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Article: Turner syndrome in diverse populations

TitleTurner syndrome in diverse populations
Authors
Keywordsdiverse populations
facial analysis technology
health disparities
Turner syndrome
Issue Date2020
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2020, v. 182 n. 2, p. 303-313 How to Cite?
AbstractTurner 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.
Persistent Identifierhttp://hdl.handle.net/10722/281230
ISSN
2019 Impact Factor: 2.125
2015 SCImago Journal Rankings: 1.115

 

DC FieldValueLanguage
dc.contributor.authorKruszka, P-
dc.contributor.authorAddissie, YA-
dc.contributor.authorTekendo-Ngongang, C-
dc.contributor.authorJones, KL-
dc.contributor.authorSavage, SK-
dc.contributor.authorGupta, N-
dc.contributor.authorSinsena, ND-
dc.contributor.authorDissanayake, VHW-
dc.contributor.authorPaththirnige, CS-
dc.contributor.authorAravena, T-
dc.contributor.authorNampoothiri, S-
dc.contributor.authorYesodharan, D-
dc.contributor.authorGirisha, KM-
dc.contributor.authorPatil, SJ-
dc.contributor.authorJamuar, SS-
dc.contributor.authorGoh, JCY-
dc.contributor.authorUtari, A-
dc.contributor.authorSihombing, N-
dc.contributor.authorMishra, R-
dc.contributor.authorChitrakar, NS-
dc.contributor.authorInele, BC-
dc.contributor.authorLulseged, E-
dc.contributor.authorMegarbane, A-
dc.contributor.authorUwineza, A-
dc.contributor.authorOyenusi, EE-
dc.contributor.authorOlopade, OB-
dc.contributor.authorFasanmade, OA-
dc.contributor.authorDuenas-Roque, MM-
dc.contributor.authorThong, MK-
dc.contributor.authorTung, JYL-
dc.contributor.authorMok, GTK-
dc.contributor.authorFleischer, N-
dc.contributor.authorRwegerera, GM-
dc.contributor.authorde Herreros, MB-
dc.contributor.authorWatts, J-
dc.contributor.authorFieggen, K-
dc.contributor.authorHuckstadt, V-
dc.contributor.authorMoresco, A-
dc.contributor.authorObregon, MG-
dc.contributor.authorHussen, DF-
dc.contributor.authorAshaat, NA-
dc.contributor.authorAshaat, EA-
dc.contributor.authorChung, BHY-
dc.contributor.authorBadoe, E-
dc.contributor.authorFaradz, SMH-
dc.contributor.authorEl Ruby, MO-
dc.contributor.authorShotelersuk, V-
dc.contributor.authorWonkam, A-
dc.contributor.authorEkure, EN-
dc.contributor.authorPhadke, SR-
dc.contributor.authorRichieri-Costa, A-
dc.contributor.authorMuenke, M-
dc.date.accessioned2020-03-09T09:51:53Z-
dc.date.available2020-03-09T09:51:53Z-
dc.date.issued2020-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2020, v. 182 n. 2, p. 303-313-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/281230-
dc.description.abstractTurner 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.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectdiverse populations-
dc.subjectfacial analysis technology-
dc.subjecthealth disparities-
dc.subjectTurner syndrome-
dc.titleTurner syndrome in diverse populations-
dc.typeArticle-
dc.identifier.emailTung, JYL: tungylj@HKUCC-COM.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61461-
dc.identifier.pmid31854143-
dc.identifier.scopuseid_2-s2.0-85076760715-
dc.identifier.hkuros309267-
dc.identifier.volume182-
dc.identifier.issue2-
dc.identifier.spage303-
dc.identifier.epage313-
dc.publisher.placeUnited States-

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