume":"8","author":"Castilla, E.E.; Orioli, I.M.","year":"1983","unstructured":"Castilla EE, Orioli IM. El Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMCIMONITOR. Interciencia 1983;8:271-8.","journal-title":"Interciencia"},{"key":"ref_4","article-title":"International classification of diseases. Eighth revision","author":"Organization, World Health","year":"1965","unstructured":"World Health Organization. International classification of diseases. Eighth revision. Geneva: WHO, 1965."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/S0022-3476(78)80897-X","article-title":"International Nomenclature of Constitutional Diseases of Bone","volume":"93","year":"1978","unstructured":"International Nomenclature of Constitutional Diseases of Bone. J Pediatr 1978;93:614-6.","journal-title":"J Pediatr"},{"key":"ref_6","article-title":"Nonparametric statistics for the behavioral sciences","author":"Siegel, S.","year":"1956","unstructured":"Siegel S. Nonparametric statistics for the behavioral sciences. New York: McGraw-Hill, 1956."},{"key":"ref_7","first-page":"45","article-title":"Inbreeding in a SouthAmerican newborn series","volume":"6","author":"Orioli, I.M.; Castilla, E.E.; Carvalho, W.P.","year":"1982","unstructured":"Orioli IM, Castilla EE, Carvalho WP. Inbreeding in a SouthAmerican newborn series. Acta Anthropogenet 1982;6:45-55.","journal-title":"Acta Anthropogenet"},{"key":"ref_8","article-title":"Osteocondrodisplasie genotipiche letali del feto e del neonato","volume-title":"9Documento Final del I Curso Sudamericano de Vigilancia Epidemiologica de Malformaciones Congenitas","author":"Centa, A.; Camera, G.","year":"1975","unstructured":"Centa A, Camera G. Osteocondrodisplasie genotipiche letali del feto e del neonato. Genova: Stringa Editore, 1975. 9Documento Final del I Curso Sudamericano de Vigilancia Epidemiologica de Malformaciones Congenitas y de la XVI"},{"key":"ref_9","article-title":"Reunion Anual del Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC)","year":"1985","unstructured":"Reunion Anual del Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC). Montevideo: Ministerio de Salud Publica del Uruguay\/OPS\/OMS, 1985."},{"key":"ref_10","article-title":"Les maladies osseuses de.l'enfant","author":"Maroteaux, P.","year":"1982","unstructured":"Maroteaux P. Les maladies osseuses de.l'enfant. Paris: Flammarion, 1982."},{"issue":"53","key":"ref_11","first-page":"76","article-title":"Lethal forms of chondrodysplastic dwarfism","volume":"1974","author":"Curran, J.P.; Sigmon, B.A.; Opitz, J.M.","unstructured":"Curran JP, Sigmon BA, Opitz JM. Lethal forms of chondrodysplastic dwarfism. Pediatrics 1974,53:76-85.","journal-title":"Pediatrics"},{"key":"ref_12","article-title":"Chondrodystrophic dwarfs in Denmark","author":"M0rch, E.T.","year":"1941","unstructured":"M0rch ET. Chondrodystrophic dwarfs in Denmark. Copenhagen: Munksgaard, 1941."},{"key":"ref_13","first-page":"11","article-title":"L'osteogenese imparfaite letale","volume":"27","author":"Maroteaux, P.; Cohen-Solal, L.","year":"1984","unstructured":"Maroteaux P, Cohen-Solal L. L'osteogenese imparfaite letale. Ann Genet (Paris) 1984;27:11-5.","journal-title":"Ann Genet (Paris)"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ajmg.1320170206","article-title":"Invited editorial comment. Osteogenesis imperfecta: update and perspective","volume":"17","author":"Byers, P.H.; Bonadio, J.; Steinmann, B.","year":"1984","unstructured":"Byers PH, Bonadio J, Steinmann B. Invited editorial comment. Osteogenesis imperfecta: update and perspective. Am J Med Genet 1984;17:429-35.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.4.328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:26:28Z","timestamp":1759724788000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.4.328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1986,8,1]]},"published-print":{"date-parts":[[1986,8]]}},"alternative-id":["10.1136\/jmg.23.4.328"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.4.328","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}