{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:54:44Z","timestamp":1791219284591,"version":"4.1.0"},"reference-count":34,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine the relationship between trisomies 13,18, and 21 and craniofacial malformations detected by prenatal sonography.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyotype identification. Sonographic findings were compared with autopsy results in 209 patients (trisomy 13, n = 39; trisomy 18, n = 64; and trisomy 21, n = 106).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>For trisomy 13, cleft deformities were detected prenatally in 65.2%, and of the 39 cases with pathological information, 76.9% were found to have a cleft deformity. Ocular and orbital abnormalities were found in 28%. Malformations of the jaws and abnormal profiles were more frequently diagnosed postnatally than prenatally. For trisomy 18, abnormal profiles (41.5%) and ear abnormalities (5.3%) were the most noticeable ultrasound markers, next to abnormalities of the neurocranium (36.8%) and cranial bone configuration (21.6%). Dysmorphisms of the eye, ear, or nose were detected more frequently in autopsy cases. For trisomy 21, ultrasound showed an aberrant shape of the skull in 14.2% of fetuses. In general, the ocular-orbital and nasal abnormalities in fetuses with trisomy 18 or 21 were more evident in pathological examination than in prenatal ultrasound imaging.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Facial anomalies are common in the major trisomies, and their prenatal sonographic identification should be improved. The above-mentioned facial anomalies provide sufficient reason to consider performing cytogenic evaluation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/08-285_1","type":"journal-article","created":{"date-parts":[[2018,10,30]],"date-time":"2018-10-30T12:22:41Z","timestamp":1540902161000},"page":"189-196","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal Diagnosis of Craniomaxillofacial Malformations: A Characterization of Phenotypes in Trisomies 13, 18, and 21 by Ultrasound and Pathology"],"prefix":"10.1177","volume":"47","author":[{"given":"A.M.","family":"Ettema","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Wenghoefer","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic Surgery, University of Bonn, Bonn, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hansmann","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Prenatal Diagnosis and Therapy, University of Bonn, Bonn, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.E.L.","family":"Carels","sequence":"additional","affiliation":[{"name":"Department of Orthodontics and Oral Biology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands, and Department of Orthodontics, Catholic University of Leuven, Leuven, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.A.","family":"Borstlap","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.J.","family":"Berg\u00e9","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,3,1]]},"reference":[{"key":"bibr1-08-285_1","doi-asserted-by":"publisher","DOI":"10.1016\/0020-7292(94)90172-4"},{"key":"bibr2-08-285_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.159.1.3513249"},{"key":"bibr3-08-285_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00575.x"},{"key":"bibr4-08-285_1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1542\/peds.81.4.555","volume":"81","author":"Birnholz J.C.","year":"1988","journal-title":"Pediatrics."},{"key":"bibr5-08-285_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1994.13.7.529"},{"key":"bibr6-08-285_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.31"},{"key":"bibr7-08-285_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00558.x"},{"key":"bibr8-08-285_1","doi-asserted-by":"publisher","DOI":"10.1159\/000310418"},{"key":"bibr9-08-285_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199701)17:1<51::AID-PD42>3.0.CO;2-G"},{"key":"bibr10-08-285_1","volume-title":"Ultraschalldiagnostik in Geburtshilfe und Gyn\u00e4kologie. 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