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There were severe musculo\u2010skeletal distinguishing features such as joint stiffness, severe kyphoscoliosis, and multiple large joint dislocations. Moreover, the patients had an additional remarkable radiographic feature not reported in Desbequois dysplasia\u2014multiple carpal ossification centers. The diagnosis of Desbuquois dysplasia is more difficult in older children and adults as the characteristic facial features of early childhood may recede, and the metaphyseal growth plates obliterate. This condition of these patients represents a novel Desbuquois\u2010like syndrome. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30344","type":"journal-article","created":{"date-parts":[[2004,11,23]],"date-time":"2004-11-23T01:28:03Z","timestamp":1101173283000},"page":"68-75","source":"Crossref","is-referenced-by-count":7,"title":["A novel syndrome resembling Desbuquois dysplasia"],"prefix":"10.1002","volume":"132A","author":[{"given":"Ali","family":"Al Kaissi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Nessib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.B.","family":"Ghachem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Hammou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Guiddana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02639.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01409.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200317"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00580591"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1673.2000.00852.x"},{"key":"e_1_2_4_7_1","first-page":"573","article-title":"Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs","volume":"23","author":"Desbuquois G","year":"1966","journal-title":"Arch Franc Pediatr"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.282"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20440"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20441"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199504000-00005"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000358"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02013506"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026714"},{"key":"e_1_2_4_15_1","first-page":"597","article-title":"L'heterogeneite du syndrome de Larsen","volume":"32","author":"Maroteaux P","year":"1975","journal-title":"Arch Franc Pediatr"},{"key":"e_1_2_4_16_1","first-page":"pp 471","volume-title":"Maladies osseuses de l'enfant","author":"Maroteaux P","year":"2002"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320333"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051124"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510308"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388409"},{"key":"e_1_2_4_21_1","first-page":"541","article-title":"Dysplasie osseuse avec nanisme et alterations squelettiques diffuses. Six observations","volume":"32","author":"Piussan C","year":"1975","journal-title":"Arch Franc Ped"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520104"},{"key":"e_1_2_4_23_1","first-page":"248","volume-title":"Bone dysplasias, Chapter 64","author":"Spranger JW","year":"2002"}],"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.30344","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:51:35Z","timestamp":1697658695000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,22]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1002\/ajmg.a.30344"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30344","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,22]]}}}