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

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.

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique.

One hundred and one patients with complete or incomplete cleft lip underwent the anatomical subunit approximation technique for repair. The patients were followed up prospectively for 1year. The objective of this study was to determine the outcomes for the nasolabial area through anthropometric measurements and assessment of the Asher-McDade Aesthetic Index and Steffensen's criteria at 1year after surgery. Six assessors (three cleft surgeons and three non-surgeon medical professionals) examined cropped images; reliability was assessed using Cronbach's alpha. The difference in lip length between the healthy and operated sides was 0.61mm and the difference in nostril diameter was 0.37mm (differences not significant). The average scar width was 2.78±1.35mm. Hypertrophic scars were observed in 9.9% of cases. The average Asher-McDade Aesthetic Index rating varied between 1.35 and 1.98 for all parameters. Cronbach's alpha coefficient was 0.83, 0.89, 0.98, and 0.89 for nasal form, nasal symmetry, vermilion border, and nasolabial profile, respectively. Steffensen's criteria rated appearance as 'good' in 69.3% to 91.1% of cases. The anatomical subunit approximation technique can be performed in Sub-Saharan Africans for all types of unilateral cleft lip. It significantly improves the length of the medial and lateral lips, leaving an acceptable scar. A study with a larger sample size and longer follow-up is warranted.