{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:46:22Z","timestamp":1700156782653},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,8,11]],"date-time":"2005-08-11T00:00:00Z","timestamp":1123718400000},"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":[[2005,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724\u20131774), his son Philipp Friedrich Theodor Meckel (1755\u20131803), and his grandson Johann Friedrich Meckel the Younger (1781\u20131833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH\u2010ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30889","type":"journal-article","created":{"date-parts":[[2005,8,11]],"date-time":"2005-08-11T21:16:31Z","timestamp":1123794991000},"page":"263-268","source":"Crossref","is-referenced-by-count":3,"title":["Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany"],"prefix":"10.1002","volume":"137A","author":[{"given":"Luminita","family":"G\u00f6bbel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00fcdiger","family":"Schultka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudyard","family":"Klunker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karsten","family":"Stock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothee","family":"Wand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lennart","family":"Olsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antje","family":"Gerlach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"T\u00f6nnies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,11]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"731","article-title":"Fanconi anemia diagnosis and the diepoxybutane (DEB) test","volume":"21","author":"Auerbach AD","year":"1993","journal-title":"Exp Hematol"},{"key":"e_1_2_6_3_1","first-page":"317","volume-title":"The genetic basis of human cancer","author":"Auerbach AD","year":"1999"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410121"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04436.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100502"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<1::AID-AJMG1>3.0.CO;2-1"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1053\/crad.2000.0445"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900796"},{"key":"e_1_2_6_10_1","first-page":"147","article-title":"Nager acrofacial dysosotosis. An adult male with severe neurological deficit","volume":"7","author":"Fryns JP","year":"1996","journal-title":"Genet Couns"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1182\/blood.V69.6.1637.1637","article-title":"A test for Fanconi's anemia","volume":"69","author":"German J","year":"1987","journal-title":"Blood"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-200212000-00014"},{"key":"e_1_2_6_13_1","first-page":"14","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones KL","year":"1997"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30113"},{"key":"e_1_2_6_15_1","unstructured":"KlunkerR.2003. Bestand und Identit\u00e4t der human\u2010teratologischen Pr\u00e4parate in den Meckel'schen Sammlungen unter besonderer Ber\u00fccksichtigung des wissenschaftlichen Werkes von Johann Friedrich Meckel dem J\u00fcngeren (1781\u20101833). Unpublished M.D. thesis Martin\u2010Luther\u2010Universit\u00e4t Halle\u2010Wittenberg Germany."},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0940-9602(02)80093-0"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004020000167"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1999.13050366.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(91)90197-6"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000073131"},{"key":"e_1_2_6_21_1","first-page":"750","volume-title":"Handbuch der Pathologischen Anatomie","author":"Meckel JF","year":"1812"},{"key":"e_1_2_6_22_1","first-page":"1","article-title":"Das Geh\u00f6rorgan bei den angeborenen Kopf\u2010Missbildungen","volume":"10","author":"Nager FR","year":"1948","journal-title":"Pract Oto Rhinolaryngol"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<195::AID-AJMG21>3.0.CO;2-H"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470517"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100060050045"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.52"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150208"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020309"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10258"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0029-7844(94)00284-K"},{"key":"e_1_2_6_31_1","first-page":"94","article-title":"Tetrasomy 18p in a child with trisomy 18 phenotype","volume":"50","author":"Singer TS","year":"1990","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10809"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01991532"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05023.x"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.1"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0940-9602(02)80094-2"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4B6427.2005"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<301::AID-AJMG5>3.0.CO;2-J"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-97628-5"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460407"}],"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.30889","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30889","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:18:43Z","timestamp":1700155123000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,11]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1002\/ajmg.a.30889"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30889","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,11]]}}}