Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.

OBJECTIVE: Primary failure of eruption is characterized by a nonsyndromic defect in tooth eruption in the absence of mechanical obstruction. It is correlated to rare heterozygous variants in the parathyroid hormone receptor 1 gene. The management of primary failure of eruption is complex because many therapies are ineffective. The present study aimed to compare the clinical outcomes of our patients with the findings reported in the literature, and to propose a treatment guideline based on the literature and our experience. METHODS: Retrospective study of patients affected by primary dental eruption failure in the department and analyse of the results and compare with those of the litterature. RESULTS: Twelve patients belonging to 5 families (9 males, 3 females; 13-52 y old) diagnosed and treated in the maxillofacial surgery and stomatology department of the Lille University Hospital were included. All patients showed posterior tooth involvement, and most patients showed bilateral defects. None of the affected teeth had coronal alveolar bone, whereas 6 patients showed root resorption in the affected teeth. Genetic analyses, performed on 11 patients, identified a parathyroid hormone receptor 1 disease-causing variant in 7 of them (63%). Multidisciplinary treatment was required to rehabilitate these patients. Orthodontic interventions, even at an early age, are difficult in affected teeth, which are often blocked or have internal resorption. Moreover, retention of these affected teeth during growth leads to dentoskeletal malocclusions, requiring difficult surgical management in the long term. Therefore, early extraction of these teeth is frequently recommended once the diagnosis has been confirmed. An implant-borne prosthetic rehabilitation can then be achieved at the end of growth after correction of the jaw discrepancy. In case of a late diagnosis, other surgical or noninvasive techniques may be used depending on the clinical situation. Distraction osteogenesis or segmental osteotomy could be discussed for patients with mild phenotypes. CONCLUSIONS: Early diagnosis of primary eruption defects is crucial to offer appropriate management as early as possible, and so to avoid late complicated treatments.

Three-dimensional Assessment of Autologous Calvarial Bone Grafting for Alveolar Clefts Reconstruction in Pediatric Population: A Retrospective Study.

Reconstruction of alveolar clefts using cancellous bone graft is associated with a high rate of resorption. The aim of this study was to evaluate the osseointegration capacity of cortical calvarial bone grafting using 3-dimensional imaging assessment for alveolar cleft reconstruction in pediatric population.All alveolar bone grafting procedures performed between January 2015 and October 2017 in the maxillofacial surgery department of Lille University Hospital were included. All patients were evaluated clinically and by 3-dimensional imaging before bone grafting and at 3 months after surgery. Cleft and bone graft volumes were assessed using Horos software, v. 3.3.5, through a segmentation process. The bone filled ratio at 3 months after surgery was calculated. A total of 48 alveolar bone grafting procedures were performed in 37 patients: 3 unilateral cleft lip and alveolar, 20 unilateral cleft lip and palate, and 25 bilateral full cleft lip and palate (3 patients had only unilateral surgery). The mean bone filled ratio was 72.27%±23.65%, 81% for unilateral cleft lip and alveolus, 75.4%±20.6 for unilateral cleft lip and palate, and 65.5%±30 for bilateral complete cleft lip and palate ( P =0.1981). Calvarial bone grafting seems to be a relevant alternative to other donor sites for alveolar cleft reconstruction.

Three-dimensional printing models improve long-term retention in medical education of pathoanatomy: A randomized controlled study.

Craniosynostosis is a rare and complex pathology, and visuospatial skills are necessary for a good understanding of the condition. While the use of three-dimensional (3D) models has improved the understanding of complex craniofacial anatomy, no study has evaluated the impact of this teaching support on long-term retention. Our randomized controlled trial was designed to compare the long-term retention of information with 3D-printed models of four types of craniosynostosis versus classic 3D reconstructions displayed in two-dimensional (2D) among undergraduate students. All students benefited from the same standardized course followed by the manipulation of the learning tool associated with the group for 15 min. Long-term retention was assessed by the capability to properly recognize different types of craniosynostosis 3 weeks after the course. Eighty-five students were enrolled. Previous educational achievements and baseline visuospatial skills were similar between the groups. The bivariate analysis showed the mean score in the 3D and 2D groups were 11.32 (2.89) and 8.08 (2.81), respectively (p < 0.0001). 3D-printed models of structures with spatial complexity such as various craniosynostosis patterns improve significantly medical students' long-term retention, indicating their educational efficacy.

Orthognathic Surgery in Craniosynostosis.

INTRODUCTION: Craniosynostosis is characterized by the fusion of 1 or more sutures of the skull leading to craniofacial deformations. Our aim is to describe the dental malocclusion associated with craniosynostosis, syndromic, or nonsyndromic, and also the treatment used and its stability. MATERIAL AND METHODS: This retrospective study included all patients who presented at our Department for facial growth monitoring and occlusal management following syndromic and nonsyndromic craniosynostosis. Inclusion began in January 1996 and ended in December 2015 to ensure sufficient follow-up. Orthognathic surgery was performed after the end of growth. Dental occlusion was evaluated clinically and radiographically. RESULTS: Fifty-five patients were included with 18 syndromic cases. The majority of patients presented with class III malocclusion (69.1%), especially syndromic cases (94.7%) and brachycephalies (96.3%). Conversely, scaphocephalies are associated with class II malocclusions. Thirty-nine patients underwent orthodontic treatment associated with orthognathic surgery to correct their malocclusion. In 4 cases, optimal dental occlusion was achieved with orthodontic treatment alone. Forty patients achieved stable optimal final dental occlusion. Optimal dental occlusion was achieved in 76.9% of the nonsurgically treated craniosynostosis patients and 68.9% of the surgically treated craniosynostosis patients. DISCUSSION: Sutural fusion induces a facial growth restrictions and dental malocclusions. Several mechanisms may be responsible for these malocclusions: positional anomaly of the jaws due to the cranial deformity, associated anomaly of the facial sutures, or osteocartilagenous system diseases. Early craniosynostosis management does not avoid the occurrence of malocclusion, which will require orthodontic treatment and orthognathic surgery for their management.

Temporomandibular Joint Dysplasia in Cranio-Maxillofacial Dysplasia: A Retrospective Study. Guideline Treatment Proposal.

INTRODUCTION: Cranio-Maxillofacial Dysplasias (CMD), including Craniofacial Microsomias, syndromes (such as Treacher Collins or Williams) and isolated Condylo-Mandibulo-Dysplasia, is a controversial subject with treatments as diverse as diagnostic classifications. The authors present here a retrospective study of 85 patients, with congenital condyle dysplasia arising from these 3 main types of CMD, treated with different techniques that aimed to normalize the facial skeleton and occlusion. METHODS: The authors studied retrospectively 85 patients, aged from 3 to 53 years old, affected by different types of CMD. Treatment options included: costochondral grafts, orthognathic surgeries, distraction osteogenesis procedures, orthodontic and dentofacial orthopedic treatments, and soft tissues surgeries. Outcomes were evaluated by the surgical team. RESULTS: Seventeen patients were treated with costochondral grafting, 14 with distraction osteogenesis, 17 with orthodontic and dentofacial orthopedic, and 45 with orthognathic surgery. The authors did not perform any nerve grafting or temporomandibular joints prosthesis placement. Fifty-one patients presented an excellent result, 10 a good result, 9 a poor result, 2 a bad result, and 14 an unknown result. DISCUSSION: Several different treatments of CMD can be proposed. The authors think that major defect in children should undergo costochondral grafting because of its growth potential while in case of minor defect, orthopedic treatment should be tried in the first place. Distraction osteogenesis should be reserved for cases with poor response after orthopedic treatment or growth insufficiency with costochondral grafting. Orthognathic surgery is often necessary at the end of the growth period to obtain an excellent result. Temporomandibular joints prosthesis should be reserved for extreme cases.

Secondary Care of Cleft Lip and Palate: Analysis of Dentofacial Orthopedic and Orthognathic Treatments.

INTRODUCTION: Orthodontic and orthognathic management of cleft lip and/or palate (CLP) is a highly controversial subject. We present herein a retrospective study of 214 secondary cases followed over 22 years in order to assess the factors of successful management. MATERIAL AND METHODS: The study focuses on the results of gingivoperiosteoplasty, and occlusal stability. Nine subgroups were identified, taking into account the age of the patients, the history of surgery on the alveolar region, and the presence or absence of skeletal discrepancy. RESULTS: Results clearly demonstrate a higher rate of poor outcomes and failures in the multioperated population. The success rate of the graft is 80.82% in the multioperated population versus 100% non-multioperated population. Periodontitis problem or orthodontic difficulties affect 19.17% of the patient in the multioperated groups versus 12% in the other groups. Relapse, particularly the transversal dimension, is also found mostly in the multi-operated population: 17.8% versus 6% in the non-multioperated population. DISCUSSION: Several factors are involved in the success of orthodontics, dentofacial orthopedics, and orthognathic surgery of CLP patients. Our study shows that previous surgeries, especially when they are multiple with repeated failures, jeopardize the chances of success of secondary treatments. This is explained by the secondary fibrosis of the tissues around the cleft. Finally, major palatal surgeries performed early, have adverse effects on maxillary growth. Many other factors play an important role in the stability of the success that are linked with orofacial functions. These data must be taken into account in the treatment of CLP patients.

Assessing Quality of Life After Orthognathic Surgery in Disabled Patients.

INTRODUCTION: Orthognathic surgery is a common procedure in facial deformities treatment but requires a high level of compliance from the patient. Performing this treatment for mentally disabled patients is a subject of discussion. The aim of this study was to evaluate the quality of life (QOL) after orthognathic surgery in disabled patients. MATERIAL AND METHODS: Eight patients with mental disability who underwent orthognathic surgery between 2007 and 2017 participated in this study. Their family or guardian completed a questionnaire to assess modification in aesthetic, functional, and social abilities after orthognathic surgery. Complications, difficulties in maintaining postoperative cares were also recorded. RESULTS: All patients had improvement in global facial aesthetic. 62.5% of the patients had improvement in self-esteem and confidence in social events. Regarding functional aspect, the main improvement was found in chewing (75%) and ability to move the jaw (75%). Two patients (25%) found that jaw noises and pain were worse after surgery. No major complication occurred. Postoperative care was hard to follow but no patient had to stop maxillomandibular fixation. CONCLUSION: On well selected cases, orthognathic surgery is a safe procedure which provides improvement in QOL in disabled patients.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes. Methods: The training set contained 1,592 ear photographs, corresponding to 550 patients. We extracted 48 patients completely independent of the training set, with only one photograph per ear per patient. After a CNN-(Convolutional Neural Network) based ear detection, the images were automatically landmarked. Generalized Procrustes Analysis was then performed, along with a dimension reduction using PCA (Principal Component Analysis). The principal components were used as inputs in an eXtreme Gradient Boosting (XGBoost) model, optimized using a 5-fold cross-validation. Finally, the model was tested on an independent validation set. Results: We trained the model on 1,592 ear photographs, corresponding to 1,296 control ears, 105 MFDM, 33 NAFD, 70 TC and 88 CHARGE syndrome ears. The model detected MFDM with an accuracy of 0.969 [0.838-0.999] (p < 0.001) and an AUC (Area Under the Curve) of 0.975 within controls (binary classification). Balanced accuracies were 0.811 [0.648-0.920] (p = 0.002) in a first multiclass design (MFDM vs. controls and differential diagnoses) and 0.813 [0.544-0.960] (p = 0.003) in a second multiclass design (MFDM vs. differential diagnoses). Conclusion: This is the first AI-based syndrome detection model in dysmorphology based on the external ear, opening promising clinical applications both for local care and referral, and for expert centers.

Dental and maxillofacial manifestations of Steinert's myotonic dystrophy: A retrospective case series and therapeutic investigation.

This retrospective study was performed to analyse the facial features and occlusal anomalies in 18 patients with Steinert's myotonic dystrophy (MD1). Medical and surgical management issues noted in this study may contribute to clinical decision-making. This series included 18 patients with MD1 who presented for maxillofacial consultations. For all patients, the following characteristics were assessed: sex, age, intellectual ability, oral condition, initial assessment of the occlusion and facial aspect. In total, 11 of 18 patients underwent surgery (10 achieved occlusion modification, whereas one did not). amongst patients who underwent surgery and achieved occlusion modification, six had stable class I results and four had unstable results or exhibited a slight degradation. Facial muscles play an important role in craniomaxillofacial development and facial aspects. A high prevalence of malocclusions is present in patients with MD1. Orthodontics and orthognathic surgery can improve the quality of life for affected patients. However, the long-term results of these treatments may be disappointing, and relapse can occur in patients with the most severe disease. Aspects of disease to consider while planning for surgery include oral health, risks of instability and relapse, and risks involving anaesthesia.

Retrospective evaluation of 211 patients with maxillofacial reconstruction using parietal bone graft for implants insertion.

PURPOSE: For a century, autologous bone grafts have been used in maxillofacial reconstruction. The ideal bone harvest site and grafting procedure remains a point of contention in regards to obtaining optimal long-term results with sufficient bone quantity and density without serious complications. More recently, confronted with growing patient requests and biomaterials development, maxillofacial surgeons and dentists have been considering these issues as they relate to pre-implant surgery. This study sought to evaluate implant success rate and complications following pre-implant surgery with parietal bone grafting. MATERIALS AND METHODS: A retrospective study was carried out on patients who underwent maxillofacial reconstruction of different sites (symphysis, mandibular corpus, maxillary sinus and premaxilla) for the purpose of implant insertion. RESULTS: 311 procedures in 211 patients were included. The implant osseointegration rate was around 95%. Clinical follow-up ranged from 10 months to 11 years. A secondary procedure was performed in 6.1% of cases and we noted no serious complications at the harvest site. DISCUSSION: With good revascularization and osseointegration of the graft, the use of parietal bone leads to an implant success rate similar to that seen in the literature. Moreover, the use of this material results in few infections and low bone resorption provided there is strict immobilization of the graft and no tension on the soft tissue sutures. CONCLUSION: Parietal bone grafts technique possess the required qualities for the success of implant surgery, offering results at least as interesting as others using autogenous bone and with no serious complications on donor site.

Osseous and dental outcomes of primary gingivoperiosteoplasty with iliac bone graft: A radiological evaluation.

Primary alveolar cleft repair has two main purposes: to restore normal morphology and normal function. Gingivoperiosteoplasty with bone grafting in mixed dentition has been a well-established procedure. We hypothesized that 1) performance of this surgery in deciduous dentition would provide favorable bone graft osseointegration, and 2) would improve the support of incisor teeth eruption, thereby avoiding maxillary growth disturbances. We conducted a retrospective study of clinical and tridimensional radiological data for 73 patients with alveolar clefts (with or without lip and palate clefts) who underwent gingivoperiosteoplasty with iliac bone graft in deciduous dentition. Pre- and post-operative Cone Beam Computed Tomography (CBCT) comparison allowed evaluation of the ratio between bone graft volume and initial cleft volume (BGV/ICV ratio), and measurement of central incisor teeth movements. This series of 73 patients included 44 males and 29 females, with a mean age of 5.5 years. Few complications were observed. Post-operative CBCT was performed at 7.4 months. The mean BGV/ICV ratio was 0.62. Axial rotation was significantly improved post-operatively (p = 0.004). Gingivoperiosteoplasty with iliac bone graft is safe when performed in deciduous dentition and results in a sufficient bone graft volume to support lateral incisor eruption and upper central incisor tooth position improvement.