AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

INTRODUCTION: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Ar...

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Detalles Bibliográficos
Autores principales: Hennocq, Quentin, Bongibault, Thomas, Marlin, Sandrine, Amiel, Jeanne, Attie-Bitach, Tania, Baujat, Geneviève, Boutaud, Lucile, Carpentier, Georges, Corre, Pierre, Denoyelle, Françoise, Djate Delbrah, François, Douillet, Maxime, Galliani, Eva, Kamolvisit, Wuttichart, Lyonnet, Stanislas, Milea, Dan, Pingault, Véronique, Porntaveetus, Thantrira, Touzet-Roumazeille, Sandrine, Willems, Marjolaine, Picard, Arnaud, Rio, Marlène, Garcelon, Nicolas, Khonsari, Roman H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469912/
https://www.ncbi.nlm.nih.gov/pubmed/37664547
http://dx.doi.org/10.3389/fped.2023.1171277

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