{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:18:55Z","timestamp":1760782735391},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7733,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Seven individuals from 3 generations of a French\u2010Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed renal ectopia without fusion; other urinary tract anomalies were vesicoureteral reflux and bladder diverticula. Ocular manifestations varied from complete eye coloboma, coloboma of the optic nerve, ptosis, and Duane anomaly. The syndrome seems to be an autosomal dominant trait with high penetrance and variable expressivity. Dermatoglyphics were abnormal; in addition to a triradius <jats:italic>t<\/jats:italic>' present in all, some also had various combinations of high TRC, thenar exit of A line, and rare patterns in interdigital area IV.<\/jats:p>","DOI":"10.1002\/ajmg.1320170406","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:39:21Z","timestamp":1118518761000},"page":"753-762","source":"Crossref","is-referenced-by-count":52,"title":["Acro\u2010renal\u2010ocular syndrome: Autosomal dominant thumb hypoplasia, renal ectopia, and eye defect"],"prefix":"10.1002","volume":"17","author":[{"given":"Fahed","family":"Halal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magda","family":"Homsy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giiles","family":"Perreault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440537"},{"key":"e_1_2_1_3_1","volume-title":"Limb Malformations, Part III","author":"Dieker H","year":"1969"},{"issue":"3","key":"e_1_2_1_3_2","first-page":"68","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80051-3"},{"key":"e_1_2_1_5_1","first-page":"936","volume-title":"L'atteinte r\u00e9nale au cours des syndromes malformatifs h\u00e9r\u00e9ditaires","author":"Gilbert EF","year":"1979"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050310"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(64)90841-5"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00118.x"},{"key":"e_1_2_1_9_1","volume-title":"The Genetics of Hand Malformations","author":"Temtamy S","year":"1978"},{"issue":"3","key":"e_1_2_1_9_2","first-page":"133","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320170406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320170406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T20:51:00Z","timestamp":1697748660000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320170406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,4]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1984,4]]}},"alternative-id":["10.1002\/ajmg.1320170406"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320170406","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,4]]}}}