Spondylometaphyseal dysplasia type Koslowski

Koslowski spondylometaphyseal dysplasia is the most common form of spondylometaphyseal dysplasia manifesting mainly in vertebral bodies and metaphyses.

Clinically there is a disproportionated dwarfism with a short stem and a disturbed gait pattern. Patients reach a final size of less than 1.40m. The vertebral malformations cause kyphosis and scoliosis.

Spontylometaphyseal dysplasia type Koslowski is the most common spondylometaphyseal dysplasia, with manifestation predominantly in vertebral bodies and metaphyses. Clinically, there is a disproportionate dwarfism with a short trunk and a gestalt gait pattern. Patients reach a final size of less than 1.40m. The vertebral body malformations cause kyphosis and scoliosis.