{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T09:43:18Z","timestamp":1792489398227,"version":"4.5.0"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5938,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. The complex skeletal abnormalities consist of a defect of growth of the distal end of the humerus, a hypoplastic everted condyle, an upper radioulnar diastasis, and a anterolateral dislocation of the head of the radius. The condition is dominantly inherited.<\/jats:p><jats:p>Two other cases with the same facial anomalies and osteoarticular abnormalities of the upper limbs are described. These cases also showed a severe micromelic dwarfism due to shortness of the long bones, particularly the femora. The present authors consider that these represent variable expressivity of the same disorder and propose that this condition be called <jats:italic>omodysplasia<\/jats:italic> (from the Greek term for humerus).<\/jats:p>","DOI":"10.1002\/ajmg.1320320321","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:28:16Z","timestamp":1118546896000},"page":"371-375","source":"Crossref","is-referenced-by-count":44,"title":["Omodysplasia"],"prefix":"10.1002","volume":"32","author":[{"given":"P.","family":"Maroteaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Sauvegrain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Chrispin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. P.","family":"Farriaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"682","article-title":"Microm\u00e9lie cong\u00e9nitale limit\u00e9e aux deux humerus","volume":"22","author":"Danlos","year":"1909","journal-title":"Nouv Iconogr Salpet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-29-341-295"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/114.2.341"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00775.x"},{"key":"e_1_2_1_6_1","first-page":"447","article-title":"Syndrome de Robinow \u00e0 transmission dominante","volume":"39","author":"Vall\u00e9e L","year":"1982","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260425"},{"key":"e_1_2_1_8_1","first-page":"12","article-title":"Uber symmetrische Verk\u00fcrzung der Humeri","volume":"11","author":"Yang TS","year":"1976","journal-title":"P\u00e4diatr P\u00e4dol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320321","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T12:45:25Z","timestamp":1697978725000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1002\/ajmg.1320320321"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320321","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}