{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T08:48:22Z","timestamp":1706518102841},"reference-count":10,"publisher":"Scientific Scholar","content-domain":{"domain":["clinicalimagingscience.org"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld Syndrome (EvC). Both the syndromes have been mapped to the same chromosome, 4p16. The cases reported here highlight the overlapping features of both syndromes, which are dissimilar in mode of inheritance and phenotypic severity, emphasizing the need for genetic analysis, to categorize these conditions.<\/jats:p>","DOI":"10.4103\/2156-7514.95432","type":"journal-article","created":{"date-parts":[[2012,4,28]],"date-time":"2012-04-28T09:39:48Z","timestamp":1335605988000},"page":"18","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis"],"prefix":"10.25259","volume":"2","author":[{"given":"Devi C.","family":"Shetty","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Pathology and Microbiology, I.T.S. Center for Dental Studies and Research, Muradnagar, Ghaziabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harkanwal P.","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Pathology and Microbiology, I.T.S. Center for Dental Studies and Research, Muradnagar, Ghaziabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prince","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics and Oral Implantology, I.T.S. Center for Dental Studies and Research, Muradnagar, Ghaziabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanchal","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Pathology and Microbiology, I.T.S. Center for Dental Studies and Research, Muradnagar, Ghaziabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2012,4,28]]},"reference":[{"key":"10.4103\/2156-7514.95432\/ref-1","article-title":"Diseases of bones and joints","volume-title":"Shafer's Textbook of Oral Pathology","author":"Shafer","year":"2006","edition":"5th ed"},{"key":"10.4103\/2156-7514.95432\/ref-2","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1111\/j.1399-0004.1984.tb01108.x","article-title":"Weyers acrodental dysostosis in a family","volume":"26","author":"Roubicek","year":"1984","journal-title":"Clin Genet"},{"key":"10.4103\/2156-7514.95432\/ref-3","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/73508","article-title":"Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis","volume":"2","author":"Ruiz-Perez","year":"2000","journal-title":"Nat Genet"},{"key":"10.4103\/2156-7514.95432\/ref-4","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/j.tripleo.2006.02.028","article-title":"Report of a new syndrome: Focus on differential diagnosis and review of Ellis-van Creveld, Curry- Hall, Acrofacial dysostosis, and orofacial digital syndromes","volume":"103","author":"Ghosh","year":"2007","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.4103\/2156-7514.95432\/ref-5","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1002\/humu.21117","article-title":"Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling","volume":"30","author":"Valencia","year":"2009","journal-title":"Hum Mutat"},{"key":"10.4103\/2156-7514.95432\/ref-6","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1471-2350-11-33","article-title":"Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates","volume":"11","author":"Ali","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.4103\/2156-7514.95432\/ref-7","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1750-1172-2-27","article-title":"Ellis-van Creveld syndrome","volume":"2","author":"Baujat","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.4103\/2156-7514.95432\/ref-8","first-page":"E340","article-title":"Ellis-Van Creveld Syndrome.Case report and literature review","volume":"14","author":"Alves-Pereira","year":"2009","journal-title":"Med Oral Patol Oral Cir Bucal"},{"key":"10.4103\/2156-7514.95432\/ref-9","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/73389","article-title":"Ellis-van Creveld syndrome and the Amish","volume":"24","author":"McKusick","year":"2000","journal-title":"Nat Genet"},{"issue":"Suppl","key":"10.4103\/2156-7514.95432\/ref-10","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/ajmg.1320280523","article-title":"Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: A clinicopathologic study","volume":"3","author":"Yang","year":"1987","journal-title":"Am J Med Genet"}],"container-title":["Journal of Clinical Imaging Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/clinicalimagingscience.org\/report-of-two-siblings-with-overlapping-features-of-ellis-van-creveld-and-weyers-acrodental-dysostosis\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/clinicalimagingscience.org\/report-of-two-siblings-with-overlapping-features-of-ellis-van-creveld-and-weyers-acrodental-dysostosis\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T04:59:31Z","timestamp":1567141171000},"score":1,"resource":{"primary":{"URL":"https:\/\/clinicalimagingscience.org\/report-of-two-siblings-with-overlapping-features-of-ellis-van-creveld-and-weyers-acrodental-dysostosis\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,28]]},"references-count":10,"alternative-id":["10.4103\/2156-7514.95432"],"URL":"https:\/\/doi.org\/10.4103\/2156-7514.95432","relation":{},"ISSN":["2156-7514"],"issn-type":[{"value":"2156-7514","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,28]]},"article-number":"18"}}