Spondylometaphyseal Dysplasia, 'corner Fracture' Type

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Epidemiology

Less than 30 patients have been reported in the literature.

Clinical description

Tetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome.

Etiology

Currently, there are no human genes associated with the disease.

Genetic counseling

Autosomal dominant inheritance has been suggested.