Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault, Thomas Bouygues, Sandrine Marlin, Jeanne Amiel, Lucile Boutaud, Maxime Douillet, Stanislas Lyonnet, Vèronique Pingault, Arnaud Picard, Marlèe Rio, Tania Attie-Bitach, Roman H Khonsari, Nathalie Roux
OBJECTIVE: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls. METHOD: We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning...
April 18, 2024: Prenatal Diagnosis