Diastrophicdysplasia in a seven-year-old girl.
Case report Anna Szczepaniak-Kubat, Maciej Tęsiorowski, Zofia Merc-Gołębiowska, Elżbieta Jakubowska-Pietkiewicz Ortop Traumatol Rehabil 2010; 12(3):257-263 ICID: 914651
Article type: Case report
IC™ Value: 4.54
Abstract provided by Publisher
Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacar pal modelling and socalled hitchhi ker thumbs. The condition is progressive and leads to considerable physical disability. It continu es to constitute a challenge for doctors as the outcomes of corrective or thopa edic 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 com pression of the spinal cord and carotid ar te ries. We describe
deformities of the motor or gans present in the patient and characteristic of dia strophic dysplasia, and the findings of specialised acces sory 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 im paired so mtic development.