Ellis-van Creveld Syndrome: A Case Report and Literature Review

Ellisvan Creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects. nbsp;We describe a 22yearold boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multiple frenula, ASD, VSD, narrow thorax, hypospadias, scar of the removal of postaxial polydactyly of the fingers, dysplastic nails, and normal cognition. nbsp;Based on positive signs and symptoms, the proband was suspected to have Ellisvan Creveld syndrome. Sequencing of EVC2 gene revealed a homozygous nonsense variant, c.942GA, p.(Trp314) in exon 8 of the EVC2 gene.