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Congenital muscular torticollis is caused by idiopathic fibrosis of the sternocleidomastoid muscle that restricts movement and pulls the head toward the involved side. Deformation of the craniofacial skeleton will develop if the restriction is not released and result in aesthetic and functional problems. The purpose of this study was to use three-dimensional computed tomography imaging for qualitative and quantitative evaluation of the craniofacial deformity in a series of patients with uncorrected congenital muscular torticollis, and to assess age as a precipitating factor for severity of the deformity. A total of 14 patients from 1 month to 24 years of age were included. The skull images were rotated into standard orientation and reconfigured for evaluation of the cranium, endocranial base, and facial skeletal structures. The midlines of cranial base and facial bone, angle of midline deviation, width of each hemicranium and hemiface, and the orbital index were defined and measured. The results showed that the cranium and cranial base deformation took place as early as in infant stage, with the most prominent change occurring in the posterior cranial fossa. Facial bone asymmetry started to appear after 5 years of age, at which time the mandibular and occlusal abnormalities were observed. The deformity of the orbits and maxilla occurred at an older age, characterized by the deviation and decreased vertical height on the affected side. The severity of the observed deformities increased with age. The angle of midline deviation was 2.48 +/- 1.68 degrees in the cranial base and 3.26 +/- 3.28 degrees on the facial bone. Both of the midline deviations were significantly correlated with age. Compared with the contralateral side, the width of the ipsilateral posterior hemicranium was longer (54.36 +/- 6.72 mm versus 50.81 +/- 6.55 mm), and the width of the ipsilateral lower hemiface was shorter (35.30 +/- 7.27 mm versus 43.49 +/- 11.34 mm). Both differences were statistically significant. Measurement of the orbital index demonstrated a significantly flatter orbit on the ipsilateral side (89.48 +/- 0.11 versus 92.74 +/- 0.08). This study showed that the cranium and cranial base deformity occurred early in patients with uncorrected torticollis, while the facial bone deformity occurred in childhood stage. The cranial and facial deformity became more severe with age. Early release of the muscle restriction is advised to prevent craniofacial deformation.

Injection of BoNTA is an effective alternative for contouring of the lower facial profile by reducing the bulkiness of masseteric muscles. Its effectiveness was noticed as early as 2 weeks after injection and reached a peak effect in month 3. The facial contour gradually returned 6 months after injection. The reduction in bite force was temporary and caused no daily life interference.

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In therapeutic bone repairs, autologous bone grafts, conventional or vascularized allografts, and biocompatible artificial bone substitutes all have their shortcomings. The bone formed from peptides [recombinant human bone morphogenetic proteins (BMPs)], demineralized bone powder, or a combination of both is small in size. Tissue engineering may be an alternative for cranial bone repair. In this study, the authors developed an animal model to test the hypothesis that replication-defective, adenovirus-mediated human BMP-2 gene transfer to bone marrow stromal cells enhances the autologous bone formation for repairing a critical-size craniofacial defect. The mesenchymal stromal cells of miniature swine were separated from the iliac crest aspirate and expanded in monolayer culture 1 month before implantation. The cultured mesenchymal stromal cells were infected with recombinant, replication-defective human adenovirus BMP-2, 7 days before implantation. Bilateral 2 x 5-cm2 cranial defects were created, leaving no osteogenic periosteum and dura behind. Mesenchymal stromal cells at 5 x 10(7)/ml were mixed with collagen type I to form mesenchymal stromal cell/polymer constructs. Mesenchymal stromal cells used for the control site were infected with adenovirus beta-Gal under the same conditions. After 6 weeks and 3 months, 10 miniature swine were euthanized and the cranium repair was examined. Near-complete repair of the critical-size cranial defect by tissue-engineered mesenchymal stromal cell/collagen type I construct was observed. The new bone formation area (in square centimeters) measured by three-dimensional computed tomography demonstrated that the improvement from 6 weeks to 3 months was significantly greater on the experimental side than on the control side (2.15 cm2 versus 0.54 cm2, p < 0.001) and significantly greater at 3 months than at 6 weeks (2.13 cm2 versus 0.52 cm2, p < 0.001). The difference between the experimental and control groups was significant at 3 months (mean difference, 2.13 cm2; p < 0.001). The maximal compressive strength of the new bone was similar to that of the normal cranial bone when evaluated by biomechanical testing (cranium bone versus tissue-engineered bone, 88.646 +/- 5.121 MPa versus 80.536 +/- 19.302 MPa; p = 0.227). Adenovirus was absent from all constructs by immunochemical staining at 6 weeks and 3 months after implantation. The successful repair of cranial defects in this experiment demonstrates the efficacy of the integration of the autologous stem cell concept, gene medicine, and polymers in producing tissue-engineered bone.

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