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
		                        			
		                        		
		                        	
            
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