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.
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.
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