A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.

Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report on a 25-year-old male showing a spectrum of clinical manifestations fitting the OAVS diagnosis: hemifacial microsomia, asymmetric mandibular hypoplasia, preauricular pits and tags, unilateral absence of the auditory meatus, dysgenesis of the inner ear and unilateral microphthalmia. A SNP-array analysis identified a de novo previously unreported microduplication spanning 723 Kb on chromosome 3q29. This rearrangement was proximal to the 3q29 microdeletion/microduplication syndrome region, and encompassed nine genes including ATP13A3 and XXYLT1, which are involved in the organogenesis and regulation of the Notch pathway, respectively. The present observation further expands the spectrum of genomic rearrangements associated to OAVS, underlying the value of array-based studies in patients manifesting OAVS features.

Juvenile idiopathic/rheumatoid arthritis and orthognatic surgery without mandibular osteotomies in the remittent phase.

BACKGROUND: Orthognathic treatment of patients with juvenile idiopathic/rheumatoid arthritis is still controversial. Mandibular procedures may result in relapse and further condylar resorption and pain. Maxillary osteotomies and genioplasty may be effective for the correction of malocclusion and for aesthetics. PATIENTS AND METHODS: Five patients with juvenile idiopathic/rheumatoid arthritis with severe temporomandibular joint (TMJ) involvement underwent orthognathic surgery with a simultaneous Le Fort I osteotomy and advancement genioplasty. The age of the patients at the time of surgery ranged between 17 and 29 years (mean, 21.75 years). The patients were under follow-up for a minimum of 8 months after surgery, and measurements were performed using Dolphin 3D imaging. RESULTS: All 5 patients have an improved occlusion and improved facial aesthetics. The mean mandible rotation advancement was 5.6 mm (range, 4 to 7 mm). The mean posteroanterior face height ratio (S-Go/N-Me) after surgery was 63.9 (range, 62.9 to 65.8). No exacerbation of the juvenile rheumatoid arthritis was encountered as a result of the surgical procedure. CONCLUSIONS: Le Fort I osteotomy with impaction and advancement genioplasty are effective procedures for occlusal and aesthetic correction of juvenile idiopathic/rheumatoid patients. Mandibular procedures may evoke further condylar resorption with pain and functional impairment of the TMJ.

Le Fort III external midface distraction: surgical outcomes and skeletal stability.

A retrospective study on the stability of Le Fort III midface advancement with distraction in craniofacial dysostosis. Twenty-six surgical procedures for midface advancement were performed between 2000 and 2009. Subjects were 14 consecutive patients who underwent Le Fort III osteotomy with midface advancement using a rigid external distraction device (Synthes) in the Dep of Maxillo-Facial Surgery of the University "Sapienza" of Rome. In this study, 8 patients (n = 3 females, n = 5 males) affected by craniofacial dysostosis (Crouzon, n = 5; Apert, n = 3; Pfeiffer syndrome, n = 1; and other, n = 1) were selected on the basis of age and radiologic documentation. The mean age at the time of the procedure was 8.6 years, and all the patients had at least 1 year of follow-up after distraction.The radiologic documentation of each case was composed of posteroanterior and lateral cephalograms preoperatively (T1), at the time of removal of the distractor device (T2), and at follow-up (T3).The average latency period before activation of the distractor was 5 days. The device was activated on an average of 15 mm (range, 7-22 mm) as recorded on the device at a rate of 1 mm/d. Activation period ranged from 7 to 15 days, and the consolidation period was 8 to 12 weeks.Seven anatomic landmarks and 5 cephalometric measurements were identified on the lateral cephalograms at each of the 3 time periods. The cephalograms underwent digital analysis via Dolphin imaging digitalization software by 2 operators independently. The displacement of each identified landmark was recorded and examined in relation to their position at each time point.Cephalometric analysis revealed stability of Le Fort III midface advancement during follow-up. However, bone growth after midface advancement is limited, and as reported in the literature, almost no spontaneous growth is present because of the intrinsic nature of malformations. Patients treated in the growing age benefit from midface advancement, with resolution of exophthalmos, ocular bulb exposure, airway impairment, and good aesthetic outcome.

Orbital volume and surface after Le Fort III advancement in syndromic craniosynostosis.

There are no quantitative standards for the volumetric measurements of the orbital cavity after Le Fort III advancement. Computed tomography (CT) scan images have given the opportunity to compare with accuracy the real anatomic changes and potentially the functional improvements that resulted after a surgical treatment.Three-dimensional CT scan images processed by DICOM files in Dolphin 3D Software were used to assess orbital volume and surface in 12 subjects affected by craniofacial syndromic malformations treated with Le Fort III advancement. The preoperative (T0) and postoperative (T1: 6 months after surgery) three-dimensional craniofacial CT scans of the subjects were collected and retrospectively analyzed. Image segmentation of the anatomic orbital cavity and the three-dimensional graphic rendering were done by using the Dolphin Imaging Plus 11.0 software.The orbital volume was increased after surgery, with statistical significance, from 22,267 to 22,706.3 mm(3) in the right eye and from 26,511 mm(3) to 26,256.4 mm(3) in the left eye. The surface of both bony orbits had an expansion, which is statistically significant. In conclusion, this study showed that the orbital advancement in white subjects after Le Fort III advancement was significant and produced a significant augmentation of the orbital volume and surface area with correction of the ocular bulb proptosis.

Condylar volume and surface in Caucasian young adult subjects.

BACKGROUND: There have been no quantitative standards for volumetric and surface measurements of the mandibular condyle in Caucasian population. However, the recently developed cone-beam computed tomography (CBCT) system allows measurement of these parameters with high accuracy. METHODS: CBCT was used to measure the condylar volume, surface and the volume to surface ratio, called the Morphometric Index (MI), of 300 temporo-mandibular joints (TMJ) in 150 Caucasian young adult subjects, with varied malocclusions, without pain or dysfunction of TMJs. RESULTS: The condylar volume was 691.26 ± 54.52 mm3 in males and 669.65 ± 58.80 mm3 in, and was significantly higher (p< 0.001) in the males. The same was observed for the condylar surface, although without statistical significance (406.02 ± 55.22 mm2 in males and 394.77 ± 60.73 mm2 in females).Furthermore, the condylar volume (693.61 ± 62.82 mm3 ) in the right TMJ was significantly higher than in the left (666.99 ± 48.67 mm3, p < 0.001) as was the condylar surface (411.24 ± 57.99 mm2 in the right TMJ and 389.41 ± 56.63 mm2 in the left TMJ; t = 3.29; p < 0.01). The MI is 1.72 ± 0.17 for the whole sample, with no significant difference between males and females or the right and left sides. CONCLUSION: These data from temporomandibular joints of patients without pain or clinical dysfunction might serve as examples of normal TMJ's in the general population not seeking orthodontic care.

Three-dimensional temporomandibular joint modeling and animation.

The three-dimensional (3D) temporomandibular joint (TMJ) model derives from a study of the cranium by 3D virtual reality and mandibular function animation. The starting point of the project is high-fidelity digital acquisition of a human dry skull. The cooperation between the maxillofacial surgeon and the cartoonist enables the reconstruction of the fibroconnective components of the TMJ that are the keystone for comprehension of the anatomic and functional features of the mandible. The skeletal model is customized with the apposition of the temporomandibular ligament, the articular disk, the retrodiskal tissue, and the medial and the lateral ligament of the disk. The simulation of TMJ movement is the result of the integration of up-to-date data on the biomechanical restrictions. The 3D TMJ model is an easy-to-use application that may be run on a personal computer for the study of the TMJ and its biomechanics.

Retrospective analysis of 301 patients with orbital floor fracture.

The purpose of this study was to retrospectively analyse patients with orbital floor fracture who were treated at the Department of Odontostomatology and Maxillofacial Surgery, Policlinico Umberto I, Sapienza University of Rome, Italy, between 2008 and 2013. Patients were evaluated by age, sex, aetiology, clinical findings, fracture pattern, ocular injury, treatment, complications, and sequelae. We evaluated surgical outcomes and complications with the use of different surgical approaches and various materials used to reconstruct the orbital floor. In total, there were 301 orbital fractures. Two hundred and seventeen patients were men (72.1%) and 84 were women (27.9%). The average age of the patients was 37.2 years (range, 9-90 years). The leading cause of these fractures was violent assault (27.3%). Pure blow-out fractures (50.2%) were the most represented pattern, followed by zygomatic complex (46.5%). The most common symptom was hypoesthesia extending through the territory of the second trigeminal branch (TBH; 32.9%). Diplopia was present in 20.2% of patients followed by enophthalmos (2.3%) and extraocular movement limitation (1.7%). Ocular symptoms significantly improved following surgical repair. The most common postoperative complications included TBH in 34.2%, scarring 26%, and diplopia in 16.4% of the patients.

Surgical timing of craniosynostosis: what to do and when.

Craniosynostosis, both isolated and syndromic, are challenging malformations for the craniofacial team. They present the team with an articulated cascade of choices, which need to be addressed early in life and in the growing age to intercept, remove, or correct the direct and indirect consequences of the malformation. Timing of treatment is thus critical and it stands on the experience of a multi-specialty trained craniofacial team. In this paper the authors discuss the timing of treatment of the major craniosynostosis, isolated and syndromic, reviewing the options for treatment and their experience in this complex field.

Metastatic uterine leiomyosarcoma in the upper buccal gingiva misdiagnosed as an epulis.

Uterine leiomyosarcoma (LMS) is a rare tumor constituting 1% of all uterine malignancies. This sarcoma demonstrates an aggressive growth pattern with an high rate of recurrence with hematologic dissemination; the most common sites are lung, liver, and peritoneal cavity, head and neck district being rarely interested. Only other four cases of metastasis in the oral cavity have been previously described. The treatment of choice is surgery and the use of adjuvant chemotherapy and radiation has limited impact on clinical outcome. In case of metastases, surgical excision can be performed considering extent of disease, number and type of distant lesions, disease free interval from the initial diagnosis to the time of metastases, and expected life span. We illustrate a case of uterine LMS metastasis in the upper buccal gingiva that occurred during chemotherapy in a 63-year-old woman that underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy for a diagnosis of LMS staged as pT2bN0 and that developed lung metastases eight months after primary treatment. Surgical excision of the oral mass (previously misdiagnosed as epulis at a dental center) and contemporary reconstruction with pedicled temporalis muscle flap was performed in order to improve quality of life. Even if resection was achieved in free margins, "local" relapse was observed 5 months after surgery.