{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:23:00Z","timestamp":1764688980978},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T00:00:00Z","timestamp":1410134400000},"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; Gyne"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report the prenatal findings in two cases of Beals syndrome. Both pregnancies presented with clinical features of arthrogryposis multiplex congenita\/fetal akinesia syndrome (<jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">FAS<\/jats:styled-content>), including clenched fists and multiple joint contractures on repeat prenatal ultrasound examinations. The first case was diagnosed as having Beals syndrome on physical examination shortly after birth and the diagnosis was confirmed by <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> analysis, shown as a point mutation in the fibrillin 2 (<jats:italic><jats:styled-content style=\"fixed-case\">FBN2<\/jats:styled-content><\/jats:italic>) gene. The second case was diagnosed with Beals syndrome following microarray analysis on amniocytes, which showed a deletion of the <jats:italic><jats:styled-content style=\"fixed-case\">FBN2<\/jats:styled-content><\/jats:italic> gene. Although most cases with <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">FAS<\/jats:styled-content> carry a poor prognosis, Beals syndrome is consistent with normal cognitive development and a better prognosis. Thus, making the correct diagnosis is crucial, both pre\u2010 and postnatally, for accurate counseling and management. Copyright \u00a9 2014 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p>","DOI":"10.1002\/uog.13350","type":"journal-article","created":{"date-parts":[[2014,3,3]],"date-time":"2014-03-03T09:28:58Z","timestamp":1393838938000},"page":"486-490","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis"],"prefix":"10.1002","volume":"44","author":[{"given":"M.","family":"Inbar\u2010Feigenberg","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Meirowitz","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Medicine, Hofstra North Shore\u2010LIJ School Of Medicine Long Island Jewish Medical Center  New Hyde Park NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Nanda","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Medicine, Hofstra North Shore\u2010LIJ School Of Medicine Long Island Jewish Medical Center  New Hyde Park NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Toi","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Okun","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3856"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.49.4.574"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02042.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.8.640"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20854"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/515472"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<188::AID-AJMG3>3.0.CO;2-M"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2008.0132"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<350::AID-AJMG9>3.0.CO;2-P"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000501)92:1<7::AID-AJMG2>3.0.CO;2-8"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2002.00819.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2010.482615"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2012.01.004"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10698"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2006.097469"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0703"},{"key":"e_1_2_4_18_1","article-title":"Congenital contractural arachnodactyly","author":"Godfrey M.","journal-title":"Gene Reviews"}],"container-title":["Ultrasound in Obstetrics &amp; 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