Some patients with generalized attrition and teeth discoloration may want their anterior teeth to be treated just for esthetic improvement. Ameologenesis imperfecta, however, should be considered for such patients prior to any treatment with thorough clinical and radiographic examination. If a patient is diagnosed with amelogenesis imperfecta, the treatment on anterior teeth just for esthetic purpose is not advisable. In this case, a young man with amelogenesis imperfecta was treated with metal-ceramic restorations. The patient had generalized attrition, teeth discoloration, crown fracture, and cross-bite on the left teeth. The ultimate objective of this treatment was to enhance esthetics and masticatory function. The cross-bite on the left anterior teeth was treated with restorations, whereas the reverse horizontal overlap was maintained on the posterior. The patient was satisfied with the result esthetically and functionally, and the third month recall examination revealed no pathologic changes associated with the treatment.
Amelogenesis ; Amelogenesis Imperfecta ; Crowns ; Esthetics ; Humans ; Tooth ; Young Adult

OBJECTIVETo localize the gene (s) responsible for autosomal dominant hypocalcified amelogenesis imperfecta in a Chinese family.

METHODSA Chinese family which was diagnosed as autosomal dominant hypocalcified amelogenesis imperfecta (AD) was studied. Venous blood from nineteen family members was collected and genomic DNA was extracted from the blood. Eight short tandem repeats (STRs) spanning five hereditary AI candidate genes were selected and linkage analysis between the genetic markers and the disease loci was performed.

RESULTSGenotype of the eight STRs were acquired, the linkage analysis result can not support that the gene for AI pedigrees was linked to ENAM, AMBN, TUF1, KLK4 or MMP-20.

CONCLUSIONThe results can not support all proposed candidate gene regions as causal for autosomal dominant hypocalcified AI in this family. These linkage findings provide further evidence for genetic heterogeneity among families with autosomal dominant AI and indicate that, at least, some forms of autosomal dominant AI are not caused by a gene in the five most commonly reported AI candidate genes.

OBJECTIVETo study the differences between amelogenesis imperfecta (AI) teeth and normal human (NH) teeth in wear properties.

METHODSThe ultrastructure of the human tooth enamel from adult patient diagnosed with AI was investigated using atomic force microscope (AFM) and compared with the surface of normal human tooth enamel. The composition of tooth enamel of AI teeth and normal human teeth were analyzed by energydispersive X-ray spectroscopy (EDX). The properties of micro-friction and wear between AI teeth and normal human teeth were compared using nano-scratch technology and scanning electron microscope (SEM).

RESULTSThe AI teeth were found porosity and the loosely packed hydroxyapatite was distributed randomly compared with normal human teeth. The amount of C was higher while the amount of Ca, P were lower in AI teeth than normal human teeth. The friction coefficient of both AI teeth and normal human teeth was increasing with the load increased and the friction coefficient of AI teeth was higher than normal human teeth with the same load. Meanwhile, the destruction of AI teeth was more severe than normal human teeth with the same load.

CONCLUSIONThe AI teeth has significant differences with normal human teeth on micro-structure, composition and micro-friction and wear properties. Thus, we need to have a general consideration of all these results when doing clinical restorations.

Amelogenesis imperfecta (AI) is a hereditary disease that affects enamel formation. The patients with AI have esthetic and functional problems due to damage of multiple teeth. So most AI patients resolve these problem through the conservative and prosthodontic treatments. In our case, It was difficult to obtain good results in means of conservative and prosthodontic treatments, because the AI patient had skeletal Class III malocclusion. Moreover, because of vertical dimension loss due to severe dental caries and maxillofacial skeletal disharmony, the ordinary prosthodontic treatment was troublesome. So we planned orthognathic surgery to resolve these problems. After the endodontic treatment, temporary restoration was delivered for stable post-operative occlusion. Then orthognathic surgery was done, and final restoration was delivered in stable period. We obtained satisfactory results in esthetic and functional aspects through multidisciplinary management(conservative treatment, prosthodontics and orthognathic surgery).]]>
Amelogenesis Imperfecta ; Amelogenesis ; Dental Caries ; Dental Enamel ; Genetic Diseases, Inborn ; Humans ; Malocclusion ; Orthognathic Surgery ; Prosthodontics ; Tooth ; Vertical Dimension

PURPOSE: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 7- to 35-year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted on 1649 people in Hamadan City, in 2012-2013. The prevalence of four types and 12 subtypes of dental anomalies was evaluated by two observers separately by using panoramic radiography. Dental anomalies were divided into four types: (a) shape (including fusion, taurodontism, and dens invagination); (b) number (including hypodontia, oligodontia, and hyperdontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia); and (d) position (including displacement, impaction, and dilacerations). RESULTS: The reliability between the two observers was 79.56% according to the Kappa statistics. The prevalence of dental anomalies diagnosed by panoramic radiographs was 29%. Anomalies of position and number were the most common types of abnormalities, and anomalies of shape and structure were the least in both genders. Anomalies of impaction (44.76%), dilacerations (21.11%), hypodontia (15.88%), taurodontism (9.29%), and hyperdontia (6.76%) were the most common subtypes of dental anomalies. The anomalies of shape and number were more common in the age groups of 7-12 years and 13-15 years, respectively, while the anomalies of structure and position were more common among the other age groups. CONCLUSION: Anomalies of tooth position were the most common type of dental anomalies, and structure anomalies were the least in this Iranian population. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental anomalies.
Adult* ; Amelogenesis Imperfecta ; Anodontia ; Cross-Sectional Studies ; Dentin ; Dentinogenesis Imperfecta ; Dentition ; Humans ; Iran* ; Prevalence* ; Radiography, Panoramic ; Tooth

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.
Amelogenesis Imperfecta* ; Amelogenesis* ; Cone-Beam Computed Tomography ; Dental Enamel Hypoplasia ; Dental Enamel* ; Dentists ; Fibromatosis, Gingival ; Humans ; Kidney Diseases ; Male ; Metabolic Diseases ; Nephrocalcinosis ; Nephrolithiasis* ; Phenotype ; Radiography ; Tooth ; Young Adult

Amelogenesis imperfecta characterized as abnormally formed enamel is caused by a defect of unique group of genes. Patients affected by this disease might have difficulties in social and psychological aspects due to non-esthetic teeth as well as functional problems caused by enamel detachment and tooth wear from their early ages. Adult patients with amelogenesis imperfecta can be treated with full-mouth restorations, which make functional and esthetic rehabilitations of severely worn tooth. However, the anterior open bite and lack of occlusal clearance for posterior teeth restorations due to compensatory extrusion are the intervening factors in the prosthetic treatment. Therefore, the determination of anterior tooth lengths, vertical dimension, and anterior guidance should be set carefully. Recently, computer-aided design and computer-aided manufacturing (CAD/CAM) techniques help systematic approaches and enable dentists to reduce time-consuming procedures in the diagnosis and treatment of full-mouth rehabilitation. This case report demonstrates the successful full mouth rehabilitation using a CAD/CAM system in a young adult patient with amelogenesis imperfecta and anterior open bite.
Adult ; Amelogenesis Imperfecta* ; Amelogenesis* ; Computer-Aided Design ; Dental Enamel ; Dentists ; Diagnosis ; Humans ; Mouth Rehabilitation ; Open Bite* ; Rehabilitation* ; Tooth ; Tooth Wear ; Vertical Dimension ; Young Adult

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders.
Adult ; Amelogenesis Imperfecta ; genetics ; Cells, Cultured ; China ; Codon ; Dentin ; abnormalities ; ultrastructure ; Female ; Humans ; Male ; Microsatellite Repeats ; Microscopy, Electron, Scanning ; Middle Aged ; Mutation, Missense ; Pedigree ; RNA ; analysis ; Transfection ; Whole Exome Sequencing