Turner syndrome in diverse populations
Open accessAbstract
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
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Facial analysis technology has proven effective in diagnosing TS in resource limited countries.
“In resource limited countries, facial analysis technology has proven effective in diagnosing TS. Kruszka et al.99 used the DeepGestalt model100 to differentiate TS from unaffected controls and controls with Noonan syndrome in diverse populations.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [99]
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- Authors
- Kruszka, P., Addissie, Y. A., Tekendo‐Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Aravena, T., Nampoothiri, S., Yesodharan, D., Girisha, K. M., Patil, S. J., Jamuar, S. S., Goh, J. C., Utari, A., Sihombing, N., Mishra, R., Chitrakar, N. S., Iriele, B. C., Lulseged, E., Megarbane, A., Uwineza, A., Oyenusi, E. E., Olopade, O. B., Fasanmade, O. A., Duenas‐Roque, M. M., Thong, M., Tung, J. Y. L., Mok, G. T. K., Fleischer, N., Rwegerera, G. M., de Herreros, M. B., Watts, J., Fieggen, K., Huckstadt, V., Moresco, A., Obregon, M. G., Hussen, D. F., Ashaat, N. A., Ashaat, E. A., Chung, B. H. Y., Badoe, E., Faradz, S. M. H., El Ruby, M. O., Shotelersuk, V., Wonkam, A., Ekure, E. N., Phadke, S. R., Richieri‐Costa, A., & Muenke, M.
- Affiliations
- National Institutes of Health (US)
- Children's Hospital of The King's Daughters (US)
- FDNA Inc. Boston Massachusetts
- All India Institute of Medical Sciences (IN)
- University of Colombo (LK)
- Hospital Clínico de la Universidad de Chile (CL)
- Amrita Institute of Medical Sciences and Research Centre (IN)
- Manipal Academy of Higher Education (IN)
- Mazumdar Shaw Medical Centre (IN)
- SingHealth (SG)
- KK Women's and Children's Hospital (SG)
- Diponegoro University (ID)
- Civil Service Hospital (NP)
- Institut Jérôme Lejeune Paris France
- University of Rwanda (RW)
- University of Lagos (NG)
- Servicio de Genética Hospital Nacional Edgardo Rebagliati Martins, EsSalud Lima Peru
- University of Malaya (MY)
- Hong Kong Children's Hospital (HK)
- University of Botswana (BW)
- National Secretariat for the Rights of People with Disabilities (SENADIS) Fernando de la Mora Paraguay
- University of Cape Town (ZA)
- Garrahan Hospital (AR)
- Servicio de Genética Hospital de Pediatría Garrahan Buenos Aires Argentina
- Department of Human Cytogenetics The National Research Centre Cairo Egypt
- Ain Shams University (EG)
- National Research Centre (EG)
- University of Hong Kong (HK)
- Department of Child Health University of Ghana Medical School Accra Ghana
- Clinical Genetics Department The National Research Centre Cairo Egypt
- Chulalongkorn University (TH)
- Sanjay Gandhi Post Graduate Institute of Medical Sciences (IN)
- Hospital for the Rehabilitation of Craniofacial Anomalies São Paulo University Bauru Brazil
- Corresponding author
- Kruszka, Paul
- ORCID
- Kruszka, Paul
- Addissie, Yonit A.
- Tekendo‐Ngongang, Cedrik
- Jones, Kelly L.
- Gupta, Neerja
- Sirisena, Nirmala D.
- Dissanayake, Vajira H. W.
- Paththinige, C. Sampath
- Nampoothiri, Sheela
- Yesodharan, Dhanya
- Girisha, Katta M.
- Patil, Siddaramappa Jagdish
- Jamuar, Saumya Shekhar
- Goh, Jasmine Chew‐Yin
- Utari, Agustini
- Sihombing, Nydia
- Mishra, Rupesh
- Megarbane, Andre
- Uwineza, Annette
- Oyenusi, Elizabeth Eberechi
- Olopade, Oluwarotimi Bolaji
- Fasanmade, Olufemi Adetola
- Thong, Meow‐Keong
- Tung, Joanna Y. L.
- Fleischer, Nicole
- Rwegerera, Godfrey M.
- Fieggen, Karen
- Huckstadt, Victoria
- Moresco, Angélica
- Ashaat, Neveen A.
- Ashaat, Engy A.
- Chung, Brian H. Y.
- Faradz, Sultana M. H.
- Shotelersuk, Vorasuk
- Wonkam, Ambroise
- Ekure, Ekanem Nsikak
- Phadke, Shubha R.
- Muenke, Maximilian
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2019-12-19
- Volume
- 182
- Issue
- 2
- Pages
- 303-313
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC8141514
- OpenAlex
- W2995374703
- Cited by
- 27
- References
- 46
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 6 · 2023: 5 · 2022: 2 · 2021: 4 · 2020: 4
- FWCI
- 1.51
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Universidad de Chile (submittedVersion, cc-by-nc-nd)
- Funders
- National Human Genome Research Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Turner syndrome, Noonan syndrome, facial analysis, face recognition, short stature, cubitus valgus, multiple congenital anomalies, X chromosome deletion, diagnostic accuracy
- MeSH terms
- Abnormalities, Multiple, Facial Recognition, Adolescent, Adult, Child, Child, Preschool, Face, Female, Hispanic or Latino, Humans, Infant, Infant, Newborn, Male, Middle Aged, Noonan Syndrome, Phenotype, Population Surveillance, Turner Syndrome, Chromosomes, Human, X, White People, Asian People, Young Adult
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