Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects
Achondroplasia (Acp) is one of the most common forms of osteochondrodysplasia (OCD). The clinical and radiological features of this condition are at present well known, while the frequency and mutation rate have been until now rarely studied. The old estimate reported by Morch (1) is somewhat overestimated as for the diagnostic criteria used (2) since some non-achondroplastic conditions are included (3). More recent estimates of the Acp birth prevalence have been reported by Gardner (4) Oberklaid et al. (5) and Orioli et al. (6).
KeywordsMutation Rate Osteogenesis Imperfecta Skeletal Dysplasia Birth Prevalence Thanatophoric Dysplasia
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- 1.E. T. Morch, “Chondrodystrophic Dwarf in Denmark”, Opera ex Domo Biol. Herd. Hum, Univ. Hafn. Vol. 3, Munksgaard, Copenaghen (1941).Google Scholar
- 3.F. N. Silvermann and S. Brunner, Errors in the diagnosis of achondroplasia, Acta Radiol. (Stockh.) 6:305–321 (1967).Google Scholar
- 6.J. M. Orioli, E. E. Castilla and J. G. Barbosa-Neto, The birth prevalence rates for the skeletal dysplasias, J. Med. Genet. 328 (1986).Google Scholar
- 7.G. Camera and P. Mastroiacovo, Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defectsm: “Skeletal Dysplasias”, Alan R. Liss Inc., New York (1982).Google Scholar
- 8.P. Mastroiacovo, The Italian birth defects monitoring system. Baseline rates based on 283,453 births and some comparisons with other registries, “Epidemiology, early detection ani therapy and environmental factors”, Alan R. Liss Inc., New York (1915).Google Scholar
- 9.International nomenclature of constitutional diseases of bone, Ann. Radiol. 26:456 (1983).Google Scholar
- 12.F. Vogel and R. Rathenberg, Spontaneous mutation in man, in: “Advanced in human genetics”, 223 (1975).Google Scholar
- 14.E. L. Potter and V. Coverstone, Chondrodystrophy fetalis, Am. J. Obstet. Gyn. 65:790 (1948).Google Scholar
- 16.H. Schiemann, “Über Chondrodystrophie (Achondroplasia, Chondrodys-plasie)”, Verlag der Akademie der Wissenschaften und der Literatur in Mainz (Komm, bei Franz Steiner-Verlag, Wiesbaden) (1966).Google Scholar