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The use of 3D face shape modelling in dysmorphology


Facial appearance can be a significant clue in the initial identification of genetic conditions, but their low incidence limits exposure during training and inhibits the development of skills in recognising the facial “gestalt” characteristic of many dysmorphic syndromes. Here we describe the potential of computer-based models of three-dimensional (3D) facial morphology to assist in dysmorphology training, in clinical diagnosis and in multidisciplinary studies of phenotype–genotype correlations.

  • facial dysmorphology
  • 3D shape models

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  • Funding: Professor Hammond’s research is currently funded by the UK charity NewLife and by the US organisations National Institutes of Health (P50 DE016215-01 and Fogarty/NIH R21TW06761-01), Autism Speaks/NAAR and the Angelman Syndrome Foundation.

  • Competing interests: None.

  • Abbreviations:
    dense surface model
    principal component analysis