Stickler’s syndrome

Author: 
Hemavathy V., Binipaul V.J and Jannet Susannal

Stickler syndrome is a genetic disorder with characteristic ophthalmological and orofacial features, deafness and arthritis. Abnormalities of vitreous gel found within the eyes. The cause of stickler’s syndrome is COL2A1 and COL11A1. The estimated prevalence rate is 1-3 per 10,000 births and at 1 per 7,500 birth Signs and symptoms is eye problem hearing deficit, joint and bone deformity. The treatment of stickler syndrome is therapy like speech, physical, hearing aids and special education, preventive measures stickler syndrome is genetic counselling and prophylactic peripheral retinal cryotherapy.

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DOI: 
http://dx.doi.org/10.24327/ijcar.2018.15960.2928
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