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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

 With the exception of SCH, the ophthalmic examination was normal in all patients. Identified risk factors include history of systemic hypertension (21 patients [60%], mean systolic value: 170 mmHg±15 mmHg), strenuous exercise [19 patients (54%)] and minor ocular trauma [5 patients (14%)]. Other risk factors [each in 2 patients (6%)

 

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