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Kniest Dysplasia

  • Harold Chen
Living reference work entry

Abstract

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.

Keywords

Retinal Detachment Cleft Palate Proximal Epiphysis Stickler Syndrome Cleft Palate Repair 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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