Feet edema and growth retardation in Turner syndrome by prenatal ultrasonography: a case report and literature review

Feet edema and growth retardation in Turner syndrome by prenatal ultrasonography: a case report and literature review | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Feet edema and growth retardation in Turner syndrome by prenatal ultrasonography: a case report and literature review Jing Ma, Li Liang, Shanshan Liu, Kailin Yan, Xi Liu, Li Zhang This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4536573/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 3 You are reading this latest preprint version Abstract Background : Turner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, is a sex chromosome abnormality caused by a complete/partial absence of the second sex chromosome with complete X chromosome. The most common findings by prenatal ultrasonography of TS include thickened nuchal translucency, cystic hygroma, cardiovascular system abnormalities, urinary system diseases, and growth retardation. Case presentation: We present a unique case of TS with the ultrasonographic features of dorsal skin edema on both feet and a progressive intrauterine growth retardation (IUGR) at the second trimester of spontaneous pregnant. We performed an extensive review of prenatal ultrasound features of TS cases from MEDLINE (PUBMED) published in English between 2000-2024 to prove this case's uniqueness. A 29-year-old pregnant woman with her second pregnancy after a previous missed abortion presented as the prenatal ultrasound exam for fetal structural anomalies at 24+3 weeks gestation revealed an edema of the dorsal skin on both feet and a short long bone of both femur and humerus for gestational age. Nuchal translucency (NT) measurement at week 13+6 was 1.3mm and fetal echocardiography at week 24+2 showed normal. There were no markedly abnormal findings in the results of non-invasive prenatal test (NIPT) cell-free fetal DNA (cff-DNA) at 14+6 weeks. Then, amniocentesis was performed and the results confirmed Turner syndrome with a 45,X karyotype. The final review included 11 with a total number of 884 cases were identified, among which central lymphedema such as increased nuchal translucency or cystic hygroma is the typical finding with TS by ultrasonographic examination. Peripheral lymphedema resulting in fetal substantial swelling in feet was reported in 3 cases. Fetal feet edema accompanied with growth retardation are extremely rare. Conclusions : Peripheral lymphedema such as feet edema accompanied with long bone-involved growth retardation is rare but recognized features by prenatal ultrasonography, which should be considered as an index of chromosomal abnormalities in fetus with TS. Turner syndrome Ultrasound Prenatal diagnosis Case report Lymphedema Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Editor assigned by journal 07 Jun, 2024 Submission checks completed at journal 07 Jun, 2024 First submitted to journal 05 Jun, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4536573","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":311765733,"identity":"761e9ea9-3459-4677-9f5a-ddf45ce6c799","order_by":0,"name":"Jing Ma","email":"","orcid":"","institution":"Air Force Medical University","correspondingAuthor":false,"prefix":"","firstName":"Jing","middleName":"","lastName":"Ma","suffix":""},{"id":311765734,"identity":"ec2b227f-9e19-4d1c-ae34-95bc042fcc91","order_by":1,"name":"Li Liang","email":"","orcid":"","institution":"Air Force Medical 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Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Turner syndrome, Ultrasound, Prenatal diagnosis, Case report, Lymphedema","lastPublishedDoi":"10.21203/rs.3.rs-4536573/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4536573/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e: Turner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, is a sex chromosome abnormality caused by a complete/partial absence of the second sex chromosome with complete X chromosome. The most common findings by prenatal ultrasonography of TS include thickened nuchal translucency, cystic hygroma, cardiovascular system abnormalities, urinary system diseases, and growth retardation. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase presentation: \u003c/strong\u003eWe present a unique case of TS with the ultrasonographic features of dorsal skin edema on both feet and a progressive intrauterine growth retardation (IUGR) at the second trimester of spontaneous pregnant. We performed an extensive review of prenatal ultrasound features of TS cases from MEDLINE (PUBMED) published in English between 2000-2024 to prove this case's uniqueness.\u0026nbsp; A 29-year-old pregnant woman with her second pregnancy after a previous missed abortion presented as the prenatal ultrasound exam for fetal structural anomalies at 24+3 weeks gestation revealed an edema of the dorsal skin on both feet and a short long bone of both femur and humerus for gestational age. 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