{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T22:02:27Z","timestamp":1698357747519},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7307,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pena and Shokeir [J Pediatr 85:373\u2013375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena\u2010Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena\u2010Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320210208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:24:51Z","timestamp":1118496291000},"page":"271-277","source":"Crossref","is-referenced-by-count":21,"title":["Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?"],"prefix":"10.1002","volume":"21","author":[{"given":"Helga V.","family":"Toriello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven C.","family":"Bauserman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James V.","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"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"},{"key":"e_1_2_1_4_2","first-page":"133","volume":"3","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","volume-title":"Recent Advances and Syndromes","author":"Elias S","year":"1978"},{"issue":"6","key":"e_1_2_1_5_2","first-page":"243","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170410"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120404"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80644-5"},{"key":"e_1_2_1_9_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_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140304"},{"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","journal-title":"BD:OAS"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80352-7"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.72.6.857"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80119-8"},{"key":"e_1_2_1_17_1","volume-title":"Cytogenetics, Environment, and Malformation Syndromes","author":"Pena SDJ","year":"1976"},{"issue":"5","key":"e_1_2_1_17_2","first-page":"201","journal-title":"BD:OAS"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(46)80241-5"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80120-4"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80753-5"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170412"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80633-7"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688750"},{"key":"e_1_2_1_24_1","unstructured":"WittDR HaydenMR BaldwinVJ WoodWS HallJG(1984) Constrictive dermopathy: An example of the fetal akinesia sequence. 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