height dwarfism
2010
Kniest dysplasia – Causes, Symptoms and Treatment
Kniest dysplasia is a disorder of bone growth. This condition is characterized by short stature (Dwarfism), enlarged joints and other skeletal abnormalities and problems with vision and hearing. People with this condition have short stature from birth, with a short trunk and short legs. Adult height ranges from 42 inches to 58 inches. scaling and joint pain restrict movement of the joints, which limits interferes with the activity and walking. These joint problems can also lead to arthritis. Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential normal development of bones and other connective tissues. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and therefore a variety dwarfing conditions known as skeletal dysplasias. The causes of Kniest dysplasia patients develop marked kyphosis or kyphoscoliosis and lumbar lordosis. X-rays reveal small tubular bones with flared ends, delayed epiphyseal development, and fragmented epiphyses, flat and square in his hands. Like swellings nodes Bouchards Heberdens nodes and can also be seen. pelvic abnormalities include short broad femoral necks, coxa vara marked contractures and hip. skeletal dysplasia is a heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. Their modes of inheritance are heterogeneous (ie, autosomal recessive autosomal dominant, X-linked recessive or X-linked dominant. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. Protein produced by this gene forms type II collagen, a molecule that is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules, which prevents the bones were properly conducted and that the signs and The symptoms of the disease. Symptoms of Kniest dysplasia Kniest dysplasia people have round, flat faces with widely spaced eyes and prominent. Some babies are born through an opening in the roof of the mouth (palate). Babies can also have breathing problems because of the weakness of the trachea. severe myopia (nearsightedness) is common, as are other eye problems that can lead to blindness. Hearing loss due to recurrent ear infections is also possible. Three women with dwarfism and skeletal defects characteristic of Kniest dysplasia are described. In two patients (two generations of a family) there are only defects skeletal. In the third patient are combined with other symptoms associated with tendons, sclera, the lens of the eye, retinal vessels and loss of hearing. This allows the conclusion of the genetic variations of the disease – as belonging to the structure and others where the inferiority of collagen is not limited the skeleton. Treatment of the surgical Kniest dysplasia, but about one eye will need to follow their favorable prognosis. The literature on vitreoretinal degeneration, as Wagner disease and Stickler syndrome may indicate the relationship of Kniest dysplasia-like illness. Since there may have different clinical course and visual prognosis in accordance with the original biosynthesis disorders, stress the importance of diagnosis of the orthopedic Vitreoretinal degeneration as constitutional bone diseases.
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