| CASE REPORT |
|
| Year : 2010 | Volume
: 3
| Issue : 1 | Page : 23-25 |
|
|
Ellis van creveld syndrome with unusual association of essential infantile esotropia
D Das, G Das, T.K.S Mahapatra, J Biswas
Departments of Ophthalmology and Pediatrics, R. G. Kar Medical College, Kolkata, India
Correspondence Address:
D Das
E-8 Shyamali Estate, Ea Block, Sector-I, Saltlake City, Kolkata - 64
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0974-620X.60017
|
|
|
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. |
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
