parastremmatic dwarfism

parastremmatic dwarfism

A rare autosomal dominant bone dysplasia (OMIM:168400) characterised by severe dwarfism, kyphoscoliosis, bowing of extremities and contractures of large joints. Heart, eyes and intelligence are normal.

Imaging
Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses.
 
Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel that is thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.
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