{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:10:14Z","timestamp":1759795814518,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:p>A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).<\/jats:p>","DOI":"10.1136\/jmg.30.4.322","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"322-324","source":"Crossref","is-referenced-by-count":5,"title":["Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?"],"prefix":"10.1136","volume":"30","author":[{"given":"J P","family":"Fryns","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/jor.1100020406","article-title":"Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy","volume":"2","author":"Sussman, M.D.; Kelly, T.; Rosenbaum, K.N.; Balian, G.","year":"1984","unstructured":"Sussman MD, Kelly T, Rosenbaum KN, Balian G. Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy. Orthop Res 1984;2:339-45.","journal-title":"Orthop Res"},{"key":"ref_2","article-title":"Ellis-Van Creveld syndrome (chondroectodermal dysplasia). In: Syndromes of the neck and head","volume-title":"Monographs on Medical Genetics No 19","author":"Gorlin, R.J.; When, M.M.; Nevin, S.J.","year":"1990","unstructured":"Gorlin RJ, When MM, Nevin SJ. Ellis-Van Creveld syndrome (chondroectodermal dysplasia). In: Syndromes of the neck and head. 3rd ed. Oxford Monographs on Medical Genetics No 19. New York, Oxford: Oxford University Press, 1990.","edition":"3rd ed"},{"key":"ref_3","article-title":"Chondroectodermal dysplasia. In: Radiology of syndromes, metabolic disorders and skeletal dysplasias","author":"Taybi, H.; Lackman, R.S.","year":"1990","unstructured":"Taybi H, Lackman RS. Chondroectodermal dysplasia. In: Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd ed. Chicago: Year Book Medical Publishers, 1990.","edition":"3rd ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.4.322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:27:31Z","timestamp":1759724851000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.4.322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":3,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1993,4,1]]},"published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1136\/jmg.30.4.322"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.4.322","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}