Cursa con manifestaciones oculares, craneofaciales, audiologicas y articulares. The symptoms of stickler syndrome may vary but include nearsightedness, retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. She was born of a nonconsanguineous marriage with no signi. Las personas con tipo ii tienen sordera moderada a severa y equilibrio normal. Stickler syndrome associated with congenital glaucoma.
The stickler syndrome was first described in 1965 by gunnar stickler. Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment. Sticklers syndrome is an inherited connective tissue disorder resulting from a mutation, usually autosomaldominant, in one of the 4 genes that encode collagen 2, 9 and 11 synthesis. Get a printable copy pdf file of the complete article 2. Children may be born with a cleft palate and distinctive facial. Case report of an 11yearold boy who attends primary healthcare.
Links to pubmed are also available for selected references. A characteristic feature of stickler syndrome is a somewhat flattened facial appearance. Pdf stickler syndrome is a relatively rare condition caused by a defective collagen gene, it is an autosomaldominant inherited disorder of. These signs and symptoms vary widely among affected individuals. Stickler syndrome genetic and rare diseases information. This appearance results from underdeveloped bones in the middle of the face.