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

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...

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Veröffentlicht in:Journal of cranio-maxillo-facial surgery Jg. 52; H. 10; S. 1172 - 1187
Hauptverfasser: 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.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Scotland Elsevier Ltd 01.10.2024
Schlagworte:
Artificial intelligence
Dysmorphology
Machine learning
Syndromic craniosynostosis
Dysmorphology
Syndromic craniosynostosis
Artificial intelligence
Machine learning
ISSN:1010-5182, 1878-4119, 1878-4119
Online-Zugang:Volltext
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Zusammenfassung: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.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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content type line 23
ISSN:1010-5182
1878-4119
1878-4119
DOI:10.1016/j.jcms.2024.02.010