AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.

Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
PMID: 39187417

Abstract

Apert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an innovative model using artificial intelligence (AI)-based methods on two-dimensional facial frontal, lateral, and external ear photographs to assist diagnosis for syndromic craniosynostoses vs controls, and (2) to screen for genotype/phenotype correlations in AS, CS, and PS. We included retrospectively and prospectively, from 1979 to 2023, all frontal and lateral pictures of patients genetically diagnosed with AS, CS, MS, PS and SCS syndromes. After a deep learning-based preprocessing, we extracted geometric and textural features and used XGboost (eXtreme Gradient Boosting) to classify patients. The model was tested on an independent international validation set of genetically confirmed patients and non-syndromic controls. Between 1979 and 2023, we included 2228 frontal and lateral facial photographs corresponding to 541 patients. In all, 70.2% [0.593-0.797] (p < 0.001) of patients in the validation set were correctly diagnosed. Genotypes linked to a splice donor site of FGFR2 in Crouzon-Pfeiffer syndrome (CPS) caused a milder phenotype in CPS. Here we report a new method for the automatic detection of syndromic craniosynostoses using AI.

Authors

  • Quentin Hennocq
    Imagine Institute, INSERM UMR1163, 75015, Paris, France. quentin.hennocq@aphp.fr.
  • Giovanna Paternoster
    Imagine Institute, INSERM UMR1163, 75015, Paris, France; Département de neurochirurgie, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.
  • Corinne Collet
    Département de génétique moléculaire, Hôpital Robert Debré, Université de Paris Cité, Paris, France.
  • Jeanne Amiel
    Imagine Institute, INSERM UMR1163, 75015, Paris, France.
  • Thomas Bongibault
    Imagine Institute, INSERM UMR1163, 75015, Paris, France.
  • Thomas Bouygues
    Imagine Institute, INSERM UMR1163, 75015, Paris, France.
  • Valerie Cormier-Daire
    Reference Centre for Constitutional Bone Diseases, laboratory of Osteochondrodysplasia, INSERM UMR 1163, Imagine Institute, Université de Paris, Paris, France.
  • Maxime Douillet
    Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • David J Dunaway
    1 University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
  • Nu Owase Jeelani
    UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK.
  • Lara S van de Lande
    1 University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
  • Stanislas Lyonnet
    Imagine Institute, INSERM UMR1163, 75015, Paris, France.
  • Juling Ong
    UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK.
  • Arnaud Picard
    Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Alexander J Rickart
    UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK.
  • Marlène Rio
    Imagine Institute, INSERM UMR1163, 75015, Paris, France.
  • Silvia Schievano
    UCL Great Ormond Street Institute of Child Health, London, UK.
  • Eric Arnaud
    Département de neurochirurgie, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Faculté de Médecine, Université de Paris Cité, 75015, Paris, France; Clinique Marcel Sembat (Ramsay), Boulogne, France.
  • Nicolas Garcelon
    Plateforme data science - institut des maladies génétiques Imagine, Inserm, centre de recherche des Cordeliers, UMR 1138 équipe 22, institut Imagine, Paris-Descartes, université Sorbonne- Paris Cité, Paris, France.
  • Roman H Khonsari
    Department of Maxillofacial Surgery and Plastic Surgery, Necker - Enfants Malades University Hospital, Paris, France.

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