1.Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.
Joaquín PÉREZ-ANDREU ; Victor Glenn RAY ; José María ARRIBAS ; Sergio Juan SÁNCHEZ
Singapore medical journal 2015;56(6):e110-1
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