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Kniest dysplasia

Dr MT Niknejad and Dr Yuranga Weerakkody et al.

Kniest dysplasia is rare type of short limbed skeletal dysplasia.

Pathology

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).

Radiographic features

General

Described features include

unossified epiphyses
absent ossification of the pubic bones
delayed ossification of the femoral heads
flatted ovoid vertebral bodies + / - coronal clefts
dumbell shaped femurs
short limbs - micromelia
exaggerated metaphyseal flaring

Etymology

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

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