Roberto Brusati

Prevalence of abnormalities in dental structure, position, and eruption pattern in a population of unilateral and bilateral cleft lip and palate patients.

Objective: To evaluate the dental characteristics of patients subjected to a protocol that included early secondary gingivoalveoloplasty (ESGAP). Design: Panoramic radiographs of 87 patients with unilateral cleft lip and palate (UCLP) and 29 with bilateral cleft lip and palate (BCLP) were evaluated. Missing and supernumerary teeth were also quantified on the cleft and noncleft side and in the maxilla and mandible. Crown and root malformations and tooth rotations were quantified. A subsample in permanent dentition was extrapolated to analyze canine eruption patterns. Results: A total of 48.8% of the UCLP patients presented with missing permanent lateral incisors in the cleft area and 6.1% contralaterally. A total of 4.9% presented with missing second maxillary premolars on the cleft site and 1.2% contralaterally. A total of 7.3% presented with supernumerary lateral incisors, and 45% of the BCLP cleft sites presented with missing lateral incisors, while 25% of the cleft sites presented second maxillary premolars agenesis. Five percent of the cleft sites presented with supernumerary lateral incisors. Evaluation of the subsample in permanent dentition showed that 15.5% had a canine retention and 4.4% of the canines had to be surgically exposed. A significant association was observed between canine inclination and retention but not with absence of the lateral incisor. Conclusions: The frequency of dental anomalies in this sample was similar to other cleft populations. As surgical trauma has been suggested to damage forming teeth, the results of this study indicated that ESGAP has no detrimental influence on subsequent dental development.

The early gingivoalveoloplasty : preliminary results

To try and achieve good alveolar structure without the need for later bone grafting, we have carried out secondary gingivoalveoloplasties in 19 consecutive patients with cleft lip and palate at a mean age of 36 months (range 19-68). The lip and soft palate had been repaired at a mean age of 6 months. Preliminary results suggest that simultaneous closure of the hard palate and reconstruction of the alveolomaxillary cleft results in good formation of new bone and good or reasonable alveolar structure, so obviating the necessity for bone grafting at the age of 9-10 years. Long term follow up is needed to confirm these results.

Masseteric–facial nerve anastomosis for early facial reanimation

OBJECTIVE Early repair of facial nerve paralysis when cortical neural input cannot be provided by the facial nerve nucleus, is generally accomplished anastomozing the extracranial stump of the facial nerve to a motor donor nerve. That is generally the hypoglossus, which carries a variable degree of morbidity. The present work aims to demonstrate the effectiveness of the masseteric nerve as donor for early facial reanimation, with the advantage that harvesting is associated with negligible morbidity. METHODS Between October 2007 and August 2009, 7 patients (2 males, 5 women) with unilateral facial paralysis underwent a masseter-facial nerves anastomosis with an interpositional nerve graft of the great auricular nerve. The interval between the onset of paralysis and surgery ranged from 8 to 48 months (mean 19.2 months). All patients included in the study had signs of facial mimetic muscle fibrillations on electromyography. The degree of preoperative facial nerve dysfunction was grade VI following the House-Brackmann scale for all patients. RESULTS At the time of the study, all the patients with a minimum follow-up time of 12 months after the onset of mimetic function had recovered facial animation. Facial muscles showed signs of recovery within 2-9 months, mean 4.8 months, with the restoration of facial symmetry at rest. Facial movements appeared while the patients activated their chewing musculature. Morbidity related to this intervention is only the loss of sensitivity of earlobe and preauricular region. CONCLUSION The present technique seems to be a valid alternative to classical hypoglossal-facial nerve anastomosis because of similar facial nerve recovery and lower morbidity.

Comparison of mandibular vertical growth in hemifacial microsomia patients treated with early distraction or not treated: Follow up till the completion of growth

AIM Comparison of the long-term follow-up until the completion of growth of two homogeneous samples of children affected by hemifacial microsomia (HFM), one treated by mandibular distraction osteogenesis (DO) in the deciduous or early mixed dentition, the other not subjected to any treatment until adulthood. MATERIAL Fourteen patients affected by vertically severe type I or II HFM were operated at an average age of 5.9 years with an average follow-up of 11.2 years. They were compared to a sample of eight patients who were never treated until the completion of growth. METHODS Mandibular vertical changes were measured on panoramic radiographs taken at different time points. Ratios between affected and non affected ramal heights were calculated and compared. RESULTS In the DO sample, after correction, mandibular vertical changes showed a gradual return of the asymmetry with growth in all patients. The ratio in the non treated sample was unchanged between the initial and the long term panoramic x-rays. CONCLUSION The facial proportions of HFM patients are maintained, when not treated, throughout growth. The same proportions return to their original asymmetry after DO. Even though short term aesthetic and psychological advantages of distraction osteogenesis are well accepted, early surgery should only be applied after careful patient selection and honest clarification of the long term recurrence by genetically guided craniofacial growth pattern.

Cystathionine beta‐synthase c.844ins68 gene variant and non‐syndromic cleft lip and palate

Non‐syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hcy genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta‐synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent‐of‐origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7‐fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CL/P and supports a role of maternal‐embryo interactions in the etiology of CL/P.

Reconstruction of the orbital walls in surgery of the skull base for benign neoplasms

Surgery for benign neoplasm extending into the orbital roof requires immediate reconstruction to avoid complications, which include transmission of the cerebral pulse to the globe, bulbar dystopia, diplopia, and fibrosis of the oculomotor muscles. Many alloplastic materials have been employed for such reconstruction, but currently most authors agree that autologous bone graft is the best option. Using calvarial bone in adults and split ribs in children, we have operated on eight patients for fibrous dysplasia (five cases), neurofibroma (two cases), or meningioma (one case). After a median follow-up period of two years and six months, good morphology of the orbit was maintained with no ocular symptoms.

The temporalis muscle flap in temporo-mandibular joint surgery

In the treatment of the severely damaged TMJ structural components (ankylosis, arthrosis, tumour, perforation or degeneration of the disc), it is advisable to insert a biological interposition between bony articular surfaces. The temporal muscle, due to its anatomical, topographical, and functional properties, can be successfully employed for this purpose. Based on the experience of Tessier, Delaire and Rowe, a temporalis muscle flap, inferiorly based, is rotated downwards and medially to the zygomatic arch, interposed and then fixed to condyle and capsule. Using this surgical technique, 12 patients and 13 temporo-mandibular joints were treated with good functional results and without any complication.

Contemporary Management of Vascular Malformations

PURPOSE To review the literature on vascular malformations and to clarify their diagnosis, clinical presentation, and treatment options. MATERIAL AND METHODS The authors reviewed the current literature on vascular malformations looking for more innovative and credited diagnostic criteria and treatment protocols. RESULTS The review is divided in 4 sections (capillary, venous, arteriovenous, and lymphatic malformations). In each section, the clinical presentation, radiologic features, and treatment options for each kind of vascular malformation are described. The experience and results of the authors also are presented. CONCLUSIONS Vascular malformations are a heterogeneous group of diseases. Each type of malformation has unique features that make it largely different from the others. Only a clear and correct diagnosis can lead to optimal results.

Alveolar bone formation in patients with unilateral and bilateral cleft lip and palate after early secondary gingivoalveoloplasty: long-term results.

Background: The Milan surgical protocol includes the use of an early secondary gingivoalveoloplasty together with hard palate closure at 18 to 36 months, to avoid later bone grafting. The goal of this study was to evaluate the long-term quality of ossification in patients who have undergone early secondary gingivoalveoloplasty. Methods: The samples consisted of panoramic radiographs of 87 unilateral cleft lip–cleft palate and 29 bilateral cleft lip–cleft palate patients. The records available allowed for a longitudinal and a cross-sectional evaluation of the ossification in the cleft area. Alveolar bridging was assessed using a modified Bergland’s scoring system. Nasal area ossification and canine inclination were each given three different qualitative scores. Results: The alveolar bridging noted was type I (71.7 percent), type II (23.5 percent), and type III (4.8 percent) in the whole sample of unilateral and bilateral cleft lip–cleft palate patients. No type IV ossification was found. Longitudinal analysis showed that approximately one-fourth of the cleft sites improved after permanent tooth eruption, and very few worsened. An evaluation of permanent dentition in a group of 27 unilateral and nine bilateral cleft lip–cleft palate patients (mean age, 14.8 ± 2.0 years) showed that 15.5 percent of the whole sample had canine retention and 4.4 percent of the whole sample had to be surgically exposed. Conclusions: Early secondary gingivoalveoloplasty seems to allow for adequate ossification in both the alveolar and the nasal regions. Permanent tooth eruption occurs at a normal rate. None of the patients has required a secondary alveolar bone graft.

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

UNLABELLED Beckwith-Wiedemann syndrome (BWS) is the most common (epi)genetic overgrowth-cancer predisposition disorder. Given the absence of consensual recommendations or international guidelines, the Scientific Committee of the Italian BWS Association (www.aibws.org) proposed these recommendations for the diagnosis, molecular testing, clinical management, follow-up and tumor surveillance of patients with BWS. The recommendations are intended to allow a timely and appropriate diagnosis of the disorder, to assist patients and their families, to provide clinicians and caregivers optimal strategies for an adequate and satisfactory care, aiming also at standardizing clinical practice as a national uniform approach. They also highlight the direction of future research studies in this setting. With recent advances in understanding the disease (epi)genetic mechanisms and in describing large cohorts of BWS patients, the natural history of the disease will be dissected. In the era of personalized medicine, the emergence of specific (epi)genotype-phenotype correlations in BWS will likely lead to differentiated follow-up approaches for the molecular subgroups, to the development of novel tools to evaluate the likelihood of cancer development and to the refinement and optimization of current tumor screening strategies. CONCLUSIONS In this article, we provide the first comprehensive recommendations on the complex management of patients with Beckwith-Wiedemann syndrome.