{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T11:40:27Z","timestamp":1700653227153},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,3,28]],"date-time":"2008-03-28T00:00:00Z","timestamp":1206662400000},"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":[[2008,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the sonographic and autopsy findings in two sibling fetuses with autosomal recessive orofaciodigital syndrome (OFDS) Type IV (Mohr\u2013Majewski) diagnosed at 11\u201313 weeks' gestation. The first\u2010trimester anomaly scan showed a markedly increased nuchal translucency (NT) thickness in both fetuses (4.7 mm and 5.1 mm). Both fetuses had multiple anomalies involving the brain, cranium, heart and skeletal system and their karyotypes were normal. The pregnancies were terminated and the autopsies showed findings consistent with Mohr\u2013Majewski syndrome. These cases show the overlap between OFDS Type II (Mohr) and lethal short\u2010rib\u2013polydactyly syndrome Type II (Majewski) and confirm both the autosomal recessive inheritance of the condition and our ability to diagnose it early in pregnancy using detailed fetal ultrasonography. Copyright \u00a9 2008 ISUOG. Published by John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/uog.5285","type":"journal-article","created":{"date-parts":[[2008,3,28]],"date-time":"2008-03-28T20:51:09Z","timestamp":1206737469000},"page":"457-460","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Orofaciodigital syndrome Type IV (Mohr\u2013Majewski): early prenatal diagnosis in siblings"],"prefix":"10.1002","volume":"31","author":[{"given":"B.","family":"R\u00f6sing","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kempe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Berg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Kahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Kn\u00f6pfle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Gembruch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Geipel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,3,28]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.1.65"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.189"},{"key":"e_1_2_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02817.x"},{"key":"e_1_2_3_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.200"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199407000-00010"},{"key":"e_1_2_3_7_2","first-page":"39","article-title":"Oral\u2010facial\u2010digital syndrome type IV (Mohr\u2013Majewski syndrome): a fetopathological study","volume":"9","author":"Moerman P","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_3_8_2","first-page":"189","article-title":"Mohr\u2013Majewski syndrome (orofaciodigital syndrome type IV) in five sibs","volume":"10","author":"T\u00fcys\u00fcz B","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_3_9_2","first-page":"384","article-title":"Mohr syndrome and skeletal dysplasia? 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