Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Journal: Pediatric Endocrinology Reviews : PER
Published:
Abstract

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature.

Authors
Khadija Boujtat, Siham Rouf, Imane Boutahar, Imane Skiker, Mariam Tajir, Hanane Latrech