{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:07Z","timestamp":1761717907384},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,15]],"date-time":"2003-05-15T00:00:00Z","timestamp":1052956800000},"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":[[2003,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a patient with severe mental retardation (MR), microcephaly, Dandy\u2013Walker malformation, bilateral lip\/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y\u2010shaped metacarpals and urogenital abnormalities. High\u2010resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg\u2013Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second\u2010site radioulnar synostosis, bilateral Y\u2010shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy\u2013Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20263","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T14:43:14Z","timestamp":1062772994000},"page":"257-260","source":"Crossref","is-referenced-by-count":7,"title":["Juberg\u2013Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features"],"prefix":"10.1002","volume":"122A","author":[{"given":"Peter","family":"Hedera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,5,15]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00067.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<278::AID-AJMG16>3.0.CO;2-C"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80138-1"},{"key":"e_1_2_4_5_1","first-page":"123","article-title":"Juberg\u2013Hayward syndrome: A new case report and clinical delineation of the syndrome","volume":"8","author":"Kantaputra PN","year":"1999","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.10.790"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160405"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.478"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00009"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.2.119"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.4.262"}],"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.20263","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20263","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:08:26Z","timestamp":1700165306000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,15]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,10,15]]}},"alternative-id":["10.1002\/ajmg.a.20263"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20263","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,15]]}}}