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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. A particular group of physical features, called Pierre Robin sequence, is also common in people with Stickler syndrome. Robin sequence includes an opening in the roof of the mouth, a tongue that is placed further back than normal, and a small lower jaw. This combination of features can lead to feeding problems and difficulty breathing. There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. 

 
Stickler syndrome

There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome. Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. Children with a cleft palate are also prone to ear infections and occasionally swallowing difficulties.

 
Stickler syndrome

 Postoperative pain was relatively common during the first hours after surgery, as it was reported by 67 (34%) patients. After hospital discharge, the prevalence decreased; at 24 hours, 1 week, and 6 weeks, 18 (10%), 15 (9%) and 12 (7%) patients reported having ocular pain.

 

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