A surgical navigated cutting guide for mandibular osteotomies: accuracy and reproducibility of an image-guided mandibular osteotomy.

PURPOSE: 3D-printed cutting guides are the current standard to translate the virtual surgery plan to the intraoperative setting. The production of these patient-specific cutting guides is time-consuming and costly, and therefore, alternative approaches are currently subject of research. The aim of this study was to assess the accuracy and reproducibility of using a novel electromagnetic (EM) navigated surgical cutting guide to perform virtually planned osteotomies in mandible models. METHODS: A novel 3D navigated cutting guide (dubbed Bladerunner) was designed and evaluated with a total of 20 osteotomies, performed on plaster mandibular models according to preoperative planning using EM navigation. The pre- and postoperative scans were registered, and the difference between the preoperatively planned osteotomy and the performed osteotomy was expressed as the distance between the planned and performed cutting planes, and the yaw and roll angles between the planes. RESULTS: The mean difference in distance between the planned osteotomy and performed osteotomy was 1.1 mm (STD 0.6 mm), the mean yaw was 1.8° (STD 1.4°), and mean roll was 1.6° (STD 1.3°). CONCLUSION: The proposed EM navigated cutting guide for mandibular osteotomies demonstrated accurate positioning of the cutting plane according to the preoperative virtual surgical plan with respect to distance, yaw and roll angles. This novel approach has the potential to make the use of 3D-printed cutting guides obsolete, thereby decreasing the interval between diagnosis and surgery, reduce cost and allow for adaptation of the virtual plan in case of rapid tumor proliferation or unanticipated in situ deviations from the preoperative CT/MR imaging.

Bloom syndrome does not always present with sun-sensitive facial erythema.

Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients. It has been previously reported that in some individuals with Bloom syndrome these sun-sensitive lesions are less prominent or even absent. In this report we describe a 36 year old woman with short stature, microcephaly, several dysmorphisms, congenital hypothyroidism and premature ovarian failure. She was diagnosed with nasopharyngeal carcinoma at 36 years of age, only a few months after her consultation at the department of Clinical Genetics. Whole Exome Sequencing demonstrated that she had Bloom syndrome caused by a compound heterozygous mutation in BLM (c.2207_2212delinsTAGATTC; p.(Tyr736Leufs*5) and c.3681del; p.(Lys1227Asnfs*52)). She did not have facial sun-sensitive erythematous rash during childhood nor adulthood. We conclude that Bloom syndrome does not always present with erythematous sun-sensitive skin lesions of the face. We would like to underline that phenotypic variation regarding this "hallmark" feature of Bloom syndrome exists. Being aware of this might prevent a delay in diagnosing this rare short-stature syndrome and, subsequently, its potential clinical implications.

Retroauricular endoscopic and robotic versus conventional neck dissection for oral cancer.

There has been a significant increase in concern towards improving aesthetic and functional outcomes without compromising the oncologic effectiveness in head and neck surgery. The aim of the current study is to assess the feasibility and oncological outcome of the retroauricular approach for endoscopic and robot-assisted selective neck dissection (SND) for oral cancer in comparison with the conventional SND. A retrospective single institute cohort study was designed. Patients undergoing an SND for oral cavity carcinoma were included and allocated into two groups: (1) retroauricular approach group for endoscopic-assisted or robot-assisted SND or (2) transcervical approach group for the conventional SND. Primary endpoint was the perioperative and postoperative treatment outcomes. Secondary endpoint was the early oncologic outcome. Sixty patients were included (17 retroauricular; 43 conventional). For the primary outcome, only a significant longer operative time in the retroauricular group was identified. No unintentional injury or conversion to the conventional surgery was recorded. There was no significant difference identified in the early oncologic outcome, including number of retrieved lymph nodes and disease-free survival. Postoperative aesthetic results were considered superior when subjectively compared to the conventional approaches. Endoscopic and robot-assisted SND via a retroauricular approach is feasible, safe, and oncologically efficient when compared with the conventional surgery in a short follow-up scenario. It can be used for selected cases with a clear cosmetic benefit. However, further research with longer follow-up and patient satisfaction analysis is mandatory.

Pharmacological and surgical therapy for the central giant cell granuloma: A long-term retrospective cohort study.

PURPOSE: This is a retrospective cohort study of patients with a central giant cell granuloma (CGCG) treated at a single center to assess and compare the different surgical and non-surgical approaches. MATERIAL AND METHODS: A cohort with a single histologically proven non-syndrome-related CGCG was selected and reviewed. Patients were allocated to group I (surgery), group II (pharmacotherapy), and group III (pharmacotherapy and surgery). The primary outcome was long-term radiologic response using computed tomography. Secondary outcomes were intermediate radiologic responses and occurrence and severity of side effects. RESULTS: Thirty-three subjects were included in the study. The surgical group (n = 4) included 1 patient with progression during follow-up and a relatively high post-surgical morbidity. Twenty-nine patients started on various pharmacological treatment regimens (groups II and III). Fourteen patients could be managed without additional surgery. One of these lesions showed progression during follow-up. The other 15 lesions underwent additional surgery, and none showed progression during follow-up. Interferon treatment was associated with the most side effects. CONCLUSION: Pharmacological agents have a role in the treatment of aggressive and non-aggressive CGCGs by limiting the renewed progression during long-term follow up and the extent and morbidity of surgical treatment.

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.

Cephalometric analysis of craniofacial morphology and growth in unrepaired isolated cleft palate patients.

OBJECTIVE: The aim of this study is to analyze the craniofacial morphology in patients with unrepaired isolated cleft palate (UICP) at childhood, adolescence and adulthood, in order to assess the influence of nonsurgical factors on the craniofacial growth in these patients. MATERIAL AND METHODS: Lateral and posteroanterior cephalograms of 106 non-syndromic UICP patients and 102 normal matched controls were obtained and analyzed. Patients and controls were divided into three subgroups: children (5-7 years), adolescents (12-14 years), and adults (>18 years). RESULTS: UICP patients in childhood showed a shortened cranial basal length; reduced bony nasopharyngeal height; short maxillary depth and height with a posterior positioned maxilla and an increased width of the nasal cavity, maxilla and orbit; and a shortened mandibular length and height. UICP patients in adulthood showed a normal nasopharyngeal and mandibular morphology. However, the patients in this subgroup still showed a shortened cranial basal length, and short maxillary depth and anterior height with increased width of the nasal cavity, maxilla and orbit. CONCLUSIONS: Craniofacial morphology and growth in patients with UICP were significantly affected by nonsurgical factors. Growth of the cranial base and upper face were absolutely reduced, while growth of the bony nasopharynx and mandible were only postponed.