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Related Concept Videos

Teeth01:15

Teeth

The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
Tooth Anatomy01:21

Tooth Anatomy

The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Acne Infection01:27

Acne Infection

Acne is a multifactorial skin condition primarily affecting adolescents and young adults, with a global prevalence estimated to exceed 75% in this demographic. The condition is characterized by the formation of comedones (blackheads and whiteheads), papules, pustules, nodules, and, in severe cases, cysts, particularly in areas rich in sebaceous glands such as the face, neck, chest, and back. The pathogenesis involves increased sebum production, follicular hyperkeratinization, colonization by...

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Related Experiment Video

Updated: Jul 15, 2026

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
08:12

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

Published on: March 29, 2018

Amelogenesis imperfecta.

Peter J M Crawford1, Michael Aldred, Agnes Bloch-Zupan

  • 1Paediatric Dentistry, Division of Child Dental Health, Dental School, Lower Maudlin St,, Bristol BS1 2LY, UK. Peter.Crawford@bristol.ac.uk

Orphanet Journal of Rare Diseases
|April 6, 2007
PubMed
Summary

Amelogenesis imperfecta (AI) is a genetic disorder affecting tooth enamel structure and appearance. Early intervention and restorative treatments are crucial for managing this condition throughout a patient's life.

Area of Science:

  • Dentistry
  • Genetics
  • Developmental Biology

Background:

  • Amelogenesis imperfecta (AI) is a group of inherited developmental conditions affecting tooth enamel.
  • It impacts enamel structure and appearance, with prevalence varying significantly across populations.
  • Affected teeth can be discolored, sensitive, or prone to disintegration.

Purpose of the Study:

  • To review the genetic basis, clinical presentation, and management of Amelogenesis imperfecta.
  • To highlight the diagnostic approaches and treatment strategies for AI.
  • To emphasize the importance of early and continuous care for individuals with AI.

Main Methods:

  • Review of existing literature on Amelogenesis imperfecta.
  • Analysis of genetic inheritance patterns (autosomal dominant, recessive, X-linked).

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Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology
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Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology

Published on: August 22, 2022

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  • Clinical observation and diagnostic criteria for AI.
  • Main Results:

    • AI can result from mutations in genes like AMELX and ENAM.
    • Diagnosis relies on family history, pedigree analysis, and clinical examination.
    • Various management strategies exist, from protective crowns in infancy to adhesive restorations in adulthood.

    Conclusions:

    • Amelogenesis imperfecta presents significant challenges but can be managed effectively with early, comprehensive dental care.
    • Genetic diagnosis is currently primarily a research tool.
    • Long-term management requires a multidisciplinary approach addressing functional, aesthetic, and psychosocial aspects.