Ellis-van Creveld Syndrome
Journal: Austin Journal of Clinical Case Reports (Vol.1, No. 5)Publication Date: 2014-06-27
Authors : Rajiv Ananthakrishna; Abhijit V Kulkarni;
Page : 1-2
Keywords : Clinical features; Congenital heart disease; Syndrome;
Abstract
Ellis-van Creveld syndrome is an autosomal recessive disorder characterized by short ribs, short limbs, postaxial polydactyly, ectodermal and heart defects. It is a rare disease caused by defects in the Ellis-van Creveld syndrome genes on chromosome 4. We highlight the typical clinical features of this syndrome.
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