{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:12:40Z","timestamp":1745554360963,"version":"3.40.4"},"reference-count":4,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gyn\u00e4kol Geburtshilfliche Rundsch"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>Das SC-Phokomelie- oder Pseudothalidomid-Syndrom (Roberts-Syndrom) ist eine seltene autosomalrezessiv vererbte Krankheit, die sich klinisch mit einer Phokomelie, einer pr\u00e4- und postnatalen Wachstumsretardierung mit kraniofazialen Dysmorphien und Missbildungen (z.B. Lippen-Kiefer-Gaumenspalte, Mikro[brachy]zephalie) manifestiert, zytogenetisch eventuell mit dem Ph\u00e4nomen des Zentromersplittings. Beobachtet werden ausserdem Nierenmissbildungen, Herzfehler, eine Klitoris- bzw. Penishyperplasie sowie beidseitige Korneatr\u00fcbungen oder andere Augenanomalien. Geistige Retardierung ist bei \u00fcberlebenden Patienten h\u00e4ufig.<\/jats:p>","DOI":"10.1159\/000049454","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T10:10:37Z","timestamp":1050401437000},"page":"3-7","source":"Crossref","is-referenced-by-count":0,"title":["Roberts-SC-Phokomelie- oder Pseudothalidomid-Syndrom"],"prefix":"10.1159","volume":"41","author":[{"given":"D.A.","family":"Musfeld","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.M.","family":"B\u00fchler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Heinzl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2001,6,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199602)16:2<125::AID-PD822>3.0.CO;2-S"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199608)16:8<770::AID-PD936>3.0.CO;2-9"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<155::AID-AJMG1>3.0.CO;2-M"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<307::AID-AJMG11>3.3.CO;2-9"}],"container-title":["Gyn\u00e4kologisch-geburtshilfliche Rundschau"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/49454","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/49454","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:15:32Z","timestamp":1745468132000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000049454"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":4,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2001,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000049454","archive":["Portico"],"relation":{},"ISSN":["1018-8843","1423-0011"],"issn-type":[{"type":"print","value":"1018-8843"},{"type":"electronic","value":"1423-0011"}],"subject":[],"published":{"date-parts":[[2001]]}}}