Abstract
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).
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References
E. T. Morch, “Chondrodystrophic Dwarf in Denmark”, Opera ex Domo Biol. Herd. Hum, Univ. Hafn. Vol. 3, Munksgaard, Copenaghen (1941).
H. M. Slatis, Comments on the rate of mutation to chondrodystrophy in man, Am. J. Hum. Genet. 7:76 (1955).
F. N. Silvermann and S. Brunner, Errors in the diagnosis of achondroplasia, Acta Radiol. (Stockh.) 6:305–321 (1967).
R. J. M. Gardner, A new estimate of the achondroplasia mutation rate, Clin. Genet. 11:31 (1977).
F. Oberklaid, D. M. Danks, F. Jensen, L. Stace and S. Rosshandler, Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate and radiological features in skull and spine, J. Med. Genet. 16:140 (1979).
J. M. Orioli, E. E. Castilla and J. G. Barbosa-Neto, The birth prevalence rates for the skeletal dysplasias, J. Med. Genet. 328 (1986).
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).
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).
International nomenclature of constitutional diseases of bone, Ann. Radiol. 26:456 (1983).
L. S. Penrose, Parental age and mutation, Lancet ii:312 (1955).
J. L. Murdoch, B. A. Walker, J.G. Hall, H. Abbey, K. K. Smith and V. A. McKusick, Achondroplasia — a genetic and statistical survey, Ann. Hum. Genet. Lond., 33:227 (1970).
F. Vogel and R. Rathenberg, Spontaneous mutation in man, in: “Advanced in human genetics”, 223 (1975).
C. Stoll, M. P. Roth and P. Bigel, A reexamination on parental ageeffect on the occurrence of new mutations for Achondroplasia, Prog. Clin. Biol. Res. 104:419 (1982).
E. L. Potter and V. Coverstone, Chondrodystrophy fetalis, Am. J. Obstet. Gyn. 65:790 (1948).
A. C. Stevenson, Achondroplasia: an account of condition in Northern Ireland, Am. J. Hum. Genet. 9:81 (1957).
H. Schiemann, “Über Chondrodystrophie (Achondroplasia, Chondrodys-plasie)”, Verlag der Akademie der Wissenschaften und der Literatur in Mainz (Komm, bei Franz Steiner-Verlag, Wiesbaden) (1966).
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© 1988 Plenum Press, New York
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Camera, G., Mastroiacovo, P. (1988). Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects. In: Nicoletti, B., Kopits, S.E., Ascani, E., McKusick, V.A., Dryburgh, S.C. (eds) Human Achondroplasia. Basic Life Sciences, vol 48. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-8712-1_2
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DOI: https://doi.org/10.1007/978-1-4684-8712-1_2
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