Article (Scientific journals)
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.
Mubungu, Gerrye; Roelants, Mathieu; Lumaka Zola, Aimé et al.
2022In American Journal of Medical Genetics. Part A
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Keywords :
Congolese newborns; facial dysmorphism; measurable facial characteristic; Genetics (clinical); Genetics
Abstract :
[en] The evaluation of dysmorphism is often subjective because many continuous traits are not easily measured or lack normal values. Because many common morphologic profiles vary between populations, population-specific reference ranges of relevant traits are needed. We aim to evaluate the objective assessment of facial dysmorphism in 553 Congolese newborns based on facial measurements. Measurements taken with a ruler were on average larger compared to those with a caliper, but the bias did not depend on the size of the measurement. We therefore introduced a correction factor that allows to use both techniques for facial measurements interchangeably in future studies. The outer canthal distance, palpebral fissure length, and mouth width were significantly larger in Congolese newborns (respectively mean 6.59 [SD 0.48]; mean 2.20 [SD 0.24]; mean 2.78 [SD 0.26]) when compared to references based on European newborns (respectively mean 3.59 [SD 1.76]; mean 4.20 [SD 2.26]; mean 0.47 [SD 1.21]), while the rest of measurements were significantly smaller. The interpupillary distance (IPD) calculated from inner canthal distance and outer canthal distance was not significantly different. We observed a poor agreement between clinical evaluation and measured features (kappa of 0.432). Clinicians were more likely to recognize a face as having wide-spaced eyes when it had been recognized as such during the clinical examination, more than if the child had a high interpupillary distance. This suggests that the measured IPD is not precisely reflecting what is clinically evaluated as wide-spaced eyes.
Disciplines :
Genetics & genetic processes
Pediatrics
Author, co-author :
Mubungu, Gerrye ;  Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium
Roelants, Mathieu;  Environment and Health, Department of Public Health and Primary Care, KU Leuven-University of Leuven, Leuven, Belgium
Lumaka Zola, Aimé  ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine ; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo
Makay, Prince ;  Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium
Tshika, Dahlie;  Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium
Lubala, Toni;  Department of Pediatrics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, Democratic Republic of the Congo
Tshilobo Lukusa, Prosper;  Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo ; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium
Devriendt, Koenraad;  Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium
Language :
English
Title :
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.
Publication date :
20 August 2022
Journal title :
American Journal of Medical Genetics. Part A
ISSN :
1552-4825
eISSN :
1552-4833
Publisher :
Wiley, United States
Peer reviewed :
Peer Reviewed verified by ORBi
Funders :
NIH - National Institutes of Health [US]
Available on ORBi :
since 23 August 2022

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