Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

Author: Joaquín PÉREZ-ANDREU ¹ ; Victor Glenn RAY ¹ ; José María ARRIBAS ¹ ; Sergio Juan SÁNCHEZ ¹
Author Information

1. Cardiovascular Surgery Service, Virgen de la Arrixaca University Hospital, Murcia, Spain.
Publication Type:Case Reports
Keywords: Ellis-van Creveld syndrome; adulthood; mitral regurgitation
MeSH: 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
From:Singapore medical journal 2015;56(6):e110-1
CountrySingapore
Language:English
Abstract: 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.