Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.

Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. Hypophosphatasia (HPP) is a dominant or recessive inherited condition representing a heterogeneous phenotype with dental symptoms, recurrent fractures, and musculoskeletal problems. The disease results from mutation(s) in the tissue non-specific alkaline phosphate encoding gene with reduced activity of alkaline phosphatase and secondarily defective mineralization of bone and teeth. Here, we present the first report of a patient with the coexistence of PYCD and HPP. This patient presented typical clinical findings of PYCD, including short stature, maxillary hypoplasia, and sleep apnoea. However, the burden of disease was caused by over 30 fractures, whereupon most showed delayed healing and non-union. Biochemical analysis revealed suppressed bone resorption and low bone formation capacity. We suggest that the coexistence of impaired bone resorption and mineralization may explain the severe bone phenotype with poor fracture healing.

Transverse displacement of the proximal segment after bilateral sagittal osteotomy: a comparison of lag screw fixation versus miniplates with monocortical screw technique.

PURPOSE: The purpose of the present study was to compare lag screw fixation versus miniplates with monocortical screw technique with respect to the amount of transverse displacement of the proximal segment after bilateral sagittal osteotomy (BSO) for mandibular advancement surgery. PATIENTS AND METHODS: We conducted a multicenter, retrospective investigation of 82 patients who underwent a mandibular advancement with BSO and rigid internal fixation. Forty-five patients from Denmark and Sweden, the miniplate fixation group, received a rigid fixation consisting of miniplates with monocortical screws. Thirty-seven patients from the Mayo Clinic, the lag screw fixation group, received a rigid fixation with lag screw fixation of the mandible. The transverse displacement and angulation of the proximal segments were measured on posterior-anterior cephalometric radiographs, using the best-fit method. RESULTS: After BSO, 44 of 45 patients in the miniplate fixation group showed an increased transverse intergonion distance with a mean of 5.0 mm and an increase transverse interramus width with a mean of 2.4 mm. Thirty-six of 37 patients in the lag screw fixation group had an increased intergonial width with a mean of 5.6 mm, and 35 of 37 patients showed an increased transverse interramus width with a mean of 3.3 mm. t tests showed that there were no significant differences between the 2 groups with respect to these 2 variables. CONCLUSIONS: Our results indicate that transverse displacements of the proximal segments occur after BSO surgery with both miniplate or lag screw fixation technique. Attention and future studies should focus on possible complications that transverse displacement of the proximal segment may cause.