Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.

The need to provide rigid bony fixation in the surgical treatment of craniofacial deformities has inspired an on-going evolution of surgical innovations and implants. Because of the young age of many treated craniosynostosis patients and the unique pattern of cranial vault growth, the extensive implantation of metal devices is potentially problematic. The use of resorbable plate and screw devices offers all of the benefits of rigid fixation without many of their potential risks. Since the introduction of resorbable plate and screw devices in 1996, tens of thousands of craniofacial patients have received implants, but long-term results from a large series have yet to be reported. A combined prospective and retrospective analysis was done on 1883 craniosynostosis patients under 2 years of age treated by 12 surgeons from seven different geographic locations over a 5-year period who used the same type of resorbable bone fixation devices (poly-L-lacticpolyglycolic copolymer). Specifically, the incidence of postoperative infection, fixation device failure, occurrence of delayed foreign-body reactions, and the need for reoperation resulting from device-related problems were determined. Technical difficulties and trends in device use were also noted. From this series, significant infectious complications occurred in 0.2 percent, device instability primarily resulting from postoperative trauma occurred in 0.3 percent, and self-limiting local foreign-body reactions occurred in 0.7 percent of the treated patients. The overall reoperation rate attributable to identifiable device-related problems was 0.3 percent. Improved bony stability was gained by using the longest plate geometries/configurations possible and bone grafting any significant gaps across plated areas that were structurally important. The specific types of plates and screws used evolved over the study period from simple plates, meshes, and threaded screws to application-specific plates and threadless push screws whose use varied among the involved surgeons. This report documents the safety and long-term value of the use of resorbable (LactoSorb) plate and screw fixation in pediatric craniofacial surgery in the infant and young child. Device-related complications requiring reoperation occurred in less than 0.5 percent of the implanted patients, which is less frequent than is reported for metallic bone fixation. Resorbable bone fixation for the rapidly growing cranial vault has fewer potential complications than the traditional use of metal plates, screws, and wires.

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Rebuilding atrophied alveolar ridges can present a significant challenge for the maxillofacial surgeons. A multitude of treatment options including guided bone regeneration, onlay block grafting, and distraction osteogenesis are today available as safe procedures. The recent Food and Drug Administration approval of recombinant human bone morphogenetic proteins (rhBMPs) has given clinicians an added treatment option for reconstructing localized and large jaw defects. Currently, several patients have been successfully treated with the combination of bone graft and rhBMP-2 and the results have been documented as predictable and safe by clinical and radiologic examinations follow-up. In this study, a literature review was conducted using Medline, Medpilot, and Cochrane Database of Systematic Reviews. It was concentrated on manuscripts and overviews published in the last 20 years (2000–2020). The key terms employed were platelet-rich plasma, rhBMPs, and their combinations with the common scaffolds used for bone regeneration techniques. The results of clinical studies and animal trials were especially emphasized. The statements from the literature were compared with authors’ own clinical data. The potential to reconstruct these large bone defects with a growth factor thus limiting or even avoiding a secondary harvest site is exciting and it represents a new frontier in the field of surgery. This study data confirm how there are excellent documents about the possible combination of using substitute materials and growth factor for treating large and minor craniofacial bone defects.

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Dorsal nasal augmentation is commonly performed for various aesthetic deficiencies and/or reconstructive defects such as the saddle nose deformity. However, the optimal technique for volume augmentation has yet to be identified. The senior author (F.P.) has since developed a new modified technique using wrapped diced cartilage within an AlloDerm. This novel construct provides the plastic surgeon a smooth, convenient, pliable option with similar operative times as compared with other popular techniques. In summary, this technique has been proven to be successful in achieving attractive, safe, and acceptable outcomes in nasal dorsal configuration and overall patient satisfaction.

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