{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T05:46:27Z","timestamp":1726119987095},"reference-count":2,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7550,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fibrochondrogenesis is a distinct, neonatally lethal, short\u2010limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro\u2010osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell\u2010shaped with metaphyseal flare. The spine is platyspondylic with superior\u2010inferior clefting defects, and the ribs are short and distally cupped. The growth\u2010plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.<\/jats:p>","DOI":"10.1002\/ajmg.1320190210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:53:03Z","timestamp":1118519583000},"page":"277-290","source":"Crossref","is-referenced-by-count":24,"title":["Fibrochondrogenesis: Radiologic and histologic studies"],"prefix":"10.1002","volume":"19","author":[{"given":"Donna Jane","family":"Eteson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerald E.","family":"Adomian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asher","family":"Ornoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Koide","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuo","family":"Sugiura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Calabro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Lungarotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierpaolo","family":"Mastroiacovo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1096","article-title":"La fibrochondrogenese","volume":"35","author":"Lazzaroni\u2010Fossati F","year":"1978","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_3_1","first-page":"133A","article-title":"Fibrochondrogenesis: A rare short\u2010limbed skeletal dysplasia","volume":"30","author":"Eteson DJ","year":"1982","journal-title":"Clin Res"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190210","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T01:00:27Z","timestamp":1697763627000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,10]]},"references-count":2,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1984,10]]}},"alternative-id":["10.1002\/ajmg.1320190210"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190210","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,10]]}}}