A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kniest dysplasia. If you have problems viewing pdf files, download the latest version of adobe reader. The col2a1 gene is responsible for producing type ii collagen. The prenatal sonographic features of kniest syndrome. The mutation of col2a1 gene leads to abnormal skeletal growth and problems with hearing and vision. Esta e uma desordem genetica extremamente rara e sua incidencia exata nao e conhecida. If you continue browsing the site, you agree to the use of cookies on this website. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Kniest syndrome dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. Kniest dysplasia is a rare form of dwarfism caused by a mutation in the col2a1 gene on chromosome 12. Kniest dysplasia genetic and rare diseases information.
It is one of a spectrum of skeletal disorders caused by mutations in the col2a1 gene. Article information, pdf download for orthodontic treatment in a patient with kniest. Kniest dysplasia is a disorder of bone growth characterized by short stature dwarfism with other skeletal abnormalities and problems with vision and hearing. Erika hdez sanabria slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Orthodontic treatment in a patient with kniest dysplasia. Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is. The kniest syndrome is a newly defined chondrodystrophy consisting of disproportionate dwarfism with kyphoscoliosis, flat facies with prominent eyes, myopia. Kniest dysplasia genetic and rare diseases information center. Pdf kniest dysplasia in a girl aged 6 years researchgate. You will be redirected to the full text document in the repository in a few seconds, if not click here.
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