Sindrome de stickler pdf

Las personas con tipo ii tienen sordera moderada a severa y equilibrio normal. These signs and symptoms vary widely among affected individuals. A characteristic feature of stickler syndrome is a somewhat flattened facial appearance. 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. Links to pubmed are also available for selected references. This appearance results from underdeveloped bones in the middle of the face. Get a printable copy pdf file of the complete article 2. Full text full text is available as a scanned copy of the original print version. Association for the diffusion and knowledge of stickler syndrome. 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. The stickler syndrome was first described in 1965 by gunnar stickler. This genetic disorder can cause serious vision, hearing and joint problems. Stickler syndrome associated with congenital glaucoma. Case report of an 11yearold boy who attends primary healthcare.

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment. Children may be born with a cleft palate and distinctive facial. She was born of a nonconsanguineous marriage with no signi. 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. Pdf stickler syndrome is a relatively rare condition caused by a defective collagen gene, it is an autosomaldominant inherited disorder of. 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 group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems.