Parastremmatic Dwarfism

A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Epidemiology

Only 5 cases have been described to date.

Clinical description

Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture.

Etiology

The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).