Ellis van Creveld syndrome with unusual association of essential infantile esotropia

ABSTRACT

Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six-month-old female infant with Elis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature