الملخص
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.
الكلمات المفتاحية
بيانات النشر
- المعرّف الرقمي
- 10.4103/0974-620x.60017
- المجلة
- المجلة العُمانية لطب العيون, 3(1), 23-25
- الناشر
- منشورات ميدنو
- وصول مفتوح
- وصول مفتوح ذهبي
اقتبس هذه المقالة
APA 7
Das, D., Das, G., Mahapatra, T. K. S., & Biswas, J. (2010). Ellis van Creveld syndrome with unusual association of essential infantile esotropia. Oman Journal of Ophthalmology, 3(1), 23-25. https://doi.org/10.4103/0974-620x.60017
MLA 9
Das, D, et al. "Ellis van Creveld syndrome with unusual association of essential infantile esotropia." Oman Journal of Ophthalmology, vol. 3, no. 1, 2010, pp. 23-25. https://doi.org/10.4103/0974-620x.60017.
شيكاغو (المؤلف–التاريخ)
Das, D, G Das, T K S Mahapatra, and J Biswas. 2010. "Ellis van Creveld syndrome with unusual association of essential infantile esotropia." Oman Journal of Ophthalmology 3 (1): 23-25. https://doi.org/10.4103/0974-620x.60017.
هارفارد
Das, D., Das, G., Mahapatra, T. K. S. and Biswas, J. (2010) 'Ellis van Creveld syndrome with unusual association of essential infantile esotropia', Oman Journal of Ophthalmology, 3(1), pp. 23-25. doi:10.4103/0974-620x.60017.
فانكوفر
Das D, Das G, Mahapatra TKS, Biswas J. Ellis van Creveld syndrome with unusual association of essential infantile esotropia. Oman Journal of Ophthalmology. 2010;3(1):23-25. doi:10.4103/0974-620x.60017
IEEE
D. Das, G. Das, T. K. S. Mahapatra, and J. Biswas, "Ellis van Creveld syndrome with unusual association of essential infantile esotropia," Oman Journal of Ophthalmology, vol. 3, no. 1, pp. 23-25, 2010, doi: 10.4103/0974-620x.60017.