Evidence map›Paper›PMID 34108542›Full record

ArticleScientific reports2021

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

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 and 5 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
11.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 37 citations in OpenAlex.

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  17. Frem1 activity is regulated by Sonic hedgehog signaling in the cranial neural crest mesenchyme during midfacial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2023
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 12 institutions in 6 countries.

Harold S MatthewsDepartment of Human Genetics, KU Leuven, 3000, Leuven, Belgium. harry.matthews@kuleuven.be.
Richard L PalmerSchool of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, 6845, Australia.
Gareth S BaynamSchool of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, 6845, Australia.
Oliver W QuarrellDept Clinical Genetics, Sheffield Children's NHS Trust, OPDII Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.
Ophir D KleinProgram in Craniofacial Biology, Departments of Orofacial Sciences and Pediatrics, and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Richard A SpritzHuman Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.
Raoul C HennekamDepartment of Pediatrics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Susan WalshDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN, 46202, USA.
Mark ShriverDepartment of Anthropology, Pennsylvania State University, State College, PA, 16802, USA.
Seth M WeinbergCenter for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, 15219, USA.
Benedikt HallgrimssonDepartment of Cell Biology & Anatomy, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, T2T 4N1, Canada.
Peter HammondDepartment of Human Genetics, KU Leuven, 3000, Leuven, Belgium.
Anthony J PeningtonFacial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia.
Hilde PeetersDepartment of Human Genetics, KU Leuven, 3000, Leuven, Belgium.
Peter D ClaesDepartment of Human Genetics, KU Leuven, 3000, Leuven, Belgium.
KU Leuven · BEAlberta Children's Hospital · CACurtin University · AUIndiana University – Purdue University Indianapolis · USMurdoch Children's Research Institute · AUNorthern General Hospital · GBPennsylvania State University · USThe Kids Research Institute Australia · AUUniversity of Amsterdam · NLUniversity of California, San Francisco · USUniversity of Colorado Denver · USUniversity of Pittsburgh · US

Funding

Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
The Genetic Architecture of Human Facial MorphologyR01DE027023 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CLAES, PETER, SHAFFER, JOHN R · 2017 to 2024
$5.2M
3D Analysis of Normal Facial Variation: Data Repository and Genetics (Research)U01DE020078 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2009 to 2013
$2.0M
Foundation for the National Institutes of Health 1-R01-DE027023NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE027023NIDCR NIH HHS U01 DE020078NIDCR NIH HHS U01-DE020078
6 · The paper itself

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.

Indexed as

Models, StatisticalAbnormalities, MultipleAdolescentAdultAgedAged, 80 and overAnthropometryCase-Control StudiesChildChild, PreschoolCraniofacial AbnormalitiesFaceFemaleFollow-Up StudiesGrowth ChartsHumans

Identifiers

PMID34108542
PMCPMC8190313
OpenAlexW3169104082

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.