{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T04:44:31Z","timestamp":1778042671103,"version":"3.51.4"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T00:00:00Z","timestamp":1066953600000},"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":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Desbuquois dysplasia is a rare chondrodysplasia characterized by short stature, joint laxity, and specific radiographic findings. We report the natural history of four patients (three boys and one girl) with Desbuquois dysplasia ages 16\u201322 years. The mean height in adulthood was 114 cm (\u22128.5 SD) with progressive deceleration of the growth curve from birth (\u22124 SD) to adulthood. Obesity was noted consistently and facial abnormalities were still present but less obvious than in childhood. Three of four patients had mental retardation of varying degree. Hyperlaxity was persistent but limited motion of various joints was also noted. Orthopedic complications included coxa vara or valga (3\/4), scoliosis (3\/4), marked lordosis (3\/4), and ambulatory difficulties (3\/4). Surgical treatment was necessary for all four patients, involving large joints, spine and hands. Other complications included acute open\u2010angle glaucoma secondary to a congenital malformation of the angle in one case. In addition to consistent radiological findings, elevated greater trochanter, generalized osteoporosis especially of the spine, scoliosis and\/or lordosis, wide metaphyses, flat epiphyses, and coxa vara or valga were part of the natural history of the disorder. Our study emphasizes the care of older patients with Desbuquois dysplasia. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20441","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T09:00:28Z","timestamp":1071219628000},"page":"54-59","source":"Crossref","is-referenced-by-count":21,"title":["Long\u2010term outcome in desbuquois dysplasia: A follow\u2010up in four adult patients"],"prefix":"10.1002","volume":"124A","author":[{"given":"Laurence","family":"Faivre","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henri","family":"Bracq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georges","family":"Finidori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Paul","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine Le","family":"Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,24]]},"reference":[{"key":"e_1_2_3_2_1","first-page":"573","article-title":"Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux s\u00e6urs","volume":"23","author":"Desbuquois G","year":"1966","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_3_3_1","doi-asserted-by":"crossref","unstructured":"Gillessen\u2010KaesbachG MeineckeP AusemsMGEM N\u00f6thenM AlbrechtB BeemerFA ZerresK.1995.Desbuquois syndrome: Three further cases and review of the literature. Clin Dysmorphol4:136\u2013144.","DOI":"10.1097\/00019605-199504000-00005"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026714"},{"key":"e_1_2_3_5_1","first-page":"541","article-title":"Dysplasie osseuse avec nanisme et alt\u00e9rations squelettiques diffuses. Six observations","volume":"32","author":"Puissan C","year":"1975","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520104"}],"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.20441","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20441","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T16:25:11Z","timestamp":1700151911000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,24]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/ajmg.a.20441"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20441","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,24]]}}}