{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T12:56:19Z","timestamp":1761742579678},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5180,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently Maroteaux et al. [Am J Med Genet 32:371\u2013375] described omodysplasia as a new distinct congenital bone disorder in 3 cases; autosomal dominant inheritance was suggested. In this same report, 2 other cases (patients 4 and 5) presented with the same facial and upper limb anomalies, but were also noted to have severe shortness of lower limbs. The authors considered all 5 cases to represent variable expressivity of the same disorder, namely, omodysplasia. Here we report 4 patients (3 survivors), offspring of consanguineous Arabic\u2010Moslem couples. All presented at birth with severe short limb dwarfism and facial and radiologic appearance quite distinct from the first 3 patients of Maroteaux et al. [1989] with so\u2010called omodysplasia. Thus, we suggest that our 4 cases and patients 4 and 5 of Maroteaux et al. [1989] represent a distinct, previously unpublished bone dysplasia.<\/jats:p>","DOI":"10.1002\/ajmg.1320390120","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:17:45Z","timestamp":1118546265000},"page":"91-96","source":"Crossref","is-referenced-by-count":20,"title":["Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome"],"prefix":"10.1002","volume":"39","author":[{"given":"Zvi","family":"Borochowitz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mila","family":"Barak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Hershkowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-29-341-295"},{"key":"e_1_2_1_3_1","first-page":"407","article-title":"Humero\u2010spinal dysostosis with congenital heart disease","volume":"127","author":"Kozlowski KS","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320321"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/114.2.341"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00775.x"},{"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":"\u00dcber symmetrische Verk\u00fcrzung der Humeri","volume":"11","author":"Yang TS","year":"1976","journal-title":"Padiatr Padol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:28:17Z","timestamp":1698067697000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,4]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,4]]}},"alternative-id":["10.1002\/ajmg.1320390120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390120","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,4]]}}}