An interactive atlas of three-dimensional syndromic facial morphology.

Autor:	Aponte JD; Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; DeepSurface AI Inc., Calgary, AB, Canada., Bannister JJ; DeepSurface AI Inc., Calgary, AB, Canada., Hoskens H; Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Matthews H; Department of Human Genetics, KU Leuven, Leuven, Belgium., Katsura K; Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA., Da Silva C; Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Cruz T; DeepSurface AI Inc., Calgary, AB, Canada., Pilz JHM; DeepSurface AI Inc., Calgary, AB, Canada., Spritz RA; Department of Pediatrics and the Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA., Forkert ND; Department of Radiology and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Claes P; Department of Human Genetics, KU Leuven, Leuven, Belgium; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium., Bernier FP; Department of Medical Genetics and the Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Klein OD; Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA; Department of Pediatrics, Cedars-Sinai Guerin Children's, Los Angeles, CA, USA., Katz DC; Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; DeepSurface AI Inc., Calgary, AB, Canada., Hallgrímsson B; Department of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: bhallgri@ucalgary.ca.
Jazyk:	angličtina
Zdroj:	American journal of human genetics [Am J Hum Genet] 2024 Jan 04; Vol. 111 (1), pp. 39-47.
DOI:	10.1016/j.ajhg.2023.11.011
Abstrakt:	Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides three-dimensional, dynamic visualizations for the characteristic craniofacial effects of 95 syndromes. Users can visualize syndrome facial appearance estimates quantified from data and easily compare craniofacial phenotypes of different syndromes. Our application also provides a map of morphological similarity between a target syndrome and other syndromes. Finally, users can upload 3D facial scans of individuals and compare them to our syndrome atlas estimates. In summary, we provide an interactive reference for the craniofacial phenotypes of syndromes that allows for precise, individual-specific comparisons of dysmorphology. Competing Interests: Declaration of interests J.D.A., D.C.K., T.C., and J.H.M.P. are employees of DeepSurfaceAI, a company that uses 3D facial imaging and analysis to develop software that aids plastic craniofacial surgery. J.D.A., J.J.B., D.C.K., N.D.F., and B.H. have a financial stake in this company. DeepSurfaceAI is not currently engaged in the use of facial imaging for syndrome diagnosis and has no immediate plans to do so. (Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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