A diagnosis of amelogenesis imperfecta can present challenges for patient and clinician alike. This can be further complicated in a child due to cooperation and the ever-changing dentition. This paper looks at the ideals for management at various stages of the developing dentition but also considers the compromises which may have to be made depending on the child's ability to cope. The importance of early diagnosis, prevention and the benefits of a multi disciplinary approach are also discussed.
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http://dx.doi.org/10.1038/sj.bdj.2012.366 | DOI Listing |
Spec Care Dentist
January 2025
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, AIIMS, New Delhi, India.
Renal tubular acidosis (RTA) is a group of disorders in which there is an alteration in acid-base homeostasis because of the impairment of nephrons to excrete hydrogen ions or reabsorb bicarbonate ions, resulting in chronic metabolic acidosis. RTA is an important cause of rickets, particularly 'resistant rickets'. Dental manifestations frequently reported in patients with RTA include enamel hypoplasia and amelogenesis imperfecta, affecting permanent dentition.
View Article and Find Full Text PDFPLoS Genet
January 2025
Department of Veterinary Biosciences, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland.
Inositol 1,4,5-trisphosphate receptors (IP3R) mediate Ca2+ release from intracellular stores, contributing to complex regulation of numerous physiological responses. The involvement of the three IP3R genes (ITPR1, ITPR2 and ITPR3) in inherited human diseases has started to shed light on the essential roles of each receptor in different human tissues and cell types. Variants in the ITPR3 gene, which encodes IP3R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J).
View Article and Find Full Text PDFOral Dis
January 2025
Facultad de Odontología, Universidad de Chile, Santiago, Chile.
Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
View Article and Find Full Text PDFJ Dent Child (Chic)
September 2024
Department of Orthodontics, University of Marburg School of Dentistry, Marburg, Germany.
The purpose of this article is to present three cases of a rare phenomenon called pre-eruptive coronal resorption (PCR), which occurs in teeth with enamel degeneration. In the first case, the enamel defects occurred due to ectodermal dysplasia, which represents the first documented case of a patient with ectodermal dysplasia who underwent PCR. In the other two cases, the enamel defects occurred due to amelogenesis imperfecta.
View Article and Find Full Text PDFJ Med Life
October 2024
Department of Removable Prosthodontics, Faculty of Dental Medicine, University of Monastir, Monastir, Tunisia.
Amelogenesis imperfecta refers to a group of hereditary diseases that affect dental enamel, often leading to a wide range of clinical manifestations and aesthetic concerns. This case report describes a female patient diagnosed with amelogenesis imperfecta associated with a skeletal open bite. The treatment approach was multidisciplinary.
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