Synonyms
Chondroectodermal dysplasia; EVCS; Mesoectodermal dysplasia; Weyers acrodental dysostosis
Definition and Characteristics
Ellis-van Creveld syndrome (EVCS) is an autosomal recessive short rib-dwarfism characterized by congenital heart defect, short stature, narrow thorax with short ribs, postaxial polydactyly of hands and feet, ectodermal defects, and oral frenula [1] (Fig. 1). Congenital heart defect occurs in 50–60% of the cases, consisting prevalently in partial atrioventricular canal defect often associated with common atrium and persistent left superior vena cava [2]. Short stature is usually disproportionate with meso/acromelic shorting of the limbs. Polydactyly is postaxial and often manifests with a well-formed extradigit. Oral features include cleft median upper lip, multiple oral frenula between the lip and the gum, neonatal teeth, oligodontia and enamel defects. In addition to dental anomalies, ectodermal defects include dysplastic nails. Mental development is...
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References
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Digilio, M.C., Marino, B., Dallapiccola, B. (2009). Ellis-Van Creveld Syndrome. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_546
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DOI: https://doi.org/10.1007/978-3-540-29676-8_546
Publisher Name: Springer, Berlin, Heidelberg
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