Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

Abstract Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require crani...

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Autores principales:	Harold S. Matthews, Richard L. Palmer, Gareth S. Baynam, Oliver W. Quarrell, Ophir D. Klein, Richard A. Spritz, Raoul C. Hennekam, Susan Walsh, Mark Shriver, Seth M. Weinberg, Benedikt Hallgrimsson, Peter Hammond, Anthony J. Penington, Hilde Peeters, Peter D. Claes
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/9ea19e482b9a40fb850f0d90987b746d
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spelling	oai:doaj.org-article:9ea19e482b9a40fb850f0d90987b746d2021-12-02T17:52:41ZLarge-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism10.1038/s41598-021-91465-z2045-2322https://doaj.org/article/9ea19e482b9a40fb850f0d90987b746d2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-91465-zhttps://doaj.org/toc/2045-2322Abstract Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. Facial anthropometric growth curves or standards of single inter-landmark measurements have traditionally supported assessments of normal and abnormal facial shape, for both clinical and research applications. However, these fail to capture the full complexity of facial shape. With the increasing availability of 3D photographs, methods of assessment that take advantage of the rich information contained in such images are needed. In this article we derive and present open-source three-dimensional (3D) growth curves of the human face. These are sequences of age and sex-specific expected 3D facial shapes and statistical models of the variation around the expected shape, derived from 5443 3D images. We demonstrate the use of these growth curves for assessing patients and show that they identify normal and abnormal facial morphology independent from age-specific facial features. 3D growth curves can facilitate use of state-of-the-art 3D facial shape assessment by the broader clinical and biomedical research community. This advance in phenotype description will support clinical diagnosis and the understanding of disease pathogenesis including genotype–phenotype relations.Harold S. MatthewsRichard L. PalmerGareth S. BaynamOliver W. QuarrellOphir D. KleinRichard A. SpritzRaoul C. HennekamSusan WalshMark ShriverSeth M. WeinbergBenedikt HallgrimssonPeter HammondAnthony J. PeningtonHilde PeetersPeter D. ClaesNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Harold S. Matthews Richard L. Palmer Gareth S. Baynam Oliver W. Quarrell Ophir D. Klein Richard A. Spritz Raoul C. Hennekam Susan Walsh Mark Shriver Seth M. Weinberg Benedikt Hallgrimsson Peter Hammond Anthony J. Penington Hilde Peeters Peter D. Claes Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
description	Abstract Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. Facial anthropometric growth curves or standards of single inter-landmark measurements have traditionally supported assessments of normal and abnormal facial shape, for both clinical and research applications. However, these fail to capture the full complexity of facial shape. With the increasing availability of 3D photographs, methods of assessment that take advantage of the rich information contained in such images are needed. In this article we derive and present open-source three-dimensional (3D) growth curves of the human face. These are sequences of age and sex-specific expected 3D facial shapes and statistical models of the variation around the expected shape, derived from 5443 3D images. We demonstrate the use of these growth curves for assessing patients and show that they identify normal and abnormal facial morphology independent from age-specific facial features. 3D growth curves can facilitate use of state-of-the-art 3D facial shape assessment by the broader clinical and biomedical research community. This advance in phenotype description will support clinical diagnosis and the understanding of disease pathogenesis including genotype–phenotype relations.
format	article
author	Harold S. Matthews Richard L. Palmer Gareth S. Baynam Oliver W. Quarrell Ophir D. Klein Richard A. Spritz Raoul C. Hennekam Susan Walsh Mark Shriver Seth M. Weinberg Benedikt Hallgrimsson Peter Hammond Anthony J. Penington Hilde Peeters Peter D. Claes
author_facet	Harold S. Matthews Richard L. Palmer Gareth S. Baynam Oliver W. Quarrell Ophir D. Klein Richard A. Spritz Raoul C. Hennekam Susan Walsh Mark Shriver Seth M. Weinberg Benedikt Hallgrimsson Peter Hammond Anthony J. Penington Hilde Peeters Peter D. Claes
author_sort	Harold S. Matthews
title	Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
title_short	Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
title_full	Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
title_fullStr	Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
title_full_unstemmed	Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
title_sort	large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/9ea19e482b9a40fb850f0d90987b746d
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Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

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