{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:06:58Z","timestamp":1791032818245,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,7,17]],"date-time":"2002-07-17T00:00:00Z","timestamp":1026864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The etiology of the fetal akinesia deformation sequence (FADS) is heterogeneous and can be the result of neurogenic and myopathic disorders, restrictive dermopathy, teratogen exposure, and intrauterine constraint. We present the prenatal and fetopathological findings in a consecutive series of 30 affected fetuses with normal chromosomal results. According to the in utero time of onset of the fetal akinesia, the severity of the phenotype varied from a severe, generalized FADS in the early\u2010onset group to milder defects, as isolated distal arthrogryposis in the late\u2010onset group. No more than 10% (3\/30) were diagnosed in the first trimester of pregnancy and all presented a severe phenotype. Twenty\u2010seven of the thirty (90%) were diagnosed after the first trimester, with a severe FADS in 15\/27 and a milder phenotype of distal arthrogryposis in 12\/27. In all 30 patients, extensive neuropathological studies (brain, spinal cord, and muscles) were performed. In 16 patients (53%) a specific diagnosis could be made (central nervous system abnormalities 9\/16; spinal cord 1\/16; primary myopathy 3\/16; syndromic 3\/16). In 10 others (33%), pathological neuromuscular findings were present but no definitive diagnosis was established. In 4 patients (13%), neuromuscular findings were normal, and the etiology of the FADS remained unexplained. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10698","type":"journal-article","created":{"date-parts":[[2002,10,28]],"date-time":"2002-10-28T13:59:04Z","timestamp":1035813544000},"page":"23-28","source":"Crossref","is-referenced-by-count":87,"title":["Fetal akinesia deformation sequence: A study of 30 consecutive in utero diagnoses"],"prefix":"10.1002","volume":"113","author":[{"given":"Ingrid","family":"Witters","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,7,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334450"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290305"},{"key":"e_1_2_5_4_1","first-page":"227","article-title":"Lysosomal storage diseases presenting as transient or persistent hydrops fetalis","volume":"2","author":"Bonduelle M","year":"1991","journal-title":"Genet Couns"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118895"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400509"},{"key":"e_1_2_5_7_1","first-page":"143","article-title":"Associated acral and renal malformations","volume":"5","author":"Dieker H","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03701.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250112"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00742.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-199503000-00028"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420513"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110612"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711290"},{"key":"e_1_2_5_16_1","first-page":"25","article-title":"The fetal akinesia deformation sequence. A fetopathological approach","volume":"1","author":"Moerman P","year":"1990","journal-title":"Genet Couns"},{"key":"e_1_2_5_17_1","first-page":"203","article-title":"Acrorenal syndrome in 3 siblings (abstract)","volume":"10","author":"Moerman P","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_5_18_1","first-page":"15","article-title":"Fetal akinesia sequence caused by glycogenosis type VII","volume":"6","author":"Moerman P","year":"1995","journal-title":"Genet Couns"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440205"},{"key":"e_1_2_5_20_1","first-page":"105","article-title":"Non\u2010immune hydrops fetalis caused by beta\u2010glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings","volume":"7","author":"Van Dorpe J","year":"1996","journal-title":"Genet Couns"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955190"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10208"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10698","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T20:21:47Z","timestamp":1696710107000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,17]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,11,15]]}},"alternative-id":["10.1002\/ajmg.10698"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10698","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,17]]}}}