Cargando…
Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation
Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261597/ https://www.ncbi.nlm.nih.gov/pubmed/22267994 http://dx.doi.org/10.4103/2156-7514.91132 |
_version_ | 1782221606878183424 |
---|---|
author | Kundaragi, Nischal G Taori, Kishor Kumawat, Ritesh Rathod, Jawahar Sawant, Atul E |
author_facet | Kundaragi, Nischal G Taori, Kishor Kumawat, Ritesh Rathod, Jawahar Sawant, Atul E |
author_sort | Kundaragi, Nischal G |
collection | PubMed |
description | Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date. |
format | Online Article Text |
id | pubmed-3261597 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32615972012-01-20 Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation Kundaragi, Nischal G Taori, Kishor Kumawat, Ritesh Rathod, Jawahar Sawant, Atul E J Clin Imaging Sci Case Report Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date. Medknow Publications & Media Pvt Ltd 2011-12-24 /pmc/articles/PMC3261597/ /pubmed/22267994 http://dx.doi.org/10.4103/2156-7514.91132 Text en Copyright: © 2011 Kundargi NG. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Case Report Kundaragi, Nischal G Taori, Kishor Kumawat, Ritesh Rathod, Jawahar Sawant, Atul E Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation |
title | Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation |
title_full | Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation |
title_fullStr | Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation |
title_full_unstemmed | Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation |
title_short | Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation |
title_sort | ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261597/ https://www.ncbi.nlm.nih.gov/pubmed/22267994 http://dx.doi.org/10.4103/2156-7514.91132 |
work_keys_str_mv | AT kundaraginischalg ellisvancreveldsyndromewithsynpolydactylyanantenataldiagnosiswithpostnatalcorrelation AT taorikishor ellisvancreveldsyndromewithsynpolydactylyanantenataldiagnosiswithpostnatalcorrelation AT kumawatritesh ellisvancreveldsyndromewithsynpolydactylyanantenataldiagnosiswithpostnatalcorrelation AT rathodjawahar ellisvancreveldsyndromewithsynpolydactylyanantenataldiagnosiswithpostnatalcorrelation AT sawantatule ellisvancreveldsyndromewithsynpolydactylyanantenataldiagnosiswithpostnatalcorrelation |