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Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pana\u2010Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena\u2010Shokeir syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320160211","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:59:12Z","timestamp":1118516352000},"page":"213-224","source":"Crossref","is-referenced-by-count":59,"title":["The Pena\u2010Shokeir syndrome: Report of five cases and further delineation of the syndrome"],"prefix":"10.1002","volume":"16","author":[{"given":"H.","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Blumberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Immken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rightmire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Fowler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Bachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. A.","family":"Beemer","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\/jcu.1870090510"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070203"},{"key":"e_1_2_1_4_1","unstructured":"ChenH ImmkenL BlumbergB LachmanR YangS RimoinD RightmireD BachmanR EtesonD.StewartF(1982a):Lethal form of multiple pterygium syndrome: A prenatally diagnosable entity. Program and abstracts of the 1982 Birth Defects Conference. The University of Alabama in Birmingham and the March of Dimes Birth Defects Foundation p94."},{"key":"e_1_2_1_5_1","unstructured":"ChenH ImmkenL LachmanR YangS RimoinD.RightmireD EtesonD StewartF BeemerFA OpitzJM GilbertEF LangerLO ShapiroLR DuncanPA(1982b):Syndrome of multiple pterygium camptodactyly facial anomalies hypoplastic lungs and heart cystic hygroma and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome. Am J Med Genet (in press)."},{"key":"e_1_2_1_6_1","volume-title":"Embryology and Pathogenesis and Prenatal Diagnosis","author":"Dimmick JE","year":"1977"},{"issue":"3","key":"e_1_2_1_6_2","first-page":"133","author":"The National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_7_1","volume-title":"Recent Advances and New Syndromes","author":"Elias S","year":"1978"},{"issue":"6","key":"e_1_2_1_7_2","first-page":"243","author":"The National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120404"},{"key":"e_1_2_1_10_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_11_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_12_1","first-page":"1419","article-title":"\u201cPena\u2010Shokeir syndrome\u201d in a newborn male infant","volume":"131","author":"Mailhes JB","year":"1977","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_13_1","volume-title":"Cytogenetics, Environment and Malformation Syndromes","author":"Mease AD","year":"1976"},{"issue":"5","key":"e_1_2_1_13_2","first-page":"193","author":"The National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"issue":"6","key":"e_1_2_1_14_1","first-page":"205","article-title":"COFS syndrome revisited","author":"Pena SDJ","year":"1978","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80119-8"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01695.x"},{"key":"e_1_2_1_17_1","volume-title":"Cytogenetics, Environement and Malformation Syndromes","author":"Pena SDJ","year":"1976"},{"issue":"5","key":"e_1_2_1_17_2","first-page":"201","author":"The National Foundation \u2010March of Dimes.","journal-title":"BD:OAS"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80120-4"},{"key":"e_1_2_1_19_1","first-page":"437","volume-title":"Handbook of Clinical Neurology","author":"Shokeir MHK","year":"1982"},{"key":"e_1_2_1_20_1","first-page":"341","volume-title":"Handbook of Clinical Neurology","author":"Shokeir MHK","year":"1982"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb01203.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80633-7"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320160211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320160211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T20:01:59Z","timestamp":1697745719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320160211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,10]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1983,10]]}},"alternative-id":["10.1002\/ajmg.1320160211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320160211","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,10]]}}}