Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm.

Journal: Plastic and reconstructive surgery
Published Date:

Abstract

BACKGROUND: Early detection of rare genetic diseases, including velocardiofacial syndrome (VCFS), is essential for patient well-being. However, the rarity of these diseases and limited clinical experience of physicians make diagnosis challenging. Deep learning algorithms have emerged as promising tools for efficient and accurate diagnosis. This study investigates the use of a deep learning algorithm to develop a face recognition model for diagnosing VCFS.

Authors

  • Rong-Min Baek
    From the Departments of Plastic and Reconstructive Surgery.
  • Anna Cho
    Pediatrics, Seoul National University Bundang Hospital, Seoul National University College of Medicine.
  • Yoon Gi Chung
  • Yonghoon Jeon
  • Hunmin Kim
  • Hee Hwang
  • Jiwon Kang
    From the Departments of Plastic and Reconstructive Surgery.
  • Yujin Myung
    Department of Plastic and Reconstructive Surgery, Seoul National University Bundang Hospital, 82, Gumi-ro 173 Beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do, 13620, Republic of Korea.