{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T08:50:28Z","timestamp":1780044628686,"version":"3.53.1"},"reference-count":14,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2008,7,25]],"date-time":"2008-07-25T00:00:00Z","timestamp":1216944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2008,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To determine fetal features, which could lead to the diagnosis of Prader\u2010Willi syndrome (PWS) during pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11\u2010q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi\u2010extended feet with flexed toes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright \u00a9 2008 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1973","type":"journal-article","created":{"date-parts":[[2008,7,25]],"date-time":"2008-07-25T14:53:19Z","timestamp":1216997599000},"page":"796-799","source":"Crossref","is-referenced-by-count":38,"title":["Prader\u2010Willi syndrome: is there a recognizable fetal phenotype?"],"prefix":"10.1002","volume":"28","author":[{"given":"Nicole","family":"Bigi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Michel","family":"Faure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Coubes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Puechberty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Lefort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Sarda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Blanchet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,25]]},"reference":[{"issue":"11","key":"e_1_2_1_2_1","first-page":"1251","article-title":"Physical features of Prader\u2010Willi syndrome in neonates","volume":"144","author":"Aughton DJ","year":"1990","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350306"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.90"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.5.e92"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000021026"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-993832"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100608"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.732"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.004"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<130::AID-AJMG7>3.0.CO;2-R"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31223"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2004.00473.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050901"},{"issue":"2","key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000484740","article-title":"A single\u2010tube PCR test for the diagnosis of Angelman and Prader\u2010Willi syndrome based on allelic methylation differences at the SNRPN locus","volume":"5","author":"Zeschnigk M","year":"1997","journal-title":"Eur J Hum Genet"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1973","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1973","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T07:33:04Z","timestamp":1700033584000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1973"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,25]]},"references-count":14,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["10.1002\/pd.1973"],"URL":"https:\/\/doi.org\/10.1002\/pd.1973","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,25]]}}}