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Ellis-van Creveld Syndrome

Journal: Austin Journal of Clinical Case Reports (Vol.1, No. 5)

Publication Date:

Authors : ; ;

Page : 1-2

Keywords : Clinical features; Congenital heart disease; Syndrome;

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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.

Last modified: 2016-07-25 20:13:07