Turner syndrome in diverse populations
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Date
2019-12-19
Authors
Badoe, E.
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.
Journal Title
Journal ISSN
Volume Title
Publisher
American Journal of Medical Genetics
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
Description
Research article
Keywords
diverse populations, facial analysis technology, health disparities, Turner syndrome