{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T17:18:24Z","timestamp":1700673504934},"reference-count":21,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T00:00:00Z","timestamp":1226448000000},"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":[[2008,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup\u2010to\u2010disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup\u2010to\u2010disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great\u2010uncle, a half great\u2010uncle, and six male half\u2010cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup\u2010to\u2010disc ratio. In addition, the great\u2010grandfather, the uncle, the same six male half\u2010cousins once removed, and an affected daughter of a half\u2010cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X\u2010linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32573","type":"journal-article","created":{"date-parts":[[2008,11,13]],"date-time":"2008-11-13T02:38:57Z","timestamp":1226543937000},"page":"3120-3125","source":"Crossref","is-referenced-by-count":6,"title":["A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup\u2010to\u2010disc ratio and renal stones"],"prefix":"10.1002","volume":"146A","author":[{"given":"Candy A.","family":"Heyen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula R.","family":"Delk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn J.","family":"Bull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David D.","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,11,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1308\/003588406X83104"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI26662"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2003.028548"},{"key":"e_1_2_5_6_1","first-page":"351","volume-title":"The practice of hand surgery","author":"Curtis RM","year":"1989"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1979.tb01858.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1177\/014107688607900817","article-title":"Aggressive polyfibromatosis","volume":"79","author":"Fenton DA","year":"1986","journal-title":"J R Soc Med"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1053\/jhsu.2001.22916"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(95)90031-4"},{"key":"e_1_2_5_11_1","first-page":"889","article-title":"Component evaluation of cup\/disk ratio estimation","volume":"55","author":"Good GW","year":"1984","journal-title":"J Am Optom Assoc"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00742.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1302\/0301-620X.45B4.709","article-title":"The genetic factor in Dupuytren's disease","volume":"45","author":"Ling RS","year":"1963","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(03)00570-1"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.137.11.1429"},{"key":"e_1_2_5_17_1","first-page":"775","article-title":"Osteopoikilosis and connective tissue naevi: A syndrome of hereditary polyfibromatosis","volume":"44","author":"Marshall J","year":"1970","journal-title":"S Afr Med J"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(99)90457-8"},{"key":"e_1_2_5_19_1","first-page":"1","article-title":"La polyfibromatose hereditaire","volume":"5","author":"Touraine A","year":"1945","journal-title":"Ann Dermatol Syph"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6109(05)70576-4"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1054\/jhsb.1999.0154"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01831.x"}],"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.32573","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:33:21Z","timestamp":1697621601000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,12]]},"references-count":21,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2008,12,15]]}},"alternative-id":["10.1002\/ajmg.a.32573"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32573","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,12]]}}}