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
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.
How to cite this article:
Das D, Das G, Mahapatra T, Biswas J. Ellis van creveld syndrome with unusual association of essential infantile esotropia.Oman J Ophthalmol 2010;3:23-25
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How to cite this URL:
Das D, Das G, Mahapatra T, Biswas J. Ellis van creveld syndrome with unusual association of essential infantile esotropia. Oman J Ophthalmol [serial online] 2010 [cited 2022 May 27 ];3:23-25
Available from: https://www.ojoonline.org/article.asp?issn=0974-620X;year=2010;volume=3;issue=1;spage=23;epage=25;aulast=Das;type=0 |
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