Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

OBJECTIVE

Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders known as osteochondrodysplasias. These genetic disorders arise through disturbances in the complex processes of skeletal growth causing development of unsightly skeletal deformities.

METHODS

Each syndrome was diagnosed on the basis of detailed clinical and radiographic assessment. Lower limb deformities were the prime presenting feature.

RESULTS

Here are presented three patients with diverse genetic syndromes, namely Wolcott-Rallison syndrome (WRS), Kniest dysplasia (KD) and Desbuquois dysplasia (DS). Genetic testing was performed in the patients with WRS and DS. The diagnosis of KD was made purely on a clinical and radiographic basis. Variable orthopaedic interventions to realign these patients' lower limbs were implemented with the aim of improving their balance and gait.

CONCLUSIONS

The aim of this paper is twofold. The first part is to outline the importance of diagnosing the causes of various skeletal abnormalities in patients with osteochondrodysplasias by phenotypic and genotypic characterization. The second part is to demonstrate our techniques for surgical corrections in patients with joint laxity and malalignment and show how far techniques for growth modulation, re-alignment and ligament reconstruction have advanced.