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Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications
Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital hear...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451126/ https://www.ncbi.nlm.nih.gov/pubmed/37470539 http://dx.doi.org/10.4103/aca.aca_166_22 |
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author | Guha, Amrita Malhotra, Rohit Saxena, Rachit Keshri, Vikas K. |
author_facet | Guha, Amrita Malhotra, Rohit Saxena, Rachit Keshri, Vikas K. |
author_sort | Guha, Amrita |
collection | PubMed |
description | Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period. |
format | Online Article Text |
id | pubmed-10451126 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-104511262023-08-26 Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications Guha, Amrita Malhotra, Rohit Saxena, Rachit Keshri, Vikas K. Ann Card Anaesth Case Report Ellis–Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period. Wolters Kluwer - Medknow 2023 2023-07-07 /pmc/articles/PMC10451126/ /pubmed/37470539 http://dx.doi.org/10.4103/aca.aca_166_22 Text en Copyright: © 2023 Annals of Cardiac Anaesthesia https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Guha, Amrita Malhotra, Rohit Saxena, Rachit Keshri, Vikas K. Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications |
title | Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications |
title_full | Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications |
title_fullStr | Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications |
title_full_unstemmed | Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications |
title_short | Ellis Van Creveld Syndrome: Cardiac Anomalies and Anesthetic Implications |
title_sort | ellis van creveld syndrome: cardiac anomalies and anesthetic implications |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451126/ https://www.ncbi.nlm.nih.gov/pubmed/37470539 http://dx.doi.org/10.4103/aca.aca_166_22 |
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