Ellis van creveld syndrome with unusual association of essential infantile esotropia
| Autor: | T.K.S Mahapatra, Dipankar Das, G Das, J Biswas |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Postaxial polydactyly
Dental anomalies medicine.medical_specialty Pediatrics Nail dysplasia business.industry essential infantile esotropia Case Report disproportionate dwarfism medicine.disease Early life Surgery Essential infantile esotropia Disproportionate dwarfism Ophthalmology lcsh:Ophthalmology lcsh:RE1-994 Cardiac defects medicine hypoplastic nails business Ellis–van Creveld syndrome |
| Zdroj: | Oman Journal of Ophthalmology, Vol 3, Iss 1, Pp 23-25 (2010) Oman Journal of Ophthalmology |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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