Ellis van Creveld syndrome with unusual association of essential infantile esotropia.
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 Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.
Das
D
D
Departments of Ophthalmology and Pediatrics, R. G. Kar Medical College, Kolkata, India.
Das
G
G
Mahapatra
T K S
TK
Biswas
J
J