{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T06:10:13Z","timestamp":1696831813495},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,4,17]],"date-time":"2007-04-17T00:00:00Z","timestamp":1176768000000},"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 B"],"published-print":{"date-parts":[[2007,9,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone\u2010shaped epiphyses, advanced bone\u2010age, and variable degrees of mental retardation. It is most likely that the disease is inherited in an autosomal dominant mode, its pathogenesis has remained unknown. We report a 4\u2010year\u2010old Japanese girl who suffered from acrodysostosis with unusual iridal color. The color of patient's irides was gray\u2010bluish in her infancy but became light\u2010brownish by age 4 years. Of eight Japanese patients reported, four had abnormal eye color: a 7\u2010month\u2010old boy with blue irides and his 2\u2010year\u2010old elder sister with light\u2010blue eyes a 6\u2010year\u2010old girl with gray\u2010brownish irides, and a 4\u2010year\u2010old girl (present case) with blue\u2010brownish irides. The degree of iris pigmentation in acrodysostosis patients may change with age. It is likely that the putative gene for acrodysostosis might play a role not only in remodeling of bones but also in iris pigmentation. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30492","type":"journal-article","created":{"date-parts":[[2007,4,17]],"date-time":"2007-04-17T16:48:34Z","timestamp":1176828514000},"page":"824-825","source":"Crossref","is-referenced-by-count":2,"title":["Acrodysostosis with unusual iridal color changing with age"],"prefix":"10.1002","volume":"144B","author":[{"given":"Eiji","family":"Nii","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Urawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiko","family":"Nshimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kitou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Taneda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsumasa","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,20]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300416"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472205"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.745"},{"key":"e_1_2_3_5_1","first-page":"307","article-title":"A case of acrodysostosis (in Jpn)","volume":"22","author":"Fujita T","year":"1995","journal-title":"J Kanagawa Med Assoc"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03045.x"},{"key":"e_1_2_3_7_1","first-page":"1300","article-title":"A case of acrodysostosis with GH deficiency (in Jpn)","volume":"96","author":"Matsuda J","year":"1992","journal-title":"J Jpn Pediatr Soc"},{"key":"e_1_2_3_8_1","first-page":"1498","article-title":"A case of acrodysostosis (in Jpn)","volume":"35","author":"Nagao Y","year":"1992","journal-title":"Cent Jpn J Orthop Traumat"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283643"},{"key":"e_1_2_3_10_1","first-page":"427","article-title":"A case of acrodysostosis with oral and tongue ulcers due to growth deficiency of the maxilla (in Jpn)","volume":"22","author":"Niimi T","year":"2001","journal-title":"J Jpn Soc Disabil Oral Health"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10519-005-9007-x"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02100140061002"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199210000-00002"},{"key":"e_1_2_3_14_1","first-page":"31","article-title":"Acrodysostosis in a sister and brother born to normal parents","volume":"38","author":"Taillet\u2010Bellemere C","year":"1991","journal-title":"Ann Pediatr (Paris)"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.2169\/naika.74.1108"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.30492","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T13:40:20Z","timestamp":1696772420000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,20]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,9,5]]}},"alternative-id":["10.1002\/ajmg.b.30492"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30492","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,20]]}}}