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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Detalles Bibliográficos
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

Internet

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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