Open AccessEllis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report
Author(s) -
Ehsan Alaee,
Shirafkan Ali,
Hasheminejad Reihane,
Tourisa Deilami,
Alireza Kia
Publication year - 2014
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2014/5444.5011
Subject(s) - medicine , polydactyly , girl , presentation (obstetrics) , dermatology , anatomy , surgery , genetics , biology
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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