{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:04:21Z","timestamp":1792152261940,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7246,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on nine individuals with the Pena\u2010Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320210407","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:25Z","timestamp":1118519965000},"page":"655-668","source":"Crossref","is-referenced-by-count":42,"title":["The Pena\u2010Shokeir syndrome: Report of nine Dutch cases"],"prefix":"10.1002","volume":"21","author":[{"given":"D.","family":"Lindhout","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Hageman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. A.","family":"Beemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. F.","family":"Ippel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Breslau\u2010Siderius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Willemse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160211"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170411"},{"key":"e_1_2_1_4_1","volume-title":"Embryology and Pathogenesis and Prenatal Diagnosis","author":"Dimmick JE","year":"1977"},{"issue":"3","key":"e_1_2_1_4_2","first-page":"133","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","volume-title":"Recent Advances and New Syndromes","author":"Elias S","year":"1978"},{"issue":"6","key":"e_1_2_1_5_2","first-page":"243","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1059546"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170410"},{"key":"e_1_2_1_8_1","first-page":"215","article-title":"Separating Pena\u2010Shokeir I syndrome from the \u201carthrogryposis basket.\u201d","volume":"32","author":"Houston CS","year":"1981","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030305"},{"key":"e_1_2_1_10_1","first-page":"53","article-title":"Syndrome of ankylosis, facial anomalies and pulmonary hypoplasia","volume":"11","author":"Khan AA","year":"1977","journal-title":"Med J Zambia"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282011"},{"key":"e_1_2_1_12_1","first-page":"73","article-title":"Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: One syndrome or some related forms?","volume":"33","author":"Lazjuk GI","year":"1978","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_13_1","first-page":"1419","article-title":"\u201cPena Shokeir\u201d syndrome in a newborn male infant","volume":"131","author":"Mailhes JB","year":"1977","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_14_1","volume-title":"Cytogenetics, Environment and Malformation Syndromes","author":"Mease AD","year":"1976"},{"issue":"5","key":"e_1_2_1_14_2","first-page":"193","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80352-7"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.72.6.857"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80119-8"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01695.x"},{"key":"e_1_2_1_19_1","volume-title":"Cytogenetics, Environment and Malformation Syndromes","author":"Pena SDJ","year":"1976"},{"issue":"5","key":"e_1_2_1_19_2","first-page":"201","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1979.tb06208.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80120-4"},{"key":"e_1_2_1_22_1","first-page":"1196","article-title":"Ankylosis, facial anomalies, and pulmonary hypoplasia syndrome","volume":"133","author":"Say B","year":"1979","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80633-7"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688750"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:51:31Z","timestamp":1695808291000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1002\/ajmg.1320210407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210407","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}