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Stickler Syndrome

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Stickler syndrome

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. It is a sex independent autosomal dominant trait meaning a person with the syndrome has a 50% chance of passing it on to each child. There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. 

 
Stickler syndrome

 Many professionals that are likely to be involved in the treatment of those with Stickler's syndrome, include oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, audiologists and rheumatologists. In the control group, 19 (28.8%) eyes showed grade 0, 13 (19.7%) eyes had grade 1, and grades 2 and 3 were present in 20 (30.3%) eyes and 14 (21.2%) eyes, respectively. Chi-square test showed a highly significant difference between the two groups (P.001). Major research is going on arthro-ophthalmopathy and genetic disorder research centers.

 

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