{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:28Z","timestamp":1792153048884,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":6976,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the prenatal diagnosis of Beckwith\u2010Wiedemann syndrome (BWS) in a pregnancy monitored because of a previously affected child. The proposita had classical stigmata of BWS including macroglossia, omphalocele, and typical ear creases. Chromosomes were 46,XX. Both parents and the extended maternal family were clinically normal. In a subsequent pregnancy by another father, the mother had serial ultrasound monitoring at 13.5, 18, and 19 weeks gestation which showed an enlarged abdominal circumference and a 2\u2010cm omphalocele. At termination the female fetus weighed more than two times the expected weight, had striking hypertrophy of skeletal muscles, a protuberant abdomen, and a 2\u2010cm omphalocele and characteristic facial appearance. Autopsy confirmed generalized organomegaly. This is the first report of the prenatal diagnosis of BWS prior to 20 weeks in an at\u2010risk family. The recurrence in this family emphasizes the difficulty in providing accurate genetic recurrence risks in BWS and suggests that ultrasonographic prenatal diagnosis should be offered to families even when the case appears to be \u201csporadic\u201d.<\/jats:p>","DOI":"10.1002\/ajmg.1320240117","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:51Z","timestamp":1118520231000},"page":"137-141","source":"Crossref","is-referenced-by-count":38,"title":["Prenatal diagnosis of the Beckwith\u2010Wiedemann syndrome"],"prefix":"10.1002","volume":"24","author":[{"given":"Susan C.","family":"Winter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia J. R.","family":"Curry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Charles","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Kassel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Andrea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"BeckwithJB(1963):Extreme cytomegaly of the adrenal fetal cortex omphalocele hyperplasia of kidneys and pancreas and Leydig\u2010cell hyperplasia. Another syndrome?Presented at Annual Meeting of Western Society for Pediatric Research Los Angeles California November 11 1963 (abstract Clinical Research)."},{"key":"e_1_2_1_3_1","volume-title":"Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic viceromegaly","author":"Beckwith JB","year":"1969"},{"issue":"5","key":"e_1_2_1_3_2","first-page":"188","author":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.2.136"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090405"},{"issue":"1","key":"e_1_2_1_6_1","doi-asserted-by":"crossref","DOI":"10.1111\/j.1440-1673.1983.tb02338.x","article-title":"The pre and postnatal appearance of the kidneys in Beckwith\u2010Wiedemann syndrome","author":"Carseldine DB","year":"1983","journal-title":"Australian Radiology"},{"key":"e_1_2_1_7_1","first-page":"271","article-title":"Familial macroglossia\u2010omphalocele syndrome","volume":"24","author":"Chenke J","year":"1976","journal-title":"J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1097\/00005792-197007000-00002","article-title":"The Beckwith\u2010Wiedemann syndrome","volume":"49","author":"Filippe G","year":"1970","journal-title":"Medicine (Balt.)"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)92044-8"},{"key":"e_1_2_1_10_1","first-page":"293","article-title":"Cardiovascular abnormalities in the Beckwith\u2010Wiedemann syndrome","volume":"131","author":"Greenwood RD","year":"1977","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","unstructured":"KnightJA PalmerWM GardnerAY BrydenWL(1980):Association of the Beckwith\u2010Wiedemann and prune belly syndromes. 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