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Ellis-van Creveld syndrome in an Indian child: a case report
Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Academy of Oral and Maxillofacial Radiology
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251790/ https://www.ncbi.nlm.nih.gov/pubmed/22232726 http://dx.doi.org/10.5624/isd.2011.41.4.167 |
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author | Veena, K.M. Jagadishchandra, H. Rao, Prasanna Kumar Chatra, Laxmikanth |
author_facet | Veena, K.M. Jagadishchandra, H. Rao, Prasanna Kumar Chatra, Laxmikanth |
author_sort | Veena, K.M. |
collection | PubMed |
description | Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case. |
format | Online Article Text |
id | pubmed-3251790 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Korean Academy of Oral and Maxillofacial Radiology |
record_format | MEDLINE/PubMed |
spelling | pubmed-32517902012-01-09 Ellis-van Creveld syndrome in an Indian child: a case report Veena, K.M. Jagadishchandra, H. Rao, Prasanna Kumar Chatra, Laxmikanth Imaging Sci Dent Case Report Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case. Korean Academy of Oral and Maxillofacial Radiology 2011-12 2011-12-19 /pmc/articles/PMC3251790/ /pubmed/22232726 http://dx.doi.org/10.5624/isd.2011.41.4.167 Text en Copyright © 2011 by Korean Academy of Oral and Maxillofacial Radiology http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Veena, K.M. Jagadishchandra, H. Rao, Prasanna Kumar Chatra, Laxmikanth Ellis-van Creveld syndrome in an Indian child: a case report |
title | Ellis-van Creveld syndrome in an Indian child: a case report |
title_full | Ellis-van Creveld syndrome in an Indian child: a case report |
title_fullStr | Ellis-van Creveld syndrome in an Indian child: a case report |
title_full_unstemmed | Ellis-van Creveld syndrome in an Indian child: a case report |
title_short | Ellis-van Creveld syndrome in an Indian child: a case report |
title_sort | ellis-van creveld syndrome in an indian child: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251790/ https://www.ncbi.nlm.nih.gov/pubmed/22232726 http://dx.doi.org/10.5624/isd.2011.41.4.167 |
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