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Ellis-van Creveld Syndrome: A Case Report
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. ‘Six-fingered dwarfism’ (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Jaypee Brothers Medical Publishers
2012
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4093642/ https://www.ncbi.nlm.nih.gov/pubmed/25206139 http://dx.doi.org/10.5005/jp-journals-10005-1138 |
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author | Singh, Subash Arya, Vandana Daniel, M Jonathan Vasudevan, Vijeev |
author_facet | Singh, Subash Arya, Vandana Daniel, M Jonathan Vasudevan, Vijeev |
author_sort | Singh, Subash |
collection | PubMed |
description | Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. ‘Six-fingered dwarfism’ (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation and often prenatal eruption of the teeth. A typical case of Ellis-van Creveld syndrome is reported in the present article. How to cite this article: Singh S, Arya V, Daniel MJ, Vasudevan V. Ellis-van Creveld Syndrome: A Case Report . Int J Clin Pediatr Dent 2012;5(1):72-74. |
format | Online Article Text |
id | pubmed-4093642 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Jaypee Brothers Medical Publishers |
record_format | MEDLINE/PubMed |
spelling | pubmed-40936422014-09-09 Ellis-van Creveld Syndrome: A Case Report Singh, Subash Arya, Vandana Daniel, M Jonathan Vasudevan, Vijeev Int J Clin Pediatr Dent Case Report Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. ‘Six-fingered dwarfism’ (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation and often prenatal eruption of the teeth. A typical case of Ellis-van Creveld syndrome is reported in the present article. How to cite this article: Singh S, Arya V, Daniel MJ, Vasudevan V. Ellis-van Creveld Syndrome: A Case Report . Int J Clin Pediatr Dent 2012;5(1):72-74. Jaypee Brothers Medical Publishers 2012 2012-02-24 /pmc/articles/PMC4093642/ /pubmed/25206139 http://dx.doi.org/10.5005/jp-journals-10005-1138 Text en Copyright © 2012; Jaypee Brothers Medical Publishers (P) Ltd. This work is licensed under a Creative Commons Attribution 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/ |
spellingShingle | Case Report Singh, Subash Arya, Vandana Daniel, M Jonathan Vasudevan, Vijeev Ellis-van Creveld Syndrome: A Case Report |
title | Ellis-van Creveld Syndrome: A Case Report |
title_full | Ellis-van Creveld Syndrome: A Case Report |
title_fullStr | Ellis-van Creveld Syndrome: A Case Report |
title_full_unstemmed | Ellis-van Creveld Syndrome: A Case Report |
title_short | Ellis-van Creveld Syndrome: A Case Report |
title_sort | ellis-van creveld syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4093642/ https://www.ncbi.nlm.nih.gov/pubmed/25206139 http://dx.doi.org/10.5005/jp-journals-10005-1138 |
work_keys_str_mv | AT singhsubash ellisvancreveldsyndromeacasereport AT aryavandana ellisvancreveldsyndromeacasereport AT danielmjonathan ellisvancreveldsyndromeacasereport AT vasudevanvijeev ellisvancreveldsyndromeacasereport |