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CASE REPORT
Year : 2010  |  Volume : 3  |  Issue : 1  |  Page : 23-25

Ellis van creveld syndrome with unusual association of essential infantile esotropia


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-620X.60017

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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.


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