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Ellis–Van Creveld syndrome in siblings: A rare case report

Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dys...

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Detalles Bibliográficos
Autores principales: Gokulraj, Sabitha, Mohan, N., Raj, J. Babususai, Ahamed, S. Yasmeen, Arokiaraj, C. J. Stephen, Subbulakshmi, A. Cicilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074027/
https://www.ncbi.nlm.nih.gov/pubmed/27829775
http://dx.doi.org/10.4103/0975-7406.191954
Descripción
Sumario:Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.