Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome

Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian c...

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Autores principales: Ajmi, Houda, Ruiz Perez, Victor L., Hassayoun, Saida, Mabrouk, Sameh, Mahdoui, Sana, Boughzela, Essia, Zouari, Noura, Abroug, Saoussan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372401/
https://www.ncbi.nlm.nih.gov/pubmed/30805457
http://dx.doi.org/10.1016/j.ijpam.2015.08.004
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author Ajmi, Houda
Ruiz Perez, Victor L.
Hassayoun, Saida
Mabrouk, Sameh
Mahdoui, Sana
Boughzela, Essia
Zouari, Noura
Abroug, Saoussan
author_facet Ajmi, Houda
Ruiz Perez, Victor L.
Hassayoun, Saida
Mabrouk, Sameh
Mahdoui, Sana
Boughzela, Essia
Zouari, Noura
Abroug, Saoussan
author_sort Ajmi, Houda
collection PubMed
description Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardiography showed a partial atrioventricular canal defect with supra-systemic pulmonary artery pressure. The patient was treated; however, the evolution was fatal.
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spelling pubmed-63724012019-02-25 Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome Ajmi, Houda Ruiz Perez, Victor L. Hassayoun, Saida Mabrouk, Sameh Mahdoui, Sana Boughzela, Essia Zouari, Noura Abroug, Saoussan Int J Pediatr Adolesc Med Case Report Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardiography showed a partial atrioventricular canal defect with supra-systemic pulmonary artery pressure. The patient was treated; however, the evolution was fatal. King Faisal Specialist Hospital and Research Centre 2015 2015-11-21 /pmc/articles/PMC6372401/ /pubmed/30805457 http://dx.doi.org/10.1016/j.ijpam.2015.08.004 Text en Copyright © 2015, King Faisal Specialist Hospital & Research Centre (General Organization),. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ajmi, Houda
Ruiz Perez, Victor L.
Hassayoun, Saida
Mabrouk, Sameh
Mahdoui, Sana
Boughzela, Essia
Zouari, Noura
Abroug, Saoussan
Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
title Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
title_full Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
title_fullStr Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
title_full_unstemmed Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
title_short Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome
title_sort ellis van creveld syndrome in a tunisian child revealed by an eisenmenger syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372401/
https://www.ncbi.nlm.nih.gov/pubmed/30805457
http://dx.doi.org/10.1016/j.ijpam.2015.08.004
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