Maria Teresa Fadda

Craniomaxillofacial fibrous dysplasia: conservative treatment or radical surgery? A retrospective study on 68 patients.

Background: Fibrous dysplasia is a benign bone lesion characterized by replacement of normal bone with fibro-osseous connective tissue. The surgical treatment of fibrous dysplasia is based on one of two different approaches, conservative or radical. Methods: From January of 1980 to December of 2002, 95 patients with fibrous dysplasia located in the craniomaxillofacial area presented to the authors’ department. Twenty-one had the polyostotic type (22 percent), two had McCune-Albright syndrome (2 percent), and 72 had the monostotic type (76 percent). Of 95 patients, 68 underwent surgery; the remaining 27 refused. Among the 68 patients who underwent surgery, 61 had radical excision, six received conservative treatment, and a patient with mandibular involvement received radical excision and immediate reconstruction with a free fibula flap after a recurrence experienced 2 years after primary remodeling surgery Results: No disease recurrence was observed in cases treated with complete excision, whereas a case of mandibular involvement treated with remodeling required further surgery. Infection, resolved with antibiotics, was seen in one case, and palatal fistula was seen in two cases. In one case with cranial base involvement liquorrhea was observed. Conclusions: In most cases of monostotic or monofocal fibrous dysplasia of the craniofacial region, modern surgical techniques allow an aggressive but definitive treatment with good functional and aesthetic results. The authors perform radical treatment even in cases involving the maxilla and mandible, and prefer a conservative approach only in polyostotic cases and McCune-Albright syndrome.

Long-term skeletal stability after surgical correction in class III open-bite patients: A retrospective study on 40 patients treated with mono- or bimaxillary surgery

Many reports have paid attention to skeletal stability after orthognathic surgery, but only few focalize attention on patients with III class III malocclusion and open bite. In this article, long-term stability (2 yr) of the maxilla and the mandible after orthognathic surgery in 40 patients with class III malocclusion and anterior open bite is evaluated. The sample has been obtained from those 420 patients with class III malocclusion treated with Le Fort I osteotomy isolated (group A, 20 patients) or in association with bilateral sagittal split osteotomy (group B, 20 patients) from 1985 to 2003. On the basis of cephalometric analysis obtained in the immediate postoperative period and 2 years after surgery, in class III patients with anterior open bite treated with mono- or bimaxillary surgery and stabilization with rigid internal fixation, the maxilla was demonstrated to remain in the postsurgical position, whereas a moderate rate of mandibular relapse dependent on the amount of surgical alteration of the mandibular position was present.

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.

Role of Maxillofacial Surgery in Patients With Neurofibromatosis Type I

Neurofibromas are a clinical manifestation of neurofibromatos is type I (NF1). Management of these tumors remains a challenge for the clinician. The goal of the present study is to point out treatment guidelines for these lesions. Eighteen patients diagnosed with NF1 and presenting lesions of the craniomaxillofacial district were included in the study. On the basis of clinical evidence and patients expectations, only six patients of this group underwent surgery. All patients that had no surgery were included in a follow-up protocol to evaluate progression of disease. Four patients who underwent surgery had good functional/aesthetic results, whereas two patients had incomplete rehabilitation.

Upper airway volume after Le Fort III advancement in subjects with craniofacial malformation

Aim:There are no quantitative standards for the volumetric measurements of the airway space after Le Fort III advancement. Computed tomographic (CT) scans have provided the opportunity to compare with the accuracy of real anatomic changes, thus the functional improvements, resulting after a surgical treatment. Materials and Methods:Three-dimensional CT scans processed by Digital Imaging and Communications in Medicine files in Dolphin 3D software were used to assess the airway space volume in 4 subjects affected by craniofacial syndromic malformations treated with Le Fort III advancement. The preoperative (T0) and postoperative (T1: 6 mo after surgery) three-dimensional craniofacial CT scans of the subjects were collected and retrospectively analyzed. Image segmentation of the anatomic structures of interest and the three-dimensional graphic rendering were done by using the Dolphin Imaging Plus 11.0 software. Results:The airway space volume was significantly increased after surgery (mean [SD]: from 9166.57 [1861.48] mm3 to 15,300.45 [5114.09] mm3; P < 0.01). The sagittal surfaces had an expansion from 798.92 (74.88) to 1151.45 (218.47) mm2. The coronal surfaces grew from 226.75 (62.85) to 390.42 (102.21) mm2, and axial surfaces increased 473.32 (62.34) to 676.00 (151.07) mm2 from T0 to T1. Conclusions:In conclusion, this study showed an increase in the upper airway space volume in white subjects after Le Fort III advancement.

Intra-parotid facial nerve multiple plexiform neurofibroma in patient with NF1

INTRODUCTION Primary neurogenic tumours of facial nerve are uncommon with the majority found intra-temporally. Intracranial and intra-parotid neoplastic involvement of cranial nerve VII is much less common. There are 11 reported cases, in the English-language literature, of intra-parotid facial nerve plexiform neurofibromas with eight of them associated with NF1. MATERIALS AND METHODS A child, 10 years old, with NF1, reached us for a cheek swelling, slowly increased in previous 8 years. At the age of 3 years, a plexiform neurofibroma was diagnosed by biopsy of the lesion. Clinical examination and NMR showed in the sub-cutaneous tissue of the right cheek, two contiguous nodular lesions, about 2 cm x 1.5 cm in diameter; a third neoformed lesion, about 1cm in diameter, was located above the ipsilateral labial commissure. No facial nerve impairment was seen. The patient underwent superficial parotidectomy with removal of the lesions and preservation of the facial nerve. RESULTS The patient had a considerable regional swelling in the immediate post-operative course; no facial nerve impairment was observed. The swelling of the cheek did not show a fully regression in the post-operative course. Ultrasonography at 3 months showed a recurrence of disease. DISCUSSION Plexiform neurofibromas should be distinguished due to their risk of malignant transformation seen in up to 15% of patients affected by NF1. Surgery is the only effective option currently available for the treatment of PNF. However, success of surgical intervention is limited by the infiltrating nature of the tumours, resulting in a high rate of tumour re-growth. Facial nerve preservation during surgery is unlikely and significant morbidity can result from their excision. The age of the patient at surgical resection seemed to influence outcome: tumours resected before age 10 years recurred in 60% of cases compared with only 30% recurrence in patients older than the age of 10 years. CONCLUSION Indication and timing of surgery, in paediatrics patients with NF1, are complex. To avoid eventual physical and psychological consequences, it seems prudent to delay surgery as long as it is feasible for otherwise asymptomatic paediatric patients with facial plexiform neurofibroma.

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.

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

Abstract 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 Department 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.

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.

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.