Interdisciplinary rehabilitation using CAD-CAM technology for a young patient with severe malocclusion and amelogenesis imperfecta: A 5-year follow-up case report.

Treatment of acute cases of amelogenesis imperfecta is challenging in children due to the absence of a consensus statement on therapy recommendations. This article presents the effectiveness of an interdisciplinary approach, including orthodontics, orthognathic surgery, and prosthodontics using digital technology, in a child with amelogenesis imperfecta and skeletal deformities. The early management over a 6-year period had a very positive impact on the quality of life related to oral health. The full-mouth rehabilitation in adulthood with all-ceramic crowns showed a fully satisfactory result after 60 months of follow-up.

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.

Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report.

This manuscript describes an interdisciplinary approach over a period of 8 years combining surgical and prosthodontic treatment of a young patient diagnosed with hypocalcified-type amelogenesis imperfecta and anterior open bite. The treatment procedures included transitional restorations, orthodontic treatment, and maxillofacial surgery with a one-piece Le Fort I osteotomy, bilateral mandibular osteotomy, and genioplasty. The definitive prosthetic rehabilitation consisted of 28 zirconia-based ceramic single crowns restoring both esthetics and function. Photographs and radiographs associated with clinical evaluation were used in the maintenance period. Two-year follow-up revealed satisfactory results and no deterioration in the restorations.

Multidisciplinary management of a child with severe open bite and amelogenesis imperfecta.

AIM: To present a case of multidisciplinary management and fixed rehabilitation of a young girl with amelogenesis imperfecta (AI), a severe open bite and occlusal instability. BACKGROUND: AI is a genetic disorder characterized by enamel malformations, disturbances in tooth eruption and significant attrition. Early diagnosis is essential, since rapid breakdown of tooth structure may occur, giving rise to acute symptoms and complicated treatment. As AI is frequently accompanied by unesthetic appearance, open bite deformity and malocclusion, a multidisciplinary approach is often required. CASE REPORT: This clinical report describes the condition and presents the case of a 10-year-old girl with hypocalcified form of AI. Orthodontic treatment and orthognathic surgery were performed as part of the prosthetic treatment plan to achieve acceptable and durable results. They consisted of correcting class II, posterior crossbite and anterior open bite with a fixed orthodontic appliance, Lefort I osteotomy, bilateral mandibular ramus osteotomy and genioplasty. Prosthodontics treatment consisted of metal-ceramic crowns with low-fusing ceramic for good long-term results. No deterioration in the rehabilitation was found after 5 years of follow-up. CONCLUSION: Complete restoration of severe AI is a long and complex process generally extending over several years. CLINICAL SIGNIFICANCE: This article shows the important role of interdisciplinary approach to treating a patient with AI over a period of 8 years.

Surgical and prosthetic treatment in an elderly patient affected by unilateral idiopathic gingival fibromatosis: a case report.

OBJECTIVES: The aim was to present the diagnosis and treatment of a case of unilateral idiopathic gingival fibromatosis (IGF) in a geriatric patient. BACKGROUND: IGF is a rare condition characterised by an enlargement of the attached and marginal gingivae with no obvious association to any causative factor. Gingival overgrowth causes inaesthetic changes and clinical symptoms such as speech disturbances, tooth movement, and occlusal problems. MATERIALS AND METHODS: A 65-year-old female presented localised enlargement of mandibular gingiva, malpositioning of anterior mandibular teeth, and difficulty in speech and mastication. IGF also causes numerous aesthetic and psychological problems. Treatment consisted of multiple extractions, surgical therapy, and early prosthetic rehabilitation to restore function and appearance and to prevent recurrence. RESULTS: Excellent aesthetic result and psychological benefit were achieved, and no fibromatosis recurrence was detected after 1 year following surgery. CONCLUSION: Gingival resection of the tissue excess and early oral rehabilitation with removable dentures have so far greatly improved patient's quality of life.

Dentinogenesis imperfecta: long-term rehabilitation in a child.

The treatment of dentinogenesis imperfecta represents a challenge for the dental practitioner. The aim of this case report was to describe the chronology and problems encountered in the long-term rehabilitation of a young girl suffering from dentinogenesis imperfecta with severe attrition. A 2-stage treatment over a period of 9 years is described and discussed. This treatment comprised an initial treatment to restore esthetic appearance and function during primary and mixed dentitions and a complete prosthetic rehabilitation in a second stage to protect permanent teeth with low-fusion ceramicmetal individual crowns. Discovery of a follicular cyst is also reported and its treatment is described.

Infected immature teeth treated with surgical endodontic treatment and root-reinforcing technique with glass ionomer cement.

The authors propose surgical endodontic treatment of immature teeth characterized by necrosis and infection, especially after failure of apexification or in the presence of older, fibrous, and extensive lesion. A glass ionomer cement, autopolymerizable and condensable, is used as retro-filling material and as a reinforcement material for the canal walls. The variety of different cases presented here show that this rapid technique is reliable and reproducible.