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

doi:10.1016/j.jcms.2024.02.010

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Article

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

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery - 1 Oct 2024

Hennocq Quentin, Paternoster Giovanna, Collet Corinne, Amiel Jeanne, Bongibault Thomas, Bouygues Thomas, Cormier-Daire Valérie, Douillet Maxime, Dunaway David J, Jeelani Nu Owase, van de Lande Lara S, Lyonnet Stanislas, Ong Juling, Picard Arnaud, Rickart Alexander J, Rio Marlène, Schievano Silvia, Arnaud Eric, Garcelon Nicolas, Khonsari Roman H

Abstract excerpt

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...

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PMID: 39187417
DOI: 10.1016/j.jcms.2024.02.010

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