These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.
    Author: Boujtat K, Rouf S, Boutahar I, Skiker I, Tajir M, Latrech H.
    Journal: Pediatr Endocrinol Rev; 2018 Dec; 16(2):275-283. PubMed ID: 30556660.
    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.
    [Abstract] [Full Text] [Related] [New Search]