{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:13:42Z","timestamp":1756462422632},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4236,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study.<\/jats:p><jats:p>Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal, aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470609","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:41:37Z","timestamp":1118508097000},"page":"843-847","source":"Crossref","is-referenced-by-count":14,"title":["Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna"],"prefix":"10.1002","volume":"47","author":[{"given":"P.","family":"Beighton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Sujansky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Patzak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. A.","family":"Portele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"BreusC KoliskoA(1904a): \u201cPathologische Beckenformen \u201d Vol I. Franz Deutiche p386."},{"key":"e_1_2_1_3_1","first-page":"369","volume-title":"Pathologische Beckenformen","author":"Breus C","year":"1904"},{"key":"e_1_2_1_4_1","unstructured":"Haslhofer(1927):Zeitung f\u00fcr Neurologie und PsychiatrieNo 3 p2569."},{"key":"e_1_2_1_5_1","unstructured":"PaultaufR(1912):Demonstration eines Skelettes vom ein Falle von Dysostosis cleidocranialis. Verhandlungen der Deutschen Pathologischen Gesellschaft pp337\u2013353."},{"key":"e_1_2_1_6_1","unstructured":"PorteleKA(1982):Mitteilungen des Pathologisch\u2010anatomischen Bundesmuseum No I. Die Sammlung mazerierter Skelette und Knochen des Pathologisch\u2010anat. Bundesmuseums in Wien Teil I."},{"key":"e_1_2_1_7_1","unstructured":"PorteleKA(1990):Mitteilungen des Pathologisch\u2010anatomischen Bundesmuseum No I. Die Sammlung mazerierter Skelette und Knochen des Pathologisch\u2010anat. Bundesmuseums in Wien Teil II."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470609","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470609","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T07:18:46Z","timestamp":1698218326000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,11]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,11]]}},"alternative-id":["10.1002\/ajmg.1320470609"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470609","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,11]]}}}