{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:43:56Z","timestamp":1791330236421,"version":"4.3.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,9,2]],"date-time":"2003-09-02T00:00:00Z","timestamp":1062460800000},"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>Radiological features of 35 patients with the diagnosis of Desbuquois dysplasia were analyzed. The diagnosis of Desbuquois dysplasia was based on the association of specific facial alterations, markedly short stature of prenatal onset, joint laxity, \u2018Swedish key\u2019 appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients were divided into two groups, depending on whether or not typical hands with an extra ossification center distal to the second metacarpal and\/or a delta phalanx of the thumb were present (group 1, 46%) or absent (group 2, 54%). In this study, beside the \u2018Swedish key\u2019 appearance of the proximal femur and advanced carpal and tarsal ossification, we were able to define three additional major radiographic criteria for the diagnosis of Desbuquois dysplasia, including flat acetabular roof, elevated greater trochanter, and proximal fibular overgrowth. Other manifestations included wide metaphyses, flat epiphyses, coxa valga, coronal and saggital clefts of the vertebrae, wide anterior rib portions, medial deviation of the foot, and enlarged first metatarsal. We conclude that characteristic hand abnormalities are not mandatory for the diagnosis of Desbuquois dysplasia. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20440","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T09:00:28Z","timestamp":1071219628000},"page":"48-53","source":"Crossref","is-referenced-by-count":45,"title":["Desbuquois dysplasia, a reevaluation with abnormal and \u201cnormal\u201d hands: Radiographic manifestations"],"prefix":"10.1002","volume":"124A","author":[{"given":"Laurence","family":"Faivre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison M.","family":"Eliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Field","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine Le","family":"Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,9,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01409.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200317"},{"key":"e_1_2_6_4_1","first-page":"129","article-title":"Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature","volume":"33","author":"Canki\u2010Klain N","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_6_5_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 Pediatr"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80227-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199504000-00005"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000358"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02013506"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.140.1.6787663"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80014-8"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026714"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320333"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510308"},{"key":"e_1_2_6_15_1","first-page":"29","volume-title":"The hand in radiologic diagnosis","author":"Poznanski AK","year":"1974"},{"key":"e_1_2_6_16_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_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520104"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01395.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197201000-00003"}],"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.20440","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T16:24:39Z","timestamp":1700151879000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9,2]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/ajmg.a.20440"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20440","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9,2]]}}}