• 1 Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland
  • 2 Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia
  • 3 Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil
  • 4 Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
  • 5 Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China
  • 6 Division of Human Genetics, University of Cape Town, Cape Town, South Africa
  • 7 Greenwood Genetic Center, Greenwood, South Carolina
  • 8 Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia
  • 9 Department of Genetics, University of Pretoria, Pretoria, South Africa
  • 10 Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China
  • 11 Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 12 Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia
  • 13 Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco
  • 14 Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
  • 15 Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
  • 16 National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay
  • 17 Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
  • 18 Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore
  • 19 Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
  • 20 Research Department, Hospital San Juan de Dios (CCSS), San José, Costa Rica
  • 21 Medical Genetics and Metabolism Department, Hospital Nacional de Niños (CCSS), San José, Costa Rica
  • 22 Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt
  • 23 Clinical Genetics Department, National Research Centre, Cairo, Egypt
  • 24 Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India
  • 25 Kapi'olani Medical Center for Women and Children, Honolulu, Hawaii
  • 26 Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta
  • 27 Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
  • 28 School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana
  • 29 Instituto Nacional de Salud del Niño, Lima, Peru
  • 30 Institut Jérôme Lejeune, Paris, France
  • 31 National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri
  • 32 Department of Genetics, University Medical Centre, Utrecht, Utrecht, The Netherlands
  • 33 Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland
  • 34 Department of Pediatrics (Genetics Division), University of Nevada School of Medicine, Las Vegas, Nevada
Am. J. Med. Genet. A, 2018 05;176(5):1128-1136.
PMID: 29681090 DOI: 10.1002/ajmg.a.38672


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 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.