Ellis van Creveld syndrome with unusual association of essential infantile esotropia
Oman Journal of Ophthalmology. 2010; 3 (1): 23-25
in English
| IMEMR
| ID: emr-93391
ABSTRACT
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 Elis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Ellis-Van Creveld Syndrome
/
Esotropia
/
Polydactyly
Type of study:
Case report
Limits:
Female
/
Humans
/
Infant
Language:
English
Journal:
Oman J. Ophthalmol.
Year:
2010
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