alexa Stickler syndrome | Belgium| PDF | PPT| Case Reports | Symptoms | Treatment

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Stickler Syndrome

  • 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. 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. 

  • 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. 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

    Belgium 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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