{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:02:58Z","timestamp":1761843778076},"reference-count":16,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two male sib fetuses with humero\u2010radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero\u2010radial synostosis as a prominent manifestation and with the X\u2010linked lissencephaly with ambiguous genitalia syndrome (X\u2010LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero\u2010radial synostosis syndrome with an autosomal recessive or X\u2010linked pattern of inheritance. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32380","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:21:02Z","timestamp":1213410062000},"page":"1775-1780","source":"Crossref","is-referenced-by-count":3,"title":["Humero\u2010radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs"],"prefix":"10.1002","volume":"146A","author":[{"given":"Romain","family":"Guilherme","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Garel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yol\u00e8ne","family":"Huten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Oury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31612"},{"key":"e_1_2_4_3_1","first-page":"397","article-title":"Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures","author":"Antley RM","year":"1975","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10119"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979744"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<331::AID-AJMG7>3.0.CO;2-P"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000182978.56612.41"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18003112307"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01599.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070317"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg086"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00696013"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1009"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447500"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<245::AID-AJMG3>3.0.CO;2-P"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330207"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.323"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32380","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32380","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:54:12Z","timestamp":1699966452000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32380"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,13]]},"references-count":16,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,7,15]]}},"alternative-id":["10.1002\/ajmg.a.32380"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32380","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,13]]}}}