In 1952, Kniest (1952) described an unusual form of disproportional dwarfism, called “atypical chondrodystrophy.” Kniest dysplasia is a type II collagenopathy with characteristic clinical, radiographic, and histological findings. Kniest dysplasia is distinguished by platyspondyly and delay in ossification of the proximal epiphyses. After ossification, the epiphyses are enlarged resulting in dumbbell-shaped long bones.
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- Barat-Houari, M., Dumont, B., Fabre, A., et al. (2015). The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype. European Journal of Human Genetics, 2015 December 2. [Epub ahead of print]Google Scholar
- Spranger, J. W., & Maroteaux, P. (1974). Kniest disease. Birth Defects Original Article Series, X(12), 50–56.Google Scholar