Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study.

@article{Klln1993MonitoringDG,
  title={Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study.},
  author={Bengt K{\"a}ll{\'e}n and Lisbeth B. Knudsen and Osvaldo M. Mutchinick and Pierpaolo Mastroiacovo and P. A. L. Lancaster and Eduardo Enrique Castilla and Elisabeth Robert},
  journal={International journal of epidemiology},
  year={1993},
  volume={22 1},
  pages={107-15}
}
Using data from seven malformation monitoring systems around the world, the feasibility of monitoring fresh dominant mutations using skeletal dysplasias was explored. Based on a total of over 9.5 million births, 1500 infants with skeletal dysplasias were identified (16 per 100,000). In spite of efforts to get exact diagnoses, an average of 21% were unspecified. Comparisons of rates of specific diagnoses in different programmes suggested that classification differed. By analysing maternal age… CONTINUE READING

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