A characteristic feature of stickler syndrome is a somewhat flattened facial appearance. 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. This appearance results from underdeveloped bones in the middle of the face. Children may be born with a cleft palate and distinctive facial. Stickler syndrome associated with congenital glaucoma bhamy hariprasad shenoy, anil kumar mandal in may, 2011, a 1monthold baby girl was referred to our centre for management of congenital corneal opacity. Cursa con manifestaciones oculares, craneofaciales, audiologicas y articulares. Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. Links to pubmed are also available for selected references. Las personas con tipo ii tienen sordera moderada a severa y equilibrio normal. 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. Association for the diffusion and knowledge of stickler syndrome. These signs and symptoms vary widely among affected individuals. This genetic disorder can cause serious vision, hearing and joint problems.
She was born of a nonconsanguineous marriage with no signi. The stickler syndrome was first described in 1965 by gunnar stickler. Get a printable copy pdf file of the complete article 2. Case report of an 11yearold boy who attends primary healthcare.
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