Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report.

INTRODUCTION

The rare Nievergelt syndrome (NS) is the most severe form of mesomelic dysplasia and is characterized by disproportionate shortness of the limbs. The aim of this case report was to describe the clinical and radiological features of a rare case of NS.

PRESENTATION OF CASE: Here we describe a female patient originally presenting with bilateral hand, lower leg, and foot deformities at the age of 10 years old. In addition to the characteristic features of NS, this patient presented with finger-like projections on her heels, bilateral hand anomalies, and atypical facial features. She underwent concomitant bilateral tibial lengthening and deformity correction using external fixators due to severe bilateral lower leg deformities with shortness. At 10 years of age, this patient was able to walk independently with significant improvement in her ambulation.

DISCUSSION: There is a clear gap in the literature regarding the orthopedic management of mesomelic limb deformities due to NS. No studies have been designed to illustrate surgical planning in the management of orthopedic deformities in this rare syndrome.

CONCLUSION

Limb lengthening and deformity correction using an external fixator can be considered as a salvage method or alternative to amputation for patients with severe mesomelic limb deformities due to NS.