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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. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. 

 
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. In addition, each feature of this syndrome may vary from subtle to severe. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. 

 
Stickler syndrome

 PED was used in >180 patients in Argentina under clinical investigation. Clinical experience in the first 53 cases (mean age 55.2 years, 48 women) has been published. Treated IAs in these 53 were in both the anterior and posterior circulation and nearly half (48%) were large or giant. A total of 72 PEDs were used, with 1 PED in 44 IAs, 2 in 17 IAs and 3 in 2 IAs.

 

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