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Turner syndrome in diverse populations.


ABSTRACT: 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.

SUBMITTER: Kruszka P 

PROVIDER: S-EPMC8141514 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Turner syndrome in diverse populations.

Kruszka Paul P   Addissie Yonit A YA   Tekendo-Ngongang Cedrik C   Jones Kelly L KL   Savage Sarah K SK   Gupta Neerja N   Sirisena Nirmala D ND   Dissanayake Vajira H W VHW   Paththinige C Sampath CS   Aravena Teresa T   Nampoothiri Sheela S   Yesodharan Dhanya D   Girisha Katta M KM   Patil Siddaramappa Jagdish SJ   Jamuar Saumya Shekhar SS   Goh Jasmine Chew-Yin JC   Utari Agustini A   Sihombing Nydia N   Mishra Rupesh R   Chitrakar Neer Shoba NS   Iriele Brenda C BC   Lulseged Ezana E   Megarbane Andre A   Uwineza Annette A   Oyenusi Elizabeth Eberechi EE   Olopade Oluwarotimi Bolaji OB   Fasanmade Olufemi Adetola OA   Duenas-Roque Milagros M MM   Thong Meow-Keong MK   Tung Joanna Y L JYL   Mok Gary T K GTK   Fleischer Nicole N   Rwegerera Godfrey M GM   de Herreros María Beatriz MB   Watts Johnathan J   Fieggen Karen K   Huckstadt Victoria V   Moresco Angélica A   Obregon María Gabriela MG   Hussen Dalia Farouk DF   Ashaat Neveen A NA   Ashaat Engy A EA   Chung Brian H Y BHY   Badoe Eben E   Faradz Sultana M H SMH   El Ruby Mona O MO   Shotelersuk Vorasuk V   Wonkam Ambroise A   Ekure Ekanem Nsikak EN   Phadke Shubha R SR   Richieri-Costa Antonio A   Muenke Maximilian M  

American journal of medical genetics. Part A 20191219 2


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  ...[more]

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