{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:49:09Z","timestamp":1788306549483,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T00:00:00Z","timestamp":1516752000000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Congenital diaphragmatic hernia (CDH) is associated with Simpson\u2010Golabi\u2010Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy, and family history in confirming this diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Retrospective review of 3 cases of SGBS type I in a single tertiary care centre. Family history, fetal ultrasound, autopsy findings, and genetic testing for <jats:italic>GPC3<\/jats:italic> was performed for each case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fetal ultrasound findings in the second trimester were CDH, omphalocele, increased nuchal fold, renal anomaly, and cleft lip and palate. Fetal autopsy confirmed the prenatal ultrasound findings and also showed dysmorphic facial features and premalignant lesions on renal and gonadal histology. Microarray and DNA analysis of the <jats:italic>GPC3<\/jats:italic> gene confirmed the diagnosis of SGBS type I in each case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Nonisolated CDH in a male fetus suggests a diagnosis of SGBS type I. Fetal autopsy, pedigree analysis, and genetic testing for <jats:italic>GPC3<\/jats:italic> are all essential to confirming the diagnosis. The histological findings of ovotestes and nephroblastomatosis indicate that cancer predisposition is established early in fetal life.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5198","type":"journal-article","created":{"date-parts":[[2017,12,14]],"date-time":"2017-12-14T13:52:57Z","timestamp":1513259577000},"page":"117-122","source":"Crossref","is-referenced-by-count":8,"title":["Nonisolated diaphragmatic hernia in Simpson\u2010Golabi\u2010Behmel syndrome"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2580-7532","authenticated-orcid":false,"given":"Karen","family":"Chong","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital  Toronto ON Canada"},{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto ON Canada"},{"name":"University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Saleh","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto ON Canada"},{"name":"University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Injeyan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital  Toronto ON Canada"},{"name":"University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioana","family":"Miron","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital  Toronto ON Canada"},{"name":"University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Fong","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Mount Sinai Hospital  Toronto ON Canada"},{"name":"University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Mount Sinai Hospital  Toronto ON Canada"},{"name":"University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420460605"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.908"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.siny.2014.09.003","article-title":"Genetic causes of congenital diaphragmatic hernia","volume":"19","author":"Wynn J","year":"2013","journal-title":"Semin Fetal Neonatal Med"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4648"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31360"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","unstructured":"TenorioJ AriasP Martinez\u2010GlezV et al.Simpson\u2010Golabi\u2010Behmel syndrome types I and II. Orphanet J of Rare Diseases 2914;9:138.","DOI":"10.1186\/s13023-014-0138-0"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37452"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.3.532"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.125004"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-2845"},{"issue":"1","key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/ajmg.1320430165","article-title":"Simpson\u2010Golabi\u2010Behmel syndrome associated with renal dysplasia and embryonal tumor. Localization of the gene to Xqcen\u2010q21","volume":"43","author":"Hughes\u2010Benzies RM","year":"1992","journal-title":"Am J Med Genet"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4920"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.154"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04307.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010801)102:2<161::AID-AJMG1453>3.0.CO;2-O"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125480-200109000-00005"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32391"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30064"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2009.10.002"},{"key":"e_1_2_7_21_1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1186\/1752-1947-6-301","article-title":"46,XX ovotesticular disorder in a Mexican patient with Beckwith\u2013Wiedemann syndrome: a case report","volume":"6","author":"Mac\u00edas\u2010G\u00f3mez NM","year":"2012","journal-title":"J Med Case Reports"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140414"},{"key":"e_1_2_7_23_1","first-page":"211","article-title":"Increased nuchal translucency and other ultrasound findings in a case of Simpson\u2010Golabi\u2010Behmel syndrome","volume":"25","author":"Li CC","year":"1994","journal-title":"Fetal Diagn Ther"},{"key":"e_1_2_7_24_1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ejmg.2011.02.009","article-title":"A 1 Mb\u2010sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson\u2010Golabi\u2010Behmel syndrome: report, antenatal findings and review","volume":"54","author":"Weinchert J","year":"2011","journal-title":"Eur J Med Genet"},{"key":"e_1_2_7_25_1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.ejogrb.2013.09.044","article-title":"Simpson\u2010Golabi\u2010Behmel syndrome diagnosed by post\u2010mortem magnetic resonance imaging,restricted autopsy and molecular genetics: a case report","volume":"171","author":"Ochiai D","year":"2013","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12725"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37873"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.5198","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T21:16:52Z","timestamp":1695676612000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/pd.5198"],"URL":"https:\/\/doi.org\/10.1002\/pd.5198","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1]]}}}