Ellis van Creveld syndrome (EVCS) is mainly characterized by dysplatic changes in skeletal structures along with variable inter- and intra-familial patterns. Shortening of bony structures such as ribs and limbs, postaxial polydactyly, and dysplastic teeth and nails are among the clinical presentation of this autosomal recessive disease.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253240 | PMC |
http://dx.doi.org/10.7860/JCDR/2014/5444.5011 | DOI Listing |
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