No abstract available.
Ellis-Van Creveld Syndrome*

DNA Mutational Analysis ; methods ; Ellis-Van Creveld Syndrome ; diagnosis ; Female ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis ; methods ; Proteins ; genetics ; Ultrasonography, Prenatal

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.
Adult ; Ellis-Van Creveld Syndrome ; diagnosis ; genetics ; surgery ; Genes, Recessive ; Hand Deformities ; complications ; Humans ; Life Expectancy ; Male ; Mitral Valve Insufficiency ; surgery ; Prognosis ; Quality of Life ; Tooth Abnormalities ; complications