Kniest dysplasia

Kniest dysplasia is rare type of short limbed skeletal dysplasia.

Genetics

It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen (therefore classified as a type II collegenopathy).

General

Described features include

It is named after  Wilhelm Kniest, German paediatrician who first described the condition in 1952 4,8.

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Article information

rID: 15842
Section: Pathology
Tag: cases
Synonyms or Alternate Spellings:
  • Kniest's dysplasia

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Cases and figures

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    Case 1: calvarium
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