KNIEST DYSPLASIA

Summarized by Plex Health
Last Updated: 09 May 2022
kniest dysplasia: new radiographic features in the skeleton. "kniest dysplasia: new radiographic features in the skeleton.", by Maldjian C, Chew FS, Klein R, Bonakdarpour A, McCarthy J, Kelly J. fig4: Kniest dysplasia, Case 4. PA radiograph of the right hand at the age of 5 years demonstrates similar findings to Case 3; however, the carpus has a more organized appearance, because, with age, the...

Kniest dysplasia is just one of several forms of dwarfism that is triggered by a change in a gene called COL2A1. Changes in the structure of type 2 collagen lead to abnormal skeletal growth and, therefore, to a variety of dwarfing problems referred to as skeletal dysplasias. People with Kniest dysplasia are recognized to have an abnormally brief stature; short, warped limbs; a chest that is abnormally short and barrel-shaped; and a fairly lengthy trunk. People with Kniest dysplasia have uncommonly flat face with extending eyes, and a low nasal bridge. A cleft palate may also be present, and speech impairment may occur. Contracted hips might cause strolling troubles and there might be a hereditary flattening of the vertebrae and a bulge of the back. One variant of Kniest dysplasia that is incredibly rare is referred to as Kniest-like dysplasia with pursed lips and ectopia lentis or Burton disease.

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