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Recently, we rediagnosed a subset of the collection comprising dried human trunk skeletons and cranial base preparations presenting with homeotic transformations (vertebral phenotypic shifts) and numerical vertebral anomalies. We identified 11 trunk skeletons with either anterior or posterior homeotic transformations (AHT or PHT), 5 trunk skeletons with either less or more than the normal number of vertebrae, and well over a hundred cranial base preparations with either AHT (atlas\u2010assimilation) or PHT (occipital vertebra). We found that, although homeotic transformations and numerical anomalies are distinct conditions, both can be described in terms of mismatch between homeotic patterning and morphological segmentation of the paraxial mesoderm. Therefore these two processes are perhaps not as tightly linked as they may seem on the basis of recent molecular studies. In homeotic transformations there is a <jats:italic>constant<\/jats:italic> mismatch between homeotic patterning and morphological segmentation throughout the affected region of the vertebral column. In numerical anomalies there is a <jats:italic>variable<\/jats:italic> mismatch between homeotic patterning and morphological segmentation, either because of stretching or squeezing of the homeotic pattern or because of oligo\u2010 or polysegmentation of the presomitic mesoderm (PSM). Homeotic transformations of the axial skeleton have an incidence of about 1%\u20135%, apart from their occurrence in malformation syndromes. Of the various etiological possibilities, explaining their frequent but mostly sporadic occurrence, maternal hyperthermia seems an attractive candidate. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30639","type":"journal-article","created":{"date-parts":[[2005,2,24]],"date-time":"2005-02-24T20:23:54Z","timestamp":1109276634000},"page":"268-281","source":"Crossref","is-referenced-by-count":23,"title":["Malformations of the axial skeleton in <i>Museum Vrolik<\/i> I: Homeotic transformations and numerical anomalies"],"prefix":"10.1002","volume":"134A","author":[{"given":"Roelof\u2010Jan","family":"Oostra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurens","family":"de Rooij","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoon F.M.","family":"Moorman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,2,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.855001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.5.1513"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/374724a0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0455"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-8049(97)00010-5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(00)00481-0"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(95)98114-P"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<91::AID-AJMG2>3.0.CO;2-U"},{"key":"e_1_2_7_10_1","first-page":"219","volume-title":"Orders and families of recent mammals of the world","author":"Barlow JC","year":"1984"},{"key":"e_1_2_7_11_1","volume-title":"Disorders of the cervical spine","author":"Bland JH","year":"1987"},{"key":"e_1_2_7_12_1","first-page":"625","article-title":"De variaties in het grensgebied tusschen hoofd en halswervelkolom bij den mensch en hun beteekenis I","volume":"43","author":"Bolk L","year":"1899","journal-title":"Ned Tijdschr Geneesk"},{"key":"e_1_2_7_13_1","first-page":"751","article-title":"De variaties in het grensgebied tusschen hoofd en halswervelkolom bij den mensch en hun beteekenis II","volume":"43","author":"Bolk L","year":"1899","journal-title":"Ned Tijdschr Geneesk"},{"key":"e_1_2_7_14_1","first-page":"46","article-title":"De variaties in het grensgebied tusschen hoofd en halswervelkolom bij den mensch en hun beteekenis III","volume":"44","author":"Bolk L","year":"1900","journal-title":"Ned Tijdschr Geneesk"},{"key":"e_1_2_7_15_1","first-page":"79","article-title":"K\u00fcrzere Mittheilungen aus dem anatomischen Institut zu Amsterdam","volume":"29","author":"Bolk L","year":"1900","journal-title":"Morphol Jahrb"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330250205"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002040103"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/386084a0"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.21.10056"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.116.2.357"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01030"},{"key":"e_1_2_7_22_1","volume-title":"Mus\u00e9e Vrolik. 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