Kniest dysplasia

Dr Henry Knipe and Dr Yuranga Weerakkody et al.

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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