Automated Evaluation of D-Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders.

Journal: Annals of human genetics
Published Date: May 15, 2025

Abstract

INTRODUCTION: Dysmorphism is an important characteristic, but its evaluation is largely subjective. A good clinical assessment (dysmorphism) can facilitate a more accurate and efficient diagnosis. We therefore evaluated an automated artificial intelligence tool for facial dysmorphism, D-score, available in Face2Gene.

Authors

  • Prince Makay
    Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
  • Gerrye Mubungu
    Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
  • Prosper Lukusa Tshilobo
    Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
  • Koenraad Devriendt
    Center for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.
  • Aimé Lumaka
    Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.

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