{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:55:56Z","timestamp":1753887356439,"version":"3.41.2"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,27]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Fraser syndrome is a rare congenital malformation characterized by cryptophthalmos, syndactyly and\u00a0urogenital tract malformations. The association with hydrometrocolpos is infrequent, with only a few cases reported in the literature.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n A 19-year-old primigravida presenting at 35\u00a0weeks of gestation, with prenatal finding of hydrometrocolpos associated with hypotelorism and microphthalmia. Pre-term cesarean delivery was performed due\u00a0to breech labor and perinatal death. The autopsy confirmed hydrometrocolpos secondary to vaginal atresia and imperforate hymen, associated with cryptophthalmos, syndactyly, nasal and pinna malformations, confirming the diagnosis of Fraser syndrome.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Fraser syndrome is usually a postnatal diagnosis. The association with genital abnormalities explains the finding of hydrometrocolpos, which could be considered a diagnostic criterion for this syndrome.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/crpm-2022-0038","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T06:53:42Z","timestamp":1678344822000},"source":"Crossref","is-referenced-by-count":1,"title":["Prenatal hydrometrocolpos as an unusual finding in Fraser syndrome. Case report"],"prefix":"10.1515","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6844-4386","authenticated-orcid":false,"given":"Isabella","family":"D\u00e1vila Neri","sequence":"first","affiliation":[{"name":"Universidad De La Sabana, Hospital, Universitario de La Samaritana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana Patricia","family":"Farias Vela","sequence":"additional","affiliation":[{"name":"Universidad De La Sabana, Hospital, Universitario de La Samaritana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael Leonardo","family":"Arag\u00f3n Mendoza","sequence":"additional","affiliation":[{"name":"Hospital Universitario De La Samaritana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Gallo Roa","sequence":"additional","affiliation":[{"name":"Hospital Universitario De La Samaritana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni Carlo","family":"Russo Vizcaino","sequence":"additional","affiliation":[{"name":"Hospital Universitario De La Samaritana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,3,10]]},"reference":[{"key":"2023040401473868666_j_crpm-2022-0038_ref_001","doi-asserted-by":"crossref","unstructured":"Van Haelst, MM, Scambler, PJ, Hennekam, RC, Fraser Syndrome Collaboration Group. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A 2007;143A:3194\u2013203. https:\/\/doi.org\/10.1002\/ajmg.a.31951.","DOI":"10.1002\/ajmg.a.31951"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_002","doi-asserted-by":"crossref","unstructured":"Medel, JM, Pascual, IL, Mateo, SC, Homs, JT. S\u00edndrome de Fraser. Progresos Obstet Ginecol 2010;53:248\u201351. https:\/\/doi.org\/10.1016\/j.pog.2009.01.002.","DOI":"10.1016\/j.pog.2009.01.002"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_003","doi-asserted-by":"crossref","unstructured":"Ikeda, S, Akamatsu, C, Ijuin, A, Nagashima, A, Sasaki, M, Mochizuki, A, et al.. Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2. Hum Genome Var 2020;7:32. https:\/\/doi.org\/10.1038\/s41439-020-00119-5.","DOI":"10.1038\/s41439-020-00119-5"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_004","doi-asserted-by":"crossref","unstructured":"Thomas, IT, Fr\u00edas, JL, F\u00e9lix, V, S\u00e1nchez de Le\u00f3n, L, Hern\u00e1ndez, RA, Jones, MC, et al.. Isolated and syndromic cryptophthalmos. Am J Med Genet 1986;25:85\u201398. https:\/\/doi.org\/10.1002\/ajmg.1320250111.","DOI":"10.1002\/ajmg.1320250111"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_005","doi-asserted-by":"crossref","unstructured":"Slavotinek, AM, Tifft, CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 2002;39:62333. https:\/\/doi.org\/10.1136\/jmg.39.9.623.","DOI":"10.1136\/jmg.39.9.623"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_006","doi-asserted-by":"crossref","unstructured":"Rathod, S, Dash, B, Mahapatra, PC, Nayak, AK. Vaginal atresia in a case of fraser syndrome. J Obstet Gynaecol India 2014;64:95\u20139. https:\/\/doi.org\/10.1007\/s13224-012-0331-9.","DOI":"10.1007\/s13224-012-0331-9"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_007","unstructured":"Kalay, S, Erdal Karakaya, A, Parlak, M, Kalay, Z, Karaveli, C, Tuten, F, et al.. Fraser syndrome is presented with an intraabdominal mass because of hydrometrocolpos in a newborn. Ann Med Res 2021;20:368\u201370."},{"key":"2023040401473868666_j_crpm-2022-0038_ref_008","doi-asserted-by":"crossref","unstructured":"Cerrah Celayir, A, Kurt, G, Sahin, C, Cici, I. Spectrum of etiologies causing hydrometrocolpos. J Neonatal Surg 2013;2:5. https:\/\/doi.org\/10.47338\/jns.v2.17.","DOI":"10.47338\/jns.v2.17"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_009","doi-asserted-by":"crossref","unstructured":"Traisrisilp, K, Nunthapiwat, S, Luewan, S, Tongsong, T. Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome. J Clin Ultrasound 2021;49:62\u20135. https:\/\/doi.org\/10.1002\/jcu.22882.","DOI":"10.1002\/jcu.22882"},{"key":"2023040401473868666_j_crpm-2022-0038_ref_010","doi-asserted-by":"crossref","unstructured":"Rodriguez, RG, Gonz\u00e1lez, JP, Delgado, RG, Guedes, AR, Alvarado, MdL, Castellano, MM, et al.. Fetal hydrometrocolpos and congenital imperforate hymen: prenatal and postnatal imaging features. J Clin Ultrasound 2018;46:549\u201352. https:\/\/doi.org\/10.1002\/jcu.22588.","DOI":"10.1002\/jcu.22588"}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/crpm-2022-0038\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/crpm-2022-0038\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T01:47:52Z","timestamp":1680572872000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/crpm-2022-0038\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,3,10]]},"published-print":{"date-parts":[[2023,1,27]]}},"alternative-id":["10.1515\/crpm-2022-0038"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2022-0038","relation":{},"ISSN":["2192-8959"],"issn-type":[{"type":"electronic","value":"2192-8959"}],"subject":[],"published":{"date-parts":[[2023,1,1]]},"article-number":"20220038"}}