An interactive atlas of three-dimensional syndromic facial morphology
Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:111 |
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| Enthalten in: |
American journal of human genetics - 111(2024), 1 vom: 04. Jan., Seite 39-47 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Aponte, J David [VerfasserIn] |
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| Links: |
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| Themen: |
3D facial imaging |
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| Anmerkungen: |
Date Completed 08.01.2024 Date Revised 01.02.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1016/j.ajhg.2023.11.011 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
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| 520 | |a Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a 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 | ||
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| 700 | 1 | |a Hoskens, Hanne |e verfasserin |4 aut | |
| 700 | 1 | |a Matthews, Harold |e verfasserin |4 aut | |
| 700 | 1 | |a Katsura, Kaitlin |e verfasserin |4 aut | |
| 700 | 1 | |a Da Silva, Cassidy |e verfasserin |4 aut | |
| 700 | 1 | |a Cruz, Tim |e verfasserin |4 aut | |
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| 700 | 1 | |a Katz, David C |e verfasserin |4 aut | |
| 700 | 1 | |a Hallgrímsson, Benedikt |e verfasserin |4 aut | |
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