<i>Ellis-van Creveld syndrome</i>: A case report
Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2008-05-01
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| Series: | Journal of Indian Society of Pedodontics and Preventive Dentistry |
| Subjects: | |
| Online Access: | http://www.jisppd.com/article.asp?issn=0970-4388;year=2008;volume=26;issue=5;spage=19;epage=22;aulast=Shah |
| _version_ | 1811293021635870720 |
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| author | Shah B Ashok L Sujatha G |
| author_facet | Shah B Ashok L Sujatha G |
| author_sort | Shah B |
| collection | DOAJ |
| description | Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations. |
| first_indexed | 2024-04-13T04:55:12Z |
| format | Article |
| id | doaj.art-54b34bf8fdce4909918e8b63f1ebb0a0 |
| institution | Directory Open Access Journal |
| issn | 0970-4388 |
| language | English |
| last_indexed | 2024-04-13T04:55:12Z |
| publishDate | 2008-05-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Indian Society of Pedodontics and Preventive Dentistry |
| spelling | doaj.art-54b34bf8fdce4909918e8b63f1ebb0a02022-12-22T03:01:32ZengWolters Kluwer Medknow PublicationsJournal of Indian Society of Pedodontics and Preventive Dentistry0970-43882008-05-012651922<i>Ellis-van Creveld syndrome</i>: A case reportShah BAshok LSujatha GEllis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations.http://www.jisppd.com/article.asp?issn=0970-4388;year=2008;volume=26;issue=5;spage=19;epage=22;aulast=ShahEllis-van Creveld syndromeenamel hypoplasiapolydactyly |
| spellingShingle | Shah B Ashok L Sujatha G <i>Ellis-van Creveld syndrome</i>: A case report Journal of Indian Society of Pedodontics and Preventive Dentistry Ellis-van Creveld syndrome enamel hypoplasia polydactyly |
| title | <i>Ellis-van Creveld syndrome</i>: A case report |
| title_full | <i>Ellis-van Creveld syndrome</i>: A case report |
| title_fullStr | <i>Ellis-van Creveld syndrome</i>: A case report |
| title_full_unstemmed | <i>Ellis-van Creveld syndrome</i>: A case report |
| title_short | <i>Ellis-van Creveld syndrome</i>: A case report |
| title_sort | i ellis van creveld syndrome i a case report |
| topic | Ellis-van Creveld syndrome enamel hypoplasia polydactyly |
| url | http://www.jisppd.com/article.asp?issn=0970-4388;year=2008;volume=26;issue=5;spage=19;epage=22;aulast=Shah |
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