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Clin Genet. 2017 Aug;92(2):166-171. doi: 10.1111/cge.12948. Epub 2017 Jan 16.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

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Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
Institut National de Recherche Biomédicale, Kinshasa, DR Congo.
School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
Sendwe University Hospitals, University of Lubumbashi, Lubumbashi, DR Congo.
Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Butare, Rwanda.
Département de Génétique, CHU Paris - Hôpital Robert Debré, Paris, France.


The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.


DR Congo; Down syndrome; Face2Gene; dysmorphology; facial dysmorphism; gestalt

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