{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T06:16:19Z","timestamp":1792304179582,"version":"4.4.0"},"reference-count":15,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T00:00:00Z","timestamp":1617926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003665","name":"National IT Industry Promotion Agency","doi-asserted-by":"publisher","award":["No. A0602-19-1032"],"award-info":[{"award-number":["No. A0602-19-1032"]}],"id":[{"id":"10.13039\/501100003665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Klippel-Tr\u00e9naunay Syndrome (KTS) is a genetic vascular malformation involving the capillary, lymphatic, and venous channels. Prenatal sonographic diagnosis of KTS with an enlarged fetal limb is well-known; however, postnatal gynecologic manifestations are rarely reported. KTS can cause clitoromegaly, vulvovaginal hemangioma, and heavy menstrual bleeding. Somatic mosaicism of the PIK3CA gene is considered as responsible for KTS but reports based on whole-genome sequencing are limited. A 31-year-old woman with KTS presented with bulging of the clitoris and vagina. Analysis of whole-genome sequencing variant data revealed that gene ontology terms related to development and differentiation such as \u2018skeletal system morphogenesis\u2019, \u2018embryonic morphogenesis\u2019, and \u2018sensory organ development\u2019 were nominally significant in non-coding regions. Variants in non-coding genes may be responsible for this phenotype.<\/jats:p>","DOI":"10.3390\/medicina57040366","type":"journal-article","created":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T10:05:21Z","timestamp":1617962721000},"page":"366","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clitoromegaly, Vulvovaginal Hemangioma Mimicking Pelvic Organ Prolapse, and Heavy Menstrual Bleeding: Gynecologic Manifestations of Klippel-Tr\u00e9naunay Syndrome"],"prefix":"10.3390","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6830-317X","authenticated-orcid":false,"given":"Gina","family":"Nam","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, 102, Heukseok-ro, Dongjak-gu, Seoul 06973, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7890-8348","authenticated-orcid":false,"given":"Sa Ra","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SeungA","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1016\/j.juro.2006.11.099","article-title":"Klippel-Trenaunay syndrome: Incidence and treatment of genitourinary sequelae","volume":"177","author":"Husmann","year":"2007","journal-title":"J. Urol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.clinimag.2020.06.011","article-title":"Genitourinary involvement in pediatric patients with Klippel-Trenaunay syndrome","volume":"67","author":"Patel","year":"2020","journal-title":"Clin. Imaging"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Palmieri, M., Pinto, A.M., di Blasio, L., Curr\u00f2, A., Monica, V., Sarno, L.D., Doddato, G., Baldassarri, M., Frullanti, E., and Giliberti, A. (2020). A pilot study of next generation sequencing\u2013liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel\u2013Trenaunay syndrome. Vascular, 1708538120936421.","DOI":"10.1177\/1708538120936421"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/exd.12826","article-title":"Klippel\u2013Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS)","volume":"25","author":"Vahidnezhad","year":"2016","journal-title":"Exp. 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