Latent disentanglement in mesh variational autoencoders improves the diagnosis of craniofacial syndromes and aids surgical planning

Background and objective: The use of deep learning to undertake shape analysis of the complexities of the human head holds great promise. However, there have traditionally been a number of barriers to accurate modelling, especially when operating on both a global and local level. Methods: In this work, we will discuss the application of the Swap Disentangled Variational Autoencoder (SDVAE) with relevance to Crouzon, Apert and Muenke syndromes. The model is trained on a dataset of 3D meshes of healthy and syndromic patients which was increased in size with a novel data augmentation technique based on spectral interpolation. Thanks to its semantically meaningful and disentangled latent representation, SD-VAE is used to analyse and generate head shapes while considering the influence of different anatomical sub-units. Results: Although syndrome classification is performed on the entire mesh, it is also possible, for the first time, to analyse the influence of each region of the head on the syndromic phenotype. By manipulating specific parameters of the generative model, and producing procedure-specific new shapes, it is also possible to approximate the outcome of a range of craniofacial surgical procedures. Conclusion: This work opens new avenues to advance diagnosis, aids surgical planning and allows for the objective evaluation of surgical outcomes. Our code is available at github.com/simofoti/CraniofacialSD-VAE.