1.
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
2.
Rev Prat
; 67(8): 880, 2017 Oct.
Artigo
em Francês
| MEDLINE
| ID: mdl-30512820