Abstract

ERAZO-NARVAEZ, Andrés Felipe; MUNOZ-VIDAL, Juan Manuel  and  ACOSTA-ARAGON, María Amparo. Ellis Van Creveld syndrome. Revista médica Risaralda [online]. 2020, vol.26, n.2, pp.160-165. ISSN 0122-0667.  https://doi.org/10.22517/25395203.21321.

Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.

Keywords : Ellis Van Creveld Syndrome; Polydactyly; Dwarfism; Heart Congenital Defects; Genu Valgum; Diastema.

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