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Meta-Analysis
. 2018 May;176(5):1128-1136.
doi: 10.1002/ajmg.a.38672.

Williams-Beuren syndrome in diverse populations

Paul Kruszka  1 , Antonio R Porras  2 , Deise Helena de Souza  3 , Angélica Moresco  4 , Victoria Huckstadt  4 , Ashleigh D Gill  1 , Alec P Boyle  2 , Tommy Hu  1 , Yonit A Addissie  1 , Gary T K Mok  5 , Cedrik Tekendo-Ngongang  6 , Karen Fieggen  6 , Eloise J Prijoles  7 , Pranoot Tanpaiboon  8 , Engela Honey  9 , Ho-Ming Luk  10 , Ivan F M Lo  10 , Meow-Keong Thong  11 , Premala Muthukumarasamy  11 , Kelly L Jones  12 , Khadija Belhassan  1   13 , Karim Ouldim  13 , Ihssane El Bouchikhi  13   14 , Laila Bouguenouch  13 , Anju Shukla  15 , Katta M Girisha  15 , Nirmala D Sirisena  16 , Vajira H W Dissanayake  16 , C Sampath Paththinige  16 , Rupesh Mishra  16 , Monisha S Kisling  8 , Carlos R Ferreira  8 , María Beatriz de Herreros  17 , Ni-Chung Lee  18 , Saumya S Jamuar  19 , Angeline Lai  19 , Ee Shien Tan  19 , Jiin Ying Lim  19 , Cham Breana Wen-Min  19 , Neerja Gupta  20 , Stephanie Lotz-Esquivel  21 , Ramsés Badilla-Porras  22 , Dalia Farouk Hussen  23 , Mona O El Ruby  24 , Engy A Ashaat  24 , Siddaramappa J Patil  25 , Leah Dowsett  26 , Alison Eaton  27 , A Micheil Innes  27 , Vorasuk Shotelersuk  28 , Ëben Badoe  29 , Ambroise Wonkam  6 , María Gabriela Obregon  4 , Brian H Y Chung  5 , Milana Trubnykova  30 , Jorge La Serna  30 , Bertha Elena Gallardo Jugo  30 , Miguel Chávez Pastor  30 , Hugo Hernán Abarca Barriga  30 , Andre Megarbane  31 , Beth A Kozel  32 , Mieke M van Haelst  33 , Roger E Stevenson  7 , Marshall Summar  8 , A Adebowale Adeyemo  34 , Colleen A Morris  35 , Danilo Moretti-Ferreira  3 , Marius George Linguraru  2 , Maximilian Muenke  1
Affiliations
Meta-Analysis

Williams-Beuren syndrome in diverse populations

Paul Kruszka et al. Am J Med Genet A. 2018 May.

Abstract

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.

Keywords: Africa; Asia; Latin America; Middle East; Williams; Williams-Beuren; diverse populations; facial analysis technology; syndrome.

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Figures

Figure 1
Figure 1
Facial landmarks on three patients with WBS. Inner facial landmarks are represented in red, while external landmarks are represented in blue. Blue lines indicate the calculated distances. Green circles represent the corners of the calculated angles. Texture features are extracted only from the inner facial landmarks.
Figure 2
Figure 2
Frontal and lateral facial profiles of individuals of African descent with WBS. Gender, age, and country of origin are presented in Supplementary Table I.
Figure 3
Figure 3
Frontal and lateral facial profiles of Asian individuals with WBS. Gender, age, and country of origin are presented in Supplementary Table I.
Figure 4
Figure 4
Frontal and lateral facial profiles of Latin Americans with WBS. Gender, age, and country of origin are presented in Supplementary Table I.
Figure 5
Figure 5
Frontal and lateral facial profiles of individuals from the Middle East with WBS. Gender, age, and country of origin are presented in Supplementary Table I
See this image and copyright information in PMC

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