UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at http://www.ucl.ac.uk/finance/research/post_award/post_award_contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Discriminating power of localized three-dimensional facial morphology
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Smith JC, Donnai D, Karmiloff-Smith AK, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith ACM, Stevens AF, Temple IK, Hennekam R, Tassabehji M
  • Publisher:
    University of Chicago Press
  • Publication date:
    01/12/2005
  • Pagination:
    999, 1010
  • Journal:
    The American Journal of Human Genetics
  • Volume:
    77
  • Issue:
    6
  • Print ISSN:
    0002-9297
  • Keywords:
    Facial, Facial morphology, INF, Morphology, Three-dimensional, 22Q11, 696, A, AND, CLINICAL, COMPARISON, CONTROL, DELETION, DIAGNOSIS, DISCRIMINATION, dysmorphology, Face, FEATURES, Genetic, INDIVIDUALS, IS, MODEL, models, MOLECULAR, Noonan, Noonan Syndrome, OF, PATTERN, prediction, RECOGNITION, SHAPE, SUPPORT, SURFACE, Syndrome, THE, TRAINING, Use, Williams
  • Notes:
    JDEC
Abstract
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups. However, the full power of the DSM approach is demonstrated by the comparable discriminating abilities of localized facial features, such as periorbital, perinasal, and perioral patches, and the correlation of DSM-based predictions and molecular findings. This study demonstrates the potential of face shape models to assist clinical training through visualization, to support clinical diagnosis of affected individuals through pattern recognition, and to enable the objective comparison of individuals sharing other phenotypic or genotypic properties
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Dept of Computer Science
Author
Developmental Biology & Cancer Dept
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by