{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:57:01Z","timestamp":1789955821303,"version":"4.0.1"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T00:00:00Z","timestamp":1232582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>On profile radiographs of adults, an association between fusions of cervical vertebrae, deviations in the cranial base and mandibular retrognathia has been documented radiographically. An elaboration of this association on a histological level is needed. In human triploid fetuses severe mandibular retrognathia and deviations in the cranial base have previously been described radiographically (without cephalometry) and cervical column fusions radiographically as well as histologically. Therefore, triploid fetuses were chosen to elucidate the cranial base cephalomterically and histologically. In the present study, eight triploid fetuses were analyzed radiographically and histologically focusing especially on the cranial base, which borders to the spine and to which the jaws are attached. A histological analysis of the cranial base has not previously been performed in triploid cases. An enlarged cranial base angle and a retrognathic position of the mandible were documented cephalometrically on radiographs of all cases. Histologically, malformations were observed in the cranial base as well as in the spine. These are new findings indicating the association between the occipital bone and the uppermost vertebra in the body axis. As the notochord connects the cervical column and the cranial base in early prenatal life, molecular signaling from the notochord may in future studies support the notochord as the developmental link between abnormal development in the spine and the cranial base. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32631","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T19:20:22Z","timestamp":1232652022000},"page":"177-187","source":"Crossref","is-referenced-by-count":8,"title":["Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses"],"prefix":"10.1002","volume":"149A","author":[{"given":"Liselotte","family":"Sonnesen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorrit","family":"Nolting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulla","family":"Engel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inger","family":"Kj\u00e6r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/22.2.185"},{"key":"e_1_2_6_3_1","first-page":"261","article-title":"Morphological features and measurements in a human fetus with karyotype 69, XXX: Comparison with fetuses of the same CRL, without chromosomal anomalies","volume":"106","author":"Bareggi R","year":"2001","journal-title":"Ital J Anat Embryol"},{"key":"e_1_2_6_4_1","first-page":"124","article-title":"The face in profile","volume":"40","author":"Bj\u00f6rk A","year":"1947","journal-title":"Svensk Tandl Tidskr"},{"key":"e_1_2_6_5_1","first-page":"69","volume-title":"Nordisk L\u00e4robok i Ortodonti","author":"Bj\u00f6rk A","year":"1975"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.2.164"},{"key":"e_1_2_6_7_1","volume-title":"The development of the vertebrate skull","author":"de Beer G","year":"1971"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.orthres.2005.03.008"},{"key":"e_1_2_6_9_1","first-page":"1","article-title":"Development and other pathologic changes in syndromes caused by chromosome abnormalities","volume":"7","author":"Gilbert EF","year":"1982","journal-title":"Perspect Pediatr Pathol"},{"key":"e_1_2_6_10_1","volume-title":"Human embryology. Prenatal development of form and function","author":"Hamilton WJ","year":"1972"},{"key":"e_1_2_6_11_1","volume-title":"The skull. Vol 2. Patterns of structural and systematic diversity","author":"Hanken J","year":"1993"},{"key":"e_1_2_6_12_1","first-page":"327","article-title":"Craniofacial morphology in Turner syndrome","volume":"5","author":"Jensen BL","year":"1985","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<466::AID-AJMG19>3.0.CO;2-Q"},{"key":"e_1_2_6_14_1","first-page":"29","article-title":"Ossification of the human fetal basis cranium","volume":"10","author":"Kj\u00e6r I","year":"1990","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016359509005963"},{"key":"e_1_2_6_16_1","first-page":"80","article-title":"Mandibular movements during elevation and fusion of palatal shelves evaluated from the course of Meckel's cartilage","volume":"17","author":"Kj\u00e6r I","year":"1997","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/10454411980090020501"},{"key":"e_1_2_6_18_1","first-page":"157","article-title":"The adenohypophysis and the cranial base in early human development","volume":"15","author":"Kj\u00e6r I","year":"1995","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_19_1","first-page":"83","article-title":"Ossification sequence of occipital bone and vertebrae in human fetuses","volume":"13","author":"Kj\u00e6r I","year":"1993","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1994)031<0250:MMSIHA>2.3.CO;2"},{"key":"e_1_2_6_21_1","first-page":"235","article-title":"Cranial base and vertebral column in human anencephalic fetuses","volume":"14","author":"Kj\u00e6r I","year":"1994","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<332::AID-AJMG16>3.0.CO;2-V"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<421::AID-AJMG17>3.0.CO;2-J"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<216::AID-AJMG17>3.0.CO;2-Q"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/20.4.443"},{"key":"e_1_2_6_26_1","volume-title":"The prenatal human cranium\u2014Normal and pathologic development","author":"Kj\u00e6r I","year":"1999"},{"key":"e_1_2_6_27_1","first-page":"184","article-title":"Development of the basilar part of the occipital bone in human fetuses","volume":"13","author":"Kyrkanides S","year":"1993","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01457415"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1159\/000146019"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.901930311"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04432.x"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-199811010-00003"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0463.2000.d01-78.x"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0463.2002.110210.x"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30049"},{"key":"e_1_2_6_36_1","first-page":"309","article-title":"Complete triploidy (69,XXX) surviving until the age of 7 months","volume":"94","author":"Schrocksnadel H","year":"1982","journal-title":"Wien Klin Wochenschr"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0196-0644(05)81038-8"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00331"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjm043"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2007.01.019"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2007.07.018"},{"key":"e_1_2_6_42_1","first-page":"1","article-title":"Cervical column morphology related to head posture, cranial base angle, and condylar malformation","volume":"2","author":"Sonnesen L","year":"2007","journal-title":"Eur J Orthod"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0b013e31817b61d1"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01812"},{"key":"e_1_2_6_45_1","first-page":"22","article-title":"Cranial base angulation and prognathism related to cranial and general skeletal maturation in human fetuses","volume":"12","author":"van den Eynde B","year":"1992","journal-title":"J Craniofac Genet Dev Biol"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32631","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32631","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T15:23:25Z","timestamp":1699975405000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32631"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,22]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["10.1002\/ajmg.a.32631"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32631","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,22]]}}}