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1

Ozhgikhina, Natalya, Daria Kiseleva, Evgeny Shagalov, Evgenia Bimbas, and Natalya Myagkova. "Compositional and micromorphological features of hypoplastic enamel in children’s permanent teeth." BIO Web of Conferences 22 (2020): 02013. http://dx.doi.org/10.1051/bioconf/20202202013.

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Анотація:
Enamel hypoplasia is the most common disease of hard tooth tissues of non-carious origin emerging before their eruption. It develops as a result of a delayed and perverse function of ameloblasts leading to the violation of the processes of formation and mineralization of tooth protein structures. The clinical manifestations of enamel hypoplasia are spots, defects in the form of pits, cup-shaped depressions, grooves on various surfaces of child’s teeth. The work is devoted to a comparative investigation of microstructural and compositional features of intact and hypoplastic enamel in children’s
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2

Kim, J. W., F. Seymen, B. P. J. Lin, et al. "ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta." Journal of Dental Research 84, no. 3 (2005): 278–82. http://dx.doi.org/10.1177/154405910508400314.

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Анотація:
To date, 4 unique enamelin gene (ENAM) defects have been identified in kindreds with amelogenesis imperfecta. To improve our understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, we have identified 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel (g.4806A>C, IVS6-2A>C) and 1 previously identified (g.8344delG), and have characterized the resulting enamel phenotypes. The IVS6-2A>C mutation caused a severe enamel phenotype in the proband, exhibiting horizontal grooves of severely hypoplas
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3

Ensor, Bradley E., and Joel D. Irish. "Hypoplastic area method for analyzing dental enamel hypoplasia." American Journal of Physical Anthropology 98, no. 4 (1995): 507–17. http://dx.doi.org/10.1002/ajpa.1330980410.

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4

Ozdemir, D., P. S. Hart, E. Firatli, G. Aren, O. H. Ryu, and T. C. Hart. "Phenotype of ENAM Mutations is Dosage-dependent." Journal of Dental Research 84, no. 11 (2005): 1036–41. http://dx.doi.org/10.1177/154405910508401113.

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Анотація:
Five mutations in the ENAM gene have been found to cause hypoplastic amelogenesis imperfecta (AI), with phenotypes ranging from localized enamel pitting in carriers to severe hypoplastic AI. To determine the generality of ENAM mutations in hypoplastic AI, we sequenced the ENAM gene in ten Turkish families segregating autosomal hypoplastic AI. In two families, ENAM mutations were found. A novel nonsense mutation (g.12663C>A; p.S246X) was identified in one family segregating local hypoplastic AI as a dominant trait. Affected individuals in a second family segregating autosomal-recessive AI we
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5

Veličković, Milica, Sofija Sekulić-Marković, Aleksandar Acović, Snežana Radovanović, and Tatjana Kanjevac. "Non-invasive treatment of multiple enamel hypoplasia: A case report." Medicinski casopis 55, no. 4 (2021): 144–47. http://dx.doi.org/10.5937/mckg55-25392.

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Анотація:
Objective. Enamel hypoplasia is a quantitative disorder of enamel deposition during the secretory phase and is characterised by a deficiency of the enamel, while hypomineralization is a qualitative disorder caused by incomplete mineralization and maturation of the enamel, followed by the porosity of the solid dental tissues and the opalescent tooth colour. Clinically, hypoplasia is a risk for caries, tooth sensitivity, erosion, and affects the aesthetic appearance of a patient with a psychological connotation. The aim of the paper is to present the case report, the possibility of preventive me
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6

Pavlič, Alenka, Polona Škraba, Ladislav Kosec, Milan Petelin, and Satu Alaluusua. "Microhardness and microstructure of deciduous enamel with different types of amelogenesis imperfecta." Open Medicine 2, no. 4 (2007): 511–27. http://dx.doi.org/10.2478/s11536-007-0040-4.

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Анотація:
AbstractAmelogenesis imperfecta (AI) is an inherited tooth disorder with widely varying phenotypes. The aim of this study was to determine the microhardness and microstructure characteristics of the enamel in AI teeth. The AI phenotypes examined were hypoplastic (pitted and smooth form), hypomaturated, and hypocalcified. Six AI patients were diagnosed according to clinical characteristics. The microhardness of the enamel was measured on axial cuts of AI teeth acquired from the patients. The measurements were done on several sites from the enamel surface towards the dentine-enamel junction usin
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7

Puranik, RS, Jose Joy Idiculla, VR Brave, and S. Vanaki. "Enamel Hypoplasia and its Correlation with Dental Caries In School Children of Bagalkot, Karnataka." Journal of Oral Health and Community Dentistry 5, no. 1 (2011): 31–36. http://dx.doi.org/10.5005/johcd-5-1-31.

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Анотація:
ABSTRACT Aim To study the prevalence and correlation of Enamel Hypoplasia and Dental caries among school children aged 6-15 years in Bagalkot, Karnataka. Materials and Methods 5500 school children aged 6-15 years from different schools in Bagalkot were examined with mouth mirror and probe under natural light. The findings were entered into standard examination forms. Results Out of 5500 school children between the age of 6 - 15 years, 507 (9%) had carious teeth with hypoplasia with a mean of 3.1 carious teeth per child. In 5500 children 1987 (41%) had carious teeth without enamel hypoplasia wi
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8

Tomczyk, Jacek, and Agnieszka Ostrowska. "Enamel hypoplasia in a Mesolithic (5900±100 BC) individual from Woźna Wieś (Poland): a case study." Anthropological Review 81, no. 2 (2018): 191–201. http://dx.doi.org/10.2478/anre-2018-0014.

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Анотація:
Abstract Modern anthropological research includes very sophisticated diagnostic methods. They allow us to obtain information that has not been available so far. The aim of this paper is to analyze, using current microscopic technologies, the Mesolithic dental material of one adult individual from Woźna Wieś (Poland). The present case study will focus on the analysis of enamel hypoplasia. A scanning electron microscope (SEM) was used to count the number of perikymata building on the hypoplastic line. Linear enamel hypoplasia (LEH) was diagnosed only on the right mandibular canine. The time of o
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9

Khodaeian, Niloufar, Mahmoud Sabouhi, and Ebrahim Ataei. "An Interdisciplinary Approach for Rehabilitating a Patient with Amelogenesis Imperfecta: A Case Report." Case Reports in Dentistry 2012 (2012): 1–8. http://dx.doi.org/10.1155/2012/432108.

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Анотація:
Amelogenesis imperfecta (AI) has been defined as a group of hereditary enamel defects. It can be characterized by enamel hypoplasia, hypomaturation, or hypocalcification of the teeth. AI may be associated with some other dental and skeletal developmental defects. Restoration for patients with this condition should be oriented toward the functional and esthetic rehabilitation. This clinical report describes the oral rehabilitation of a young patient diagnosed with the hypoplastic type of AI in posterior teeth and hypomatured type of AI in anterior teeth.
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10

Güvercin, Beyhan, Esin Dağ, Gizem Şahin, Kübra Kaynar, and Şükrü Ulusoy. "Beyond the Teeth: Amelogenesis Imperfecta as a Marker of Systemic Disease." Medical Science and Discovery 12, no. 5 (2025): 186–88. https://doi.org/10.36472/msd.v12i5.1289.

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Анотація:
Objective: Amelogenesis Imperfecta (AI) is a genetic disorder affecting enamel formation, with a prevalence ranging from 1:700 to 1:15,000. The hypoplastic type of AI, in particular, may be associated with ectodermal syndromes and metabolic disorders. The co-occurrence of enamel hypoplasia and nephrocalcinosis was first described in 1972. Nephrocalcinosis, characterized by calcium salt deposition in the renal parenchyma, may be asymptomatic or lead to renal impairment. Randall’s plaques, representing early-stage calcification at the renal papillae, play a key role in the pathogenesis of nephro
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11

Koruyucu, M., J. Kang, Y. J. Kim, et al. "Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations." Journal of Dental Research 97, no. 9 (2018): 1064–69. http://dx.doi.org/10.1177/0022034518763152.

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Анотація:
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplas
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12

Wang, Shih-Kai, Hong Zhang, Hua-Chieh Lin, et al. "AMELX Mutations and Genotype–Phenotype Correlation in X-Linked Amelogenesis Imperfecta." International Journal of Molecular Sciences 25, no. 11 (2024): 6132. http://dx.doi.org/10.3390/ijms25116132.

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Анотація:
AMELX mutations cause X-linked amelogenesis imperfecta (AI), known as AI types IE, IIB, and IIC in Witkop’s classification, characterized by hypoplastic (reduced thickness) and/or hypomaturation (reduced hardness) enamel defects. In this study, we conducted whole exome analyses to unravel the disease-causing mutations for six AI families. Splicing assays, immunoblotting, and quantitative RT-PCR were conducted to investigate the molecular and cellular effects of the mutations. Four AMELX pathogenic variants (NM_182680.1:c.2T>C; c.29T>C; c.77del; c.145-1G>A) and a whole gene deletion (N
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13

Wimalarathna, Aruna, Udari Abeyasinghe, Primali Jayasooriya, and Chandra Herath. "Amelogenesis imperfecta: a literature review based guide to diagnosis and management." Journal of Multidisciplinary Dentistry 10, no. 3 (2022): 94–101. http://dx.doi.org/10.46875/jmd.v10i3.532.

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Анотація:
Amelogenesis imperfecta (AI) is a hereditary disorder which alters the enamel formation of the teeth by exhibiting the changes in quality and quantity of the enamel. The varieties of clinical presentations range from hypoplastic, hypomaturation to hypocalcified with the combination of different genetic mutations. It can present in both deciduous and permanent dentitions. The diagnosis of AI depends on clinico-pathological correlation by excluding other structural disorders of enamel such as fluorosis and chronological hypoplasia. Therefore, the knowledge of AI is related to its clinical featur
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14

Kida, M., T. Ariga, T. Shirakawa, H. Oguchi, and Y. Sakiyama. "Autosomal-dominant Hypoplastic Form of Amelogenesis Imperfecta Caused by an Enamelin Gene Mutation at the Exon-Intron Boundary." Journal of Dental Research 81, no. 11 (2002): 738–42. http://dx.doi.org/10.1177/0810738.

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Анотація:
Amelogenesis imperfecta (AI) is currently classified into 14 distinct subtypes based on various phenotypic criteria; however, the gene responsible for each phenotype has not been defined. We performed molecular genetic studies on a Japanese family with a possible autosomal-dominant form of AI. Previous studies have mapped an autosomal-dominant human AI locus to chromosome 4q11-q21, where two candidate genes, ameloblastin and enamelin, are located. We studied AI patients in this family, focusing on these genes, and found a mutation in the enamelin gene. The mutation detected was a heterozygous,
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15

Nelson, Jennifer S. "An examination of the differential susceptibility pattern of the dentition to linear enamel hypoplasia." COMPASS 2, no. 1 (2018): 54–69. http://dx.doi.org/10.29173/comp49.

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Анотація:
Enamel hypoplasia is a dental pathology that forms when an individual is exposed to physiological stress in early life while tooth crowns are developing. Biological anthropologists utilize these enamel defects as indicators of growth interruption and interpret them as reflective of factors pertaining to health status and cultural practices that influence health. Over decades of research, numerous studies have noted a pattern in the distribution of linear enamel hypoplasia across the dentition. It is suggested that the anterior dentition presents the highest frequency of defects, followed by th
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16

Kachti, Soumaya, Manel Chalbi, Soumaya Boussaid, Faten Awled Brahim, and Mohamed Ali Chemli. "Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case Report." OBM Genetics 09, no. 02 (2025): 1–14. https://doi.org/10.21926/obm.genet.2502290.

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Анотація:
X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe, through an 8-year follow-up case report, the clinical approach adopted in managing dental features in both primary and permanent dentition in a child diagnosed with XLHR. The oral manifestations were mainly premature exfoliation of primary teeth with no history of dental caries or trauma, spontane
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17

Hu, J. C. C., and Y. Yamakoshi. "Enamelin and Autosomal-dominant Amelogenesis Imperfecta." Critical Reviews in Oral Biology & Medicine 14, no. 6 (2003): 387–98. http://dx.doi.org/10.1177/154411130301400602.

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Анотація:
Dental enamel forms as a progressively thickening extracellular layer by the action of proteins secreted by ameloblasts. The most abundant enamel protein is amelogenin, which is expressed primarily from a gene on the X-chromosome (AMELX). The two most abundant non-amelogenin enamel proteins are ameloblastin and enamelin, which are expressed from the AMBN and ENAM genes, respectively. The human AMBN and ENAM genes are located on chromosome 4q13.2. The major secretory products of the human AMELX, AMBN, and ENAM genes have 175, 421, and 1103 amino acids, respectively, and are all post-translation
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18

Chatzopoulos, Georgios, and Dimitrios Tziafas. "Molecular Basis of Human Enamel Defects." Balkan Journal of Dental Medicine 18, no. 1 (2014): 5–16. http://dx.doi.org/10.1515/bjdm-2015-0001.

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Анотація:
Abstract During eruption of teeth in the oral cavity, the effect of gene variations and environmental factors can result in morphological and structural changes in teeth. Amelogenesis imperfecta is a failure which is detected on the enamel of the teeth and clinical picture varies by the severity and type of the disease. Classification of the types of amelogenesis imperfecta is determined by histological, genetic, clinical and radiographic criteria. Specifically, there are 4 types of amelogenesis imperfecta (according to Witkop): hypoplastic form, hypo-maturation form, hypo-calcified form, and
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19

Risnes, S. "Ectopic Tooth Enamel. An SEM Study of the Structure of Enamel in Enamel Pearls." Advances in Dental Research 3, no. 2 (1989): 258–64. http://dx.doi.org/10.1177/08959374890030022701.

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Анотація:
Eighteen human molars with enamel pearls ranging in diameter from 0.8 to 2.7 mm were sectioned, acid-etched, and processed for SEM observation. In addition to pearl enamel, the specimens contained crown enamel for comparison. All pearls were of the composite type. The enamel layer reached maximal thicknesses of between 0.3 and 0.7 mm opposite the tip of the dentinal cone. The enamel structure was normal, but more variable and irregular than crown enamel. The prism course was often irregular throughout the whole thickness of enamel. Distinct Hunter-Schreger bands were absent. Prisms and interpr
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20

Hurtado, Paula-Margarita, Fabián Tobar-Tosse, Julio Osorio, Lorena Orozco, and Freddy Moreno. "Amelogenesis imperfecta: Literature review." Revista Estomatología 23, no. 1 (2015): 32–41. http://dx.doi.org/10.25100/re.v23i1.2968.

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Анотація:
Amelogenesis imperfecta (AI) corresponds to a set of hereditary disorders, which affects the enamel development in people. It affects the enamel histological structure, and the clinical appearance of the temporal and permanent teeth. AI is described by several enamel phenotypes, which includes hypoplastic, hypomaturation and hipocalcified. In this paper is presented a literature review about the genetic origin of the AI.
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21

Suga, S. "Enamel Hypomineralization Viewed From the Pattern of Progressive Mineralization of Human and Monkey Developing Enamel." Advances in Dental Research 3, no. 2 (1989): 188–98. http://dx.doi.org/10.1177/08959374890030021901.

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Анотація:
Microradiograms and their computer-aided image analysis of ground sections of the developing enamel of human permanent third molars and monkey permanent teeth (Macaca fuscata) indicate that the mode of progressive mineralization of enamel is completely different between the matrix formation and maturation stages. During the former stage, the enamel matrix is slightly mineralized. During the latter stage, which takes a much longer period than the previous stage, the increase in the secondary mineralization takes place first slightly, from the surface toward the inner layer, and then heavily, fr
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22

Lee, S. K., Z. H. Lee, S. J. Lee, et al. "DLX3 Mutation in a New Family and Its Phenotypic Variations." Journal of Dental Research 87, no. 4 (2008): 354–57. http://dx.doi.org/10.1177/154405910808700402.

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Анотація:
Tricho-dento-osseous syndrome (TDO) is an autosomal-dominant disease characterized by curly hair at birth, enamel hypoplasia, taurodontism, and a thick cortical bone. A common DLX3 gene mutation (c.571_574delGGGG) has been identified in multiple families with variable clinical phenotypes. Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). We identified a Korean family with overlapping phenotypes of TDO and AIHHT. We performed mutational analysis to discover its genetic etiology. The identified mutation was c.561_562del
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23

Kim, J. W., J. P. Simmer, Y. Y. Hu, et al. "Amelogenin p.M1T and p.W4S Mutations Underlying Hypoplastic X-linked Amelogenesis Imperfecta." Journal of Dental Research 83, no. 5 (2004): 378–83. http://dx.doi.org/10.1177/154405910408300505.

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Анотація:
Mutations in the human amelogenin gene (AMELX, Xp22.3) cause a phenotypically diverse set of inherited enamel malformations. We hypothesize that the effects of specific mutations on amelogenin protein structure and expression will correlate with the enamel phenotype, clarify amelogenin structure/function relationships, and improve the clinical diagnosis of X-linked amelogenesis imperfecta (AI). We have identified two kindreds with X-linked AI and characterized the AMELX mutations underlying their AI phenotypes. The two missense mutations are both in exon 2 and affect the translation initiation
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24

Carvalho, LD, JK Bernardon, G. Bruzi, MAC Andrada, and LCC Vieira. "Hypoplastic Enamel Treatment in Permanent Anterior Teeth of a Child." Operative Dentistry 38, no. 4 (2013): 363–68. http://dx.doi.org/10.2341/12-284-t.

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Анотація:
SUMMARYIn some patients with labial white stains involving the enamel and dentin, bleaching associated with a restorative procedure using composites may be an appropriate treatment alternative. Although bleaching makes the teeth and the stain whiter, the staining is less evident and easier to restore. Restorative procedures using adequate composites may then recover the natural optical properties while also providing appropriate mechanical properties, thereby ensuring the longevity of the treatment. In this article, the clinical case of a 9-year-old patient who reported dissatisfaction with he
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25

Mosannen Mozaffari, Pegah, Salehe Sekandari, and Fateme Sekandari. "Hypoplastic Amelogenesis Imperfecta type GI (enamel agenesis): a case report." journal of research in dental sciences 19, no. 2 (2022): 165–73. http://dx.doi.org/10.52547/jrds.19.2.165.

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26

Zheng, Shu-Guo, Hui Deng, Xue-Jun Gao, and Cai-Fang Cao. "Chemical Composition and Crystalline Structure of Hypoplastic Primary Dental Enamel." International Journal of Oral-Medical Sciences 1, no. 1 (2002): 17–22. http://dx.doi.org/10.5466/ijoms.1.17.

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27

Salaymeh, Jamal K., Jimmy Erkens, Esme Beamish, W. Scott McGraw, Debbie Guatelli-Steinberg, and Kate McGrath. "A histological study of enamel developmental defects in a chacma baboon (Papio ursinus) incisor." Dental Anthropology Journal 36, no. 2 (2023): 3–14. http://dx.doi.org/10.26575/daj.v36i2.351.

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Анотація:
Physiological stress disrupts normal growth creating visible grooves on the enamel surface (i.e., linear enamel hypoplasia or LEH). Hypoplastic defects often, but not always, co-occur with internal accentuated lines (AL). Monkeys reportedly exhibit fewer enamel defects than hominoids as their presumably faster-growing teeth produce shallower LEH defects that are harder to macroscopically identify. In this case study of a chacma baboon (Papio ursinus) incisor, we assessed whether AL are matched by LEH defects; how enamel extension rates and striae angles relate to the surface distribution of LE
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28

Acosta-de Camargo, Maria Gabriela, Alfredo Enrique Natera-Guarapo, and John Mangles†. "Clinical management of Hypoplasic Amelogenesis Imperfecta: a challenge for multidisciplinary team. A case report." Revista Facultad de Odontología 33, no. 1 (2021): 122–32. http://dx.doi.org/10.17533/udea.rfo.v33n1a10.

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Анотація:
Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and are passed down through families. Hypoplasic AI phenotypes include the absence of enamel as a result of a defect in the secretory stage. This case report describes the diagnosis and treatment of a patient with hypoplastic AI. The clinical implications include sensitive teeth, functional problems, and aesthetic complaining. The diagnosis was done through history, clinical examination and imaging. The intervention was performed by Direct Resin Veneers. This treatment showed to improve occl
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29

Flottes, Yohann, Eléonore Valleron, Bruno Gogly, Claudine Wulfman, and Elisabeth Dursun. "Full-Mouth Rehabilitation of a 15-Year-Old Girl Affected by a Rare Hypoparathyroidism (Glial Cell Missing Homolog 2 Mutation): A 3-Year Follow-Up." Dentistry Journal 12, no. 5 (2024): 130. http://dx.doi.org/10.3390/dj12050130.

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Анотація:
Objective: Familial isolated hypoparathyroidism is a rare genetic disorder due to no or low production of the parathyroid hormone, disturbing calcium and phosphate regulation. The resulting hypocalcemia may lead to dental abnormalities, such as enamel hypoplasia. The aim of this paper was to describe the full-mouth rehabilitation of a 15-year-old girl with chronic hypocalcemia due to a rare congenital hypoparathyroidism. Clinical considerations: In this patient, in the young adult dentition, conservative care was preferred. Onlays or stainless-steel crowns were performed on the posterior teeth
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30

Karsten, Jordan K., Sarah E. Heins, Gwyn D. Madden, and Mykhailo P. Sokhatskyi. "The Biological Implications of the Transition to Agriculture in Ukraine: A Study of Enamel Hypoplasias." Dental Anthropology Journal 27, no. 1-2 (2018): 16–25. http://dx.doi.org/10.26575/daj.v27i1-2.40.

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Анотація:
The Tripolye were the first archaeo-logical culture in Ukraine to cultivate domesticat-ed cereals, practice animal husbandry, and establish large settlements with high population densities. This cultural adaptation was much different than that of mobile hunter-fisher-gatherers of the Ukrainian Mesolithic/Neolithic, and likely resulted in different outcomes for human health. This study compares the rates of enamel hypoplasias in a Tripolye skeletal population with that of Mesolithic/Neolithic hunter-fisher-gatherers. A recently excavated sample of dentitions representing a minimum of 35 individ
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31

Gaião, Ubiracy, Ana Carolina Portes Pasmadjian, Gabriela Resende Allig, Liliana Vicente Melo de Lucas Rezende, Vitória Beatriz Souza da Silva, and Leonardo Fernandes da Cunha. "Macroabrasion and/or Partial Veneers: Techniques for the Removal of Localized White Spots." Case Reports in Dentistry 2022 (February 10, 2022): 1–6. http://dx.doi.org/10.1155/2022/3941488.

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Анотація:
Macroabrasion is a technique for the removal of localized white spots using a high-speed, intermittent high speed turbine finishing diamond tip. It is fast, safe, efficient, and an alternative to enamel microabrasion. However, when the stain is deeper, these localized intrinsic stains or defects can be treated with partial direct veneers. A conservative preparation should be done and that allows stratification of the resin to mask the hypoplasia and provide naturalness to the tooth. Thus, the objective of this work is to demonstrate, through a clinical case, macroabrasion and a partial veneer
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32

Caterina, John J., Ziedonis Skobe, Joanne Shi, et al. "Enamelysin (Matrix Metalloproteinase 20)-deficient Mice Display an Amelogenesis Imperfecta Phenotype." Journal of Biological Chemistry 277, no. 51 (2002): 49598–604. http://dx.doi.org/10.1074/jbc.m209100200.

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Enamelysin is a tooth-specific matrix metalloproteinase that is expressed during the early through middle stages of enamel development. The enamel matrix proteins amelogenin, ameloblastin, and enamelin are also expressed during this same approximate developmental time period, suggesting that enamelysin may play a role in their hydrolysis. In support of this interpretation, recombinant enamelysin was previously demonstrated to cleave recombinant amelogenin at virtually all of the precise sites known to occurin vivo. Thus, enamelysin is likely an important amelogenin-processing enzyme. To charac
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33

Kierdorf, U., and H. Kierdorf. "A Scanning Electron Microscopic Study on Surface Lesions in Fluorosed Enamel of Roe Deer (Capreolus capreolus L.)." Veterinary Pathology 26, no. 3 (1989): 209–15. http://dx.doi.org/10.1177/030098588902600304.

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Scanning electron microscopy of surface enamel lesions in fluorosed permanent premolars and molars of free-ranging Roe deer revealed two types of pits. Post-eruptive lesions that resulted from mechanical stress on hypomineralized enamel during mastication were characterized by steep walls and a typical honeycomb structure on their bottom, a result of fracture of enamel rods; holes left by fractured rods were surrounded by interred enamel. Pits of developmental origin (hypoplasias), either as shallow depressions of enamel surfaces or narrow holes running deep into the enamel, were characterized
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34

Kim, Youn Jung, Yejin Lee, Hong Zhang, et al. "Translational Attenuation by an Intron Retention in the 5′ UTR of ENAM Causes Amelogenesis Imperfecta." Biomedicines 9, no. 5 (2021): 456. http://dx.doi.org/10.3390/biomedicines9050456.

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Amelogenesis imperfecta (AI) is a collection of rare genetic conditions affecting tooth enamel. The affected enamel can be of insufficient quantity and/or altered quality, impacting structural content, surface integrity and coloration. Heterozygous mutations in ENAM result in hypoplastic AI without other syndromic phenotypes, with variable expressivity and reduced penetrance, unlike other AI-associated genes. In this study, we recruited a Caucasian family with hypoplastic AI. Mutational analysis (using whole exome sequencing) revealed a splicing donor site mutation (NM_031889.3: c. −61 + 1G &g
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35

Lovell, Nancy C., and Leslie Dawson. "Intra-and Inter-tooth Analysis of Hypoplastic and Hypocalcified Enamel Defects." Journal of Human Ecology 14, no. 4 (2003): 241–48. http://dx.doi.org/10.1080/09709274.2003.11905619.

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36

Mahoney, Erin, F. Shaira M. Ismail, Nicky Kilpatrick, and Michael Swain. "Mechanical properties across hypomineralized/hypoplastic enamel of first permanent molar teeth." European Journal of Oral Sciences 112, no. 6 (2004): 497–502. http://dx.doi.org/10.1111/j.1600-0722.2004.00162.x.

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37

Suckling, G. W., D. G. A. Nelson, and M. J. Patel. "Macroscopic and Scanning Electron Microscopic Appearance and Hardness Values of Developmental Defects in Human Permanent Tooth Enamel." Advances in Dental Research 3, no. 2 (1989): 219–33. http://dx.doi.org/10.1177/08959374890030022301.

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Defects present in 12 human permanent teeth were classified on the basis of their macroscopic appearance as hypoplasia (three teeth), diffuse opacities (three teeth), white demarcated opacities (one tooth but two defects), or yellow demarcated opacities (five teeth but six defects). The hardness values and SEM appearance of the defective enamel were determined after the teeth were sectioned through the lesion(s) and were distinctive for each type of defect. The thin enamel of the hypoplastic lesions was either opaque (with reduced hardness values) or translucent (with near-normal hardness valu
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38

Freitas, Claudio Froes, Thásia Luiz Dias Ferreira, and Jurandyr Panella. "Odontodisplasia – caso familiar raro." Revista de Odontologia da Universidade Cidade de São Paulo 23, no. 3 (2017): 278. http://dx.doi.org/10.26843/ro_unicid.v23i3.388.

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Odontodysplasia is considered a rare dental development anomaly, which leads to enamel and dentin hypoplasia of the affected teeth, whose etiology is still uncertain and broadly discussed. At the clinical exam, the teeth with odontodysplasia are usually shorter than those of normality standards, with irregular crown shape and form, with hypoplastic, yellow or pigmented external surface. The radiographic aspect depends on the stage the anomalous tooth is x-rayed, given the different evolutional stages of the mineralization process; however, in general, there is a significant reduction in the ra
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39

Seymen, Figen, and Basak Kiziltan. "Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study." Journal of Clinical Pediatric Dentistry 26, no. 4 (2002): 327–35. http://dx.doi.org/10.17796/jcpd.26.4.3348743513089434.

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Amelogenesis imperfecta (AI) is a hereditary defect in enamel formation affecting both primary and permanent dentition. Scanning electron microscopic investigation is one of the most effective methods in diagnosing and identifying the type of amelogenesis imperfecta. The aim of this study was to investigate the ultrastructure of different types of amelogenesis imperfecta enamel. The primary teeth of three children with AI aged 4, 10 and 11-years-old were studied by scanning electron microscopy and irregular enamel, irregularities in enamel crystallites, hypoplastic areas on the enamel surface
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40

Salma, Putri Widyanti, Andrew Emmanuel, and Tantiana. "The effect of Vitamin D deficiency on the occurrence of enamel hypoplasia in babies: A review article." World Journal of Advanced Research and Reviews 21, no. 2 (2024): 2019–26. https://doi.org/10.5281/zenodo.14043885.

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<strong>Background:</strong>&nbsp;Vitamin D is a steroid prohormone that can be obtained primarily from exposure to sunlight and can also be obtained from food or supplements. Vitamin D has an important role in various metabolisms and developments in the human body, including in the process of odontogenesis or tooth development. Vitamin D deficiency can be associated with various problems in the oral cavity, in this case it has the potential to trigger enamel hypoplasia. Enamel hypoplasia is a quantitative defect in enamel, which appears as pits, grooves, missing enamel or smaller teeth. This
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41

Hillson, S. W. "Dental Enamel Growth, Perikymata and Hypoplasia in Ancient Tooth Crowns." Journal of the Royal Society of Medicine 85, no. 8 (1992): 460–66. http://dx.doi.org/10.1177/014107689208500813.

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This paper describes the hypoplastic defects commonly seen on the surface of ancient human tooth crowns, excavated from archaeological sites, and presents a new method for estimating the ages at which these defects were initiated during life. The method is based upon examination of microscopic incremental structures on the enamel surface and it is possible also to apply it to reconstruction of the sequence and timing of dental crown development. The method of examination is non-destructive and allows full use to be made of the large numbers of complete, unworn dentitions which are found amongs
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42

Witzel, C., U. Kierdorf, M. Schultz, and H. Kierdorf. "Insights from the inside: Histological analysis of abnormal enamel microstructure associated with hypoplastic enamel defects in human teeth." American Journal of Physical Anthropology 136, no. 4 (2008): 400–414. http://dx.doi.org/10.1002/ajpa.20822.

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43

Prasad, M. K., S. Laouina, M. El Alloussi, H. Dollfus, and A. Bloch-Zupan. "Amelogenesis Imperfecta." Journal of Dental Research 95, no. 13 (2016): 1457–63. http://dx.doi.org/10.1177/0022034516663200.

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Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C&gt;T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hy
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44

Wright, J. Timothy, Colin Robinson, and Roger Shore. "Characterization of the enamel ultrastructure and mineral content in hypoplastic amelogenesis imperfecta." Oral Surgery, Oral Medicine, Oral Pathology 72, no. 5 (1991): 594–601. http://dx.doi.org/10.1016/0030-4220(91)90499-3.

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45

Brook, Alan H., and Joyce M. Smith. "Hypoplastic enamel defects and environmental stress in a homogeneous Romano-British population." European Journal of Oral Sciences 114, s1 (2006): 370–74. http://dx.doi.org/10.1111/j.1600-0722.2006.00306.x.

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46

Meenu, Mittal, and Sandhu Sharnpal. "Clinical management of hypoplastic defects of enamel- A report of five cases." Journal of Pierre Fauchard Academy (India Section) 23, no. 4 (2009): 155–59. http://dx.doi.org/10.1016/s0970-2199(09)34007-2.

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47

Gopinath, V., K. Al –Salihi, Chan Yean Yean, Melissa Chan Li Ann, and M. Ravichandran. "Amelogenesis imperfecta: enamel ultra structure and molecular studies." Journal of Clinical Pediatric Dentistry 28, no. 4 (2004): 319–22. http://dx.doi.org/10.17796/jcpd.28.4.27733r6m51851652.

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Анотація:
Amelogenesis imperfecta (AI) is a hereditary disorder resulting in generalized defects in the enamel.The case reported here is of a seven-year-old male child with yellow color of all his teeth.Two of his primary molars were extracted due to dental abscess with advanced root resorption. Histologically hypoplastic enamel layer, positively birefringent, generalized pitting, roughness with irregular general cracked borders were observed. Scanning electron microscope, revealed extensive irregular, disorganized rough superficial enamel layer.The enamel was irregularly decussate with filamentous pris
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48

Mudgade, Deepjyoti, Himanshu M. Srivastava, Sameera M. R. Qureshi, and Amit Handa. "Rickets – A case report." Journal of Oral and Maxillofacial Pathology 27, no. 4 (2023): 781. http://dx.doi.org/10.4103/jomfp.jomfp_233_23.

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Rickets is a disorder caused by a lack of vitamin D, calcium or phosphate. It leads to softening and weakening of the bones. Dental manifestation of rickets includes enamel hypoplasia and delayed tooth eruption. The most important oral findings are characterised by spontaneous gingival and dental abscesses occurring without a history of trauma or caries. Radiographic examination revealed large pulp chambers, short roots, poorly defined lamina dura and hypoplastic alveolar ridge. These dental abscesses are common, and therefore, extraction and pulpectomy are the treatment of choice. Oral manife
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49

Kim, Young-Jae, Teo J. Shin, Hong-Keun Hyun, Sang-Hoon Lee, Zang H. Lee, and Jung-Wook Kim. "A novel de novo mutation inLAMB3causes localized hypoplastic enamel in the molar region." European Journal of Oral Sciences 124, no. 4 (2016): 403–5. http://dx.doi.org/10.1111/eos.12280.

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50

Takeda, Yasunori, Mitsunobu Itagaki, and Kanji Ishibashi. "Hypoplastic-hypocalcified enamel of teeth and dysplastic nails: An undescribed ectodermal dysplasia syndrome." International Journal of Oral and Maxillofacial Surgery 18, no. 2 (1989): 73–75. http://dx.doi.org/10.1016/s0901-5027(89)80132-8.

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