Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

BACKGROUND: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short stature, amelogenesis imperfecta, and progressive skeletal dysplasia affecting the limbs, joints, hands, feet, and spine. CASE PRESENTATION: We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family. We reviewed the 12-year surgical treatment history with seven interventions on spine. CONCLUSION: To date, only 12 cases of the SLC10A7 mutation have been reported, mainly from consanguineous families. Our patient showed a relatively severe and broad clinical phenotype compared with previously reported cases. In this patient, annual check-ups and timely surgeries led to a good outcome.

A custom screw-retained implant-supported prosthesis for a patient with amelogenesis imperfecta: An 8-year clinical follow-up.

This clinical report with an 8-year follow-up describes the multidisciplinary management of a patient diagnosed with amelogenesis imperfecta. The rehabilitation included horizontal-guided bone regeneration, implant placement, use of a fixed interim prosthesis to preview the correction of occlusal disharmonies, and placement of a custom screw-retained definitive implant-supported restoration with a design that was retrievable and minimized maintenance problems.

Virtual Simulation of Periodontal Surgery Including Presurgical CAD/CAM Fabrication of Tooth-Colored Removable Splints on the Basis of CBCT Data: A Case Report.

Innovative digital diagnostic, design, and manufacturing technologies combined with high-performance polymers offer new possibilities to facilitate complex interdisciplinary treatment procedures. This article reports on the interaction of different digital technologies, from presurgical digital simulation of periodontal surgery to final prosthodontic rehabilitation, in a case of amelogenesis imperfecta in a 17-year-old girl. The aim was to digitally determine the treatment outcome by three-dimensional simulation of the soft tissue removal and to create computer-aided design/computer-assisted manufacture tooth-colored splints before the clinical treatment. The case report shows the synergy of the combination of multiple digital technologies for a predictable periodontal and prosthetic treatment outcome.

Amelogenesis Imperfecta and Early Restorative Crown Therapy: An Interview Study with Adolescents and Young Adults on Their Experiences.

Patients with Amelogenesis imperfecta (AI) can present with rapid tooth loss or fractures of enamel as well as alterations in enamel thickness, color, and shape; factors that may compromise aesthetic appearance and masticatory function. The aim was to explore the experiences and perceptions of adolescents and young adults living with AI and receiving early prosthetic therapy. Seven patients with severe AI aged 16 to 23 years who underwent porcelain crown therapy participated in one-to-one individual interviews. The interviews followed a topic guide consisting of open-ended questions related to experiences of having AI. Transcripts from the interviews were analyzed using thematic analysis. The analysis process identified three main themes: Disturbances in daily life, Managing disturbances, and Normalization of daily life. These themes explain the experiences of patients living with enamel disturbances caused by AI and receiving early crown therapy. Experiences include severe pain and sensitivity problems, feelings of embarrassment, and dealing with dental staff that lack knowledge and understanding of their condition. The patients described ways to manage their disturbances and to reduce pain when eating or drinking, and strategies for meeting other people. After definitive treatment with porcelain crown therapy, they described feeling like a normal patient. In conclusion the results showed that adolescents and young adults describe a profound effect of AI on several aspects of their daily life.

Chairside treatment of amelogenesis imperfecta, including establishment of a new vertical dimension with resin nanoceramic and intraoral scanning.

Amelogenesis imperfecta is a hereditary disease affecting the structural development of tooth substance. This clinical report describes a 1-visit chairside treatment of an 8-year-old patient with amelogenesis imperfecta, using computer-aided design and computer-aided manufacturing (CAD-CAM) technology. Intraoral scanning was performed using the Cerec Omnicam. Thirteen resin nanoceramic crowns (Lava Ultimate) were fabricated chairside by using a Cerec MCXL milling unit and seated adhesively. The patient's treatment included establishing a new occlusal vertical dimension and new centric relationship. Reevaluation after 6 months showed a stable situation.

The Prosthodontic Pathway for Patients with Anomalies Affecting Tooth Structure.

There are a number of anomalies that affect the structure of the dental hard tissues which impact upon the form, function and aesthetics of the dentition. Understanding the challenges these conditions pose will enable dentists to manage the functional and aesthetic problems with restorative techniques better. This article will present cases that demonstrate the different conditions, the restorative challenges experienced and a variety of restorative treatments in the management of these conditions. Clinical relevance: Awareness of different anomalies affecting tooth structure that may present to the dental practitioner is necessary. Clinicians should appreciate the specific restorative challenges that may arise in treating such patients and the possible treatment options that may be available.

Dentofacial Composition: An Entire Aesthetic Concept.

The aesthetic appearance of the mouth region, in addition to the eye and nose area, is the impressive element for facial aesthetics. Therefore, the reconstruction of the intraoral region is very important for the facial aesthetics in the case of genetic dysplasia, trauma, or even in cases for rejuvenating purposes only. The entire region is complex so that in many patient cases only the team work of restorative dentists, surgeons, and orthodontists will be effective. A key role is played here by the dental technician. Besides the frequent necessity of osseous augmentation, the mucogingival complex needs to be, in most cases, harmonized and reconstructed, respectively. There is often a lack of keratinized gingiva and disturbing cicatrice tracks. Quite frequently the mucogingival appearance is also unsatisfactory due to preceding operations and attempted plastic coverages. The aim of this report is to describe the successful surgical and prosthetic treatment of aesthetically and functionally impaired intraoral hard and soft tissue. For surgeons who are interested in aesthetics, it is advisable to learn from experiences of a specialized restorative dentist, oral surgeon, and orthodontist.

Correction of malocclusion and oral rehabilitation in a case of amelogenesis imperfecta by insertion of dental implants followed by Le Fort I distraction osteogenesis of the edentulous atrophic maxilla.

BACKGROUND: Amelogenesis imperfecta refers a group of hereditary diseases affecting the teeth and can present a variety of clinical forms and appearances, compromising esthetic appearance. Amelogenesis imperfecta variably reduces oral health quality and can result in severe psychological problems. CASE PRESENTATION: We present the management of an amelogenesis imperfecta Angle class III malocclusion case with speech, esthetics and functional problems. This is an example of the rarely presented delayed eruption with multiple morphologic dental alterations and edentulous maxilla.There are only a few available reports in which this method is used method to correct sagittal discrepancies in edentulous patients.Our treatment plan consisted of a preoperative diagnostic and prosthodontics phase (including preparation of guiding prosthesis), followed by a surgical phase of Le Fort I osteotomy, distraction osteogenesis to correct the malocclusion, implant insertion and a follow up final restorative phase. CONCLUSIONS: Our treatment strategy attempts to serve patient needs, achieving function and esthetics while also minimizing the risk of reconstruction failure. Treatment not only restored function and esthetics, but also showed a positive psychological impact and thereby improved perceived quality of life.

Conservative treatment for amelogenesis imperfecta: a case report.

Amelogenesis imperfecta is a hereditary condition that can alter the thickness, color, and shape of tooth enamel. Recent adhesive materials and techniques have provided less invasive treatment options. This case report presents the treatment of a patient whose anterior teeth had color alterations, white spots, pits, and shape defects. Using a more conservative technique, the mandibular and maxillary anterior teeth were restored using veneer direct composite restorations. After 6 years, the restorations demonstrated no deterioration, and no pathology was seen in association with the rehabilitation.

Amelogenesis imperfecta - lifelong management. Restorative management of the adult patient.

The biggest challenge restorative dentists face in rehabilitating patients with amelogenesis imperfecta (AI) is trying to restore aesthetics, function and occlusal stability while keeping the treatment as conservative as possible. The goals of treatment should be to prolong the life of the patient's own teeth and avoid or delay the need for extractions and subsequent replacement with conventional fixed, removable or implant retained prostheses. In order to achieve these goals a stepwise approach to treatment planning is required starting with the most conservative but aesthetically acceptable treatment. This article discusses the management of AI and presents the various treatment options available for restoring the adult patient who presents to the dentist with AI.

Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation.

A 3-week-old boy was diagnosed with congenital osteopetrosis. He underwent a bone marrow transplant at 6 weeks of age. At 3 years of age the primary teeth had all erupted, but the canines and the first molars totally lacked root development. The teeth were smaller in size and had evidence of both enamel hypomineralization and hypoplasia. In the permanent dentition, multiple missing teeth were found. The incisors were conical and the mandibular laterals were extremely small. All permanent teeth had normal eruption. This case shows that dental development and eruption of teeth can be reconstituted in a child with congenital osteopetrosis. Bone marrow transplantation induces normalization of osteoclast function, which is a prerequisite for normal dental development and eruption of teeth.