{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T20:56:03Z","timestamp":1791665763601,"version":"4.3.4"},"reference-count":48,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Introduction: Fraser syndrome (FS) is a rare autosomal recessive disorder. However, the clinical presentation remains variable. Diagnosis is based on a series of major and minor clinical criteria that can be supported by genetic tests. Prenatal diagnosis remains challenging. Methods: Herein, we reported a case of Fraser syndrome that was missed by ultrasound and diagnosed late at birth. The newborn presented with cryptophthalmos\u2013syndactyly syndrome and absence of the right kidney. Based on a literature review of articles from the past 20 years, the authors found 40 cases, including indexed cases on PUBMED, Scopus, Web of Science, and Scholar using keywords related to \u201cFraser syndrome\u201d. Through this report, we discuss the polymalformative syndrome, the clinical and paraclinical aspects of this syndrome, its clinical management, and highlight the importance of prenatal diagnosis in the light of research. Results: Our study found that consanguine parents (41.0%) were increasing risk factors for FS and poor socio-economic status delayed the early detection of FS. Among the 40 cases, 27 cases were detected postnatally. More than half of the cases resulted in poor perinatal outcomes. The common findings were cryptophthalmos (87.5%), syndactyly (87.5%), renal abnormalities (55.5%), and genital abnormalities (42.5%). Conclusions: A prenatal diagnosis of Fraser syndrome is still difficult. Thus, a counseled ultrasound scan at a specialized center should be recommended in suspected cases with indirect signs and risk factors of consanguinity.<\/jats:p>","DOI":"10.3390\/diagnostics15131606","type":"journal-article","created":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T03:53:02Z","timestamp":1750823582000},"page":"1606","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2037-8591","authenticated-orcid":false,"given":"Xuan Trang","family":"Thi Pham","sequence":"first","affiliation":[{"name":"Department of Pathology Pregnancy, Tu Du Hospital, 284 Cong Quynh Street, Pham Ngu Lao Ward, District 1, Ho Chi Minh City 700000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6473-7755","authenticated-orcid":false,"given":"Phuc Nhon","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pathology Pregnancy, Tu Du Hospital, 284 Cong Quynh Street, Pham Ngu Lao Ward, District 1, Ho Chi Minh City 700000, Vietnam"},{"name":"Clinical Research Center, Tu Du Hospital, Ho Chi Minh City 71012, Vietnam"},{"name":"Service de Gyn\u00e9cologie-Obst\u00e9trique, Maternit\u00e9, Chirurgie Gyn\u00e9cologique, Centre Hospitalier Universitaire d\u2019Orl\u00e9ans, 45100 Orl\u00e9ans, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan Song","family":"Hoang","sequence":"additional","affiliation":[{"name":"Department of General Surgery, People\u2019s Hospital 115, Ho Chi Minh City 700000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/jmg.39.9.623","article-title":"Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes","volume":"39","author":"Slavotinek","year":"2002","journal-title":"J. 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Update"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/13\/1606\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:58:08Z","timestamp":1760032688000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/13\/1606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,25]]},"references-count":48,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["diagnostics15131606"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15131606","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,25]]}}}