The aim of this study was to evaluate the association of
contractures, fractures, and
deformities in four patients with Bruck syndrome treated in our facility. Data were collected from medical records, radiographs, dual-energy X-ray absorptiometry (DEXA) scans, genetic tests, and gait analysis. All had
contractures at birth and genotypic findings including mutations in PLOD2 or FPKB10. Three cases were treated with
bisphosphonates with improvement in bone density verified by DEXA. In Bruck syndrome, orthopedic
deformities include the following sequential aspects:
contractures, characterized by upper and lower extremity
contractures such as
clubfeet; fractures, characterized by multiple diaphyseal fractures in the long bones of the extremities; and
deformities, characterized by malalignment of extremities and the spine.
Physical therapy and bracing proved helpful for the
contractures to try to stop progression. Bone fragility needs to be considered when deciding to attempt cast correction. Surgeries in the soft tissues can be performed to retain joint movement. In fractures with angulation, intramedullary nail fixation was useful, and in cases without
deformity, casting alone was successful. We suggest monitoring the bone density with DEXA, nutrition support with
vitamin D and
calcium, and treatment with
bisphosphonates. Spine
deformities were successfully treated by
spinal fusion and instrumentation.