Congenital Heart Disease and Chondroectodermal Dysplasia

Ellis-Van Creveld syndrome

“…The exact prevalence remains unknown. About 100 cases have been reported between the first full description of the syndrome in 1940, by R. Ellis and S. Van Crefeld [1], and 1968 [2]. Since 1968, approximately 50 other cases have been reported in the literature.…”

Ellis-van Creveld syndrome: examination at 15 weeks' gestation

“…In one Amish group the condition is very frequent. It is an autosomal recessive condition (Jequier and Dunbar, 1973;Lynch et al, 1968). A linkage analysis of several families of different ethnic origin revealed linkage to 4p16.1 (Polymeropoulos et al, 1996).…”

“…About 50 per cent of the affected children die of cardiac or respiratory problems (Bui et al, 1984). The signs of the associated ectodermal dysplasia are constant features of EVC: sparse hair, underdeveloped and dysplastic nails (Lynch et al, 1968), and abnormal, missing, or even natal teeth. Fusion of the gums of the maxilla and the upper lips and obliteration of the sulcus gingivolabialis are also frequently seen (Ellis and Andrew, 1962).…”

Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome

“…Cardiac congenital anomalies are reported in up to 60% of cases and are the major cause of shortened life expectancy [1][2][3]. Genitourinary anomalies are present in approximately 20% of cases and can be found anywhere in the genitourinary system [4].…”