@article{e81e340cdc43493490eefe1e850814a1,
title = "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 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.",
author = "Matthews, {Harold S.} and Palmer, {Richard L.} and Baynam, {Gareth S.} and Quarrell, {Oliver W.} and Klein, {Ophir D.} and Spritz, {Richard A.} and Hennekam, {Raoul C.} and Susan Walsh and Mark Shriver and Weinberg, {Seth M.} and Benedikt Hallgrimsson and Peter Hammond and Penington, {Anthony J.} and Hilde Peeters and Claes, {Peter D.}",
note = "Funding Information: We acknowledge the contributions of: 3D photographers Robert Reitmaier and Lloyd Ellis to the collection of the AHEAD database and Dr. Judith Allanson and Prof. Michael Patton for their contribution to the collection of the sample of Costello syndrome used in the supplementary analyses. RCH and MCRI personnel, data collection and analysis were supported by an Australian National Health and Medical Research Council Postgraduate Scholarship (1133177; HSM) and the Royal Children{\textquoteright}s Hospital Foundation (2013–127; AJP). The KU Leuven research team and analyses were supported by the National Institutes of Health (1-R01-DE027023, 2-R01-DE027023; SMW), the research fund KU Leuven (BOF-C1, C14/15/081 & C14/20/081; PDC) and the Research Program of the Research Foundation Flanders (Belgium) (FWO, G078518N; PDC). HP is a senior clinical investigator of the FWO (18B1521N). The University of Pittsburgh research team and data collection was supported by the National Institute of Dental and Craniofacial research (U01-DE020078, R01-DE016148, R01-DE027023; SMW). The IUPUI research team and data collection was supported by the National Institute of Justice (2014-DN-BX-K031, 2018-DU-BX-0219; SW). Publisher Copyright: {\textcopyright} 2021, The Author(s).",
year = "2021",
month = dec,
day = "1",
doi = "https://doi.org/10.1038/s41598-021-91465-z",
language = "English",
volume = "11",
journal = "Scientific reports",
issn = "2045-2322",
publisher = "Springer Nature",
number = "1",
}