Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs. The condition is progressive and leads to considerable physical disability. It continues to constitute a challenge for doctors as the outcomes of corrective orthopaedic surgery are limited. The aim of this paper is to present the course of diastrophic dysplasia in a 7-year-old girl who also experienced cervical spine luxation with signs of compression of the spinal cord and carotid arteries. We describe deformities of the motor organs present in the patient and characteristic of diastrophic dysplasia, and the findings of specialised accessory investigations. The example of evaluation for bone disorders is used to draw attention to the principles of interpretation of densitometry measurements in a patient with impaired somatic development.