{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:04:20Z","timestamp":1792152260616,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,24]],"date-time":"2002-01-24T00:00:00Z","timestamp":1011830400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetal akinesia deformation sequence (FADS) is a rare condition characterized by intrauterine growth retardation (IUGR), congenital limb contractures, pulmonary hypoplasia, hydramnios and craniofacial abnormalities. The present report comprises an autopsy study of three fetuses to illustrate the variable clinical manifestations and neuropathological findings. Fetus 1 had arthrogryposis and no movement on fetal ultrasound examination. Aborted at 21\u2009weeks, the fetus showed micrognathia, bilateral joint contracture with pterygia at the elbow and axilla. Growth retardation and pulmonary hypoplasia were not major features. Neuropathologic examination revealed anterior horn cell loss and lateral corticospinal tract degeneration in spinal cord, with marked muscular atrophy. Fetus 2, 20\u2009weeks' gestation, had fetal akinesia, nuchal thickening, left pleural effusion, and Dandy\u2010Walker malformation on ultrasound examination. Autopsy showed low\u2010set ears, ocular hypertelorism, cleft palate, flexion contractures with pterygia over axilla, elbow and groin, pulmonary hypoplasia, Dandy\u2010Walker malformation, unremarkable spinal cord and skeletal muscle. Fetus 3, 21\u2009weeks' gestation, was aborted for fetal akinesia, neck and limb webbing and severe arthrogryposis. At autopsy, similar facial abnormalities, contracture and pterygia in neck and multiple major joints were found. Borderline pulmonary hypoplasia and severe lumbar scoliosis were also present. The brain, spinal cord and muscle were unremarkable.<\/jats:p><jats:p>In these three fetuses, the prenatal ultrasound and autopsy findings were characteristic of FADS. Neurogenic spinal muscular atrophy was the basis of fetal akinesia in Case 1. Dandy\u2010Walker malformation was present in Case 2, but the pathogenetic mechanism of fetal akinesia was not clear as spinal cord and muscle histology appeared normal. The etiology of akinesia was undetermined in Case 3; no extrinsic or intrinsic cause was identified. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.234","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:11:41Z","timestamp":1030313501000},"page":"42-47","source":"Crossref","is-referenced-by-count":19,"title":["Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20\u201321\u2010week fetuses"],"prefix":"10.1002","volume":"22","author":[{"given":"H.","family":"Yfantis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Nonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Castellani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Harman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.\u2010C.","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,1,24]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00716474"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ajmg.1320160211","article-title":"1983. The Pena\u2010Shokeir syndrome: report of five cases and further delineation of the syndrome","volume":"16","author":"Chen H","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_4_1","first-page":"13","article-title":"The lethal multiple pterygium syndrome: a nosological approach","volume":"1","author":"de Die\u2010Smulders CEM","year":"1990","journal-title":"Genet Couns"},{"key":"e_1_2_1_5_1","first-page":"243","volume-title":"Recent Advances and New Syndromes","author":"Elias S","year":"1978"},{"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.1320250112"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199707000-00002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-199503000-00028"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200303"},{"key":"e_1_2_1_11_1","first-page":"215","article-title":"Separating Pena\u2010Shokeir syndrome from the \u201carthrogryposis basket\u201d","volume":"32","author":"Houston CS","year":"1981","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_1_12_1","first-page":"247","article-title":"Intrinsic versus extrinsically derived deformational defects: a clinical approach","volume":"7","author":"Jones MC","year":"1983","journal-title":"Semin Perinatol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210407"},{"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","doi-asserted-by":"publisher","DOI":"10.3109\/15513819509026997"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688750"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.234","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.234","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T10:15:38Z","timestamp":1700388938000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.234"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/pd.234"],"URL":"https:\/\/doi.org\/10.1002\/pd.234","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1]]}}}