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Pediatr Endocrinol Rev ; 16(2): 275-283, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30556660

RESUMO

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.


Assuntos
Síndrome de Dandy-Walker , Síndrome de Ellis-Van Creveld , Polidactilia , Sistema Nervoso Central , Criança , Humanos , Rim , Masculino
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