{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T16:53:22Z","timestamp":1758992002228},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,8,5]],"date-time":"2005-08-05T00:00:00Z","timestamp":1123200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two siblings with Walker\u2013Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the second\u2010trimester scan showed ventricular dilatation and we diagnosed WWS after observing retinal detachment at 26 weeks' gestation and lissencephaly by 32 weeks' gestation in addition to hypoplasia of the cerebellar vermis. The second case was first suspected at 12 weeks' gestation, when we observed a 2.8\u2010mm nuchal translucency and an unusually large hindbrain vesicle. By 14 weeks' gestation, the lateral ventricles were clearly enlarged (12\u201313 mm), at 16 weeks' gestation the vitreous chamber appeared to be hyperechogenic, and by 17 weeks' gestation hydrocephalus was evident. The couple chose to continue the pregnancy, and during the third trimester lissencephaly, major hydrocephalus and polyhydramnios developed.<\/jats:p><jats:p>Serial ultrasound examination should be offered to a family with a history of WWS and therefore a 1 in 4 risk of recurrence. In some cases, recurrence can be suspected as early as the first trimester, however the diagnosis cannot be excluded on the basis of normal ultrasound appearance until later in pregnancy. Copyright \u00a9 2005 ISUOG. Published by John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/uog.1965","type":"journal-article","created":{"date-parts":[[2005,8,5]],"date-time":"2005-08-05T10:52:56Z","timestamp":1123239176000},"page":"297-299","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["First\u2010trimester ultrasound diagnosis in a recurrent case of Walker\u2013Warburg syndrome"],"prefix":"10.1002","volume":"26","author":[{"given":"G.","family":"Blin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Rabb\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Ansquer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Meghdiche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Floch\u2010Tudal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Mandelbrot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,5]]},"reference":[{"key":"e_1_2_3_2_2","unstructured":"Online Mendelian Inheritance in Man (OMIM):http:\/\/www3.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?id=236 670(last accessed September 28 2004)."},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970060304"},{"key":"e_1_2_3_4_2","first-page":"134","volume-title":"Ultrasound of Fetal Syndromes","author":"Benacerraf BR","year":"1998"},{"key":"e_1_2_3_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1997.09040222.x"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560403"},{"key":"e_1_2_3_7_2","first-page":"34","article-title":"D\u00e9collement de r\u00e9tine pr\u00e9natal: un signe de pathologie g\u00e9n\u00e9tique","volume":"56","author":"Mahieu\u2010Caputo D","year":"2003","journal-title":"M\u00e9decine Foetale et Echographie en Gyn\u00e9cologie"},{"key":"e_1_2_3_8_2","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2001.20.4.419"},{"key":"e_1_2_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200011)20:11<894::AID-PD949>3.0.CO;2-J"},{"key":"e_1_2_3_10_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.166.3.3277246"},{"key":"e_1_2_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<107::AID-AJMG1>3.0.CO;2-Q"},{"key":"e_1_2_3_12_2","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1992.11.6.301"}],"container-title":["Ultrasound in Obstetrics &amp; Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.1965","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.1965","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.1965","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T23:29:36Z","timestamp":1700177376000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/uog.1965"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,5]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1002\/uog.1965"],"URL":"https:\/\/doi.org\/10.1002\/uog.1965","archive":["Portico"],"relation":{},"ISSN":["0960-7692","1469-0705"],"issn-type":[{"value":"0960-7692","type":"print"},{"value":"1469-0705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,5]]},"assertion":[{"value":"2005-01-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2005-08-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}