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.
KeywordsRetinal Detachment Cleft Palate Proximal Epiphysis Stickler Syndrome Cleft Palate Repair
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