A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
The elaboration of dental enamel by ameloblasts, beginning with its participation in the formation of the dentino-enamel junction to the production of the matrix for the enamel prisms and interprismatic substance. (Jablonski, Dictionary of Dentistry, 1992).
The proteins that are part of the dental enamel matrix.
A secreted matrix metalloproteinase that is the predominant proteolytic activity in the enamel matrix. The enzyme has a high specificity for dental enamel matrix protein AMELOGENIN.
An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors.
A major dental enamel-forming protein found in mammals. In humans the protein is encoded by GENES found on both the X CHROMOSOME and the Y CHROMOSOME.
A hard thin translucent layer of calcified substance which envelops and protects the dentin of the crown of the tooth. It is the hardest substance in the body and is almost entirely composed of calcium salts. Under the microscope, it is composed of thin rods (enamel prisms) held together by cementing substance, and surrounded by an enamel sheath. (From Jablonski, Dictionary of Dentistry, 1992, p286)
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
Cylindrical epithelial cells in the innermost layer of the ENAMEL ORGAN. Their functions include contribution to the development of the dentinoenamel junction by the deposition of a layer of the matrix, thus producing the foundation for the prisms (the structural units of the DENTAL ENAMEL), and production of the matrix for the enamel prisms and interprismatic substance. (From Jablonski's Dictionary of Dentistry, 1992)
Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)
The process whereby calcium salts are deposited in the dental enamel. The process is normal in the development of bones and teeth. (Boucher's Clinical Dental Terminology, 4th ed, p43)
One of a set of bone-like structures in the mouth used for biting and chewing.
Any of the eight frontal teeth (four maxillary and four mandibular) having a sharp incisal edge for cutting food and a single root, which occurs in man both as a deciduous and a permanent tooth. (Jablonski, Dictionary of Dentistry, 1992, p820)
A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)
Congenital absence of or defects in structures of the teeth.
The teeth of the first dentition, which are shed and replaced by the permanent teeth.
Epithelial cells surrounding the dental papilla and differentiated into three layers: the inner enamel epithelium, consisting of ameloblasts which eventually form the enamel, and the enamel pulp and external enamel epithelium, both of which atrophy and disappear before and upon eruption of the tooth, respectively.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Genes that influence the PHENOTYPE only in the homozygous state.
Proteolytic enzymes from the serine endopeptidase family found in normal blood and urine. Specifically, Kallikreins are potent vasodilators and hypotensives and increase vascular permeability and affect smooth muscle. They act as infertility agents in men. Three forms are recognized, PLASMA KALLIKREIN (EC 3.4.21.34), TISSUE KALLIKREIN (EC 3.4.21.35), and PROSTATE-SPECIFIC ANTIGEN (EC 3.4.21.77).
Microscopy in which the object is examined directly by an electron beam scanning the specimen point-by-point. The image is constructed by detecting the products of specimen interactions that are projected above the plane of the sample, such as backscattered electrons. Although SCANNING TRANSMISSION ELECTRON MICROSCOPY also scans the specimen point by point with the electron beam, the image is constructed by detecting the electrons, or their interaction products that are transmitted through the sample plane, so that is a form of TRANSMISSION ELECTRON MICROSCOPY.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Unusual indelible enamel staining following fixed appliance treatment. (1/76)

Two cases are described of indelible enamel staining following fixed appliance therapy. The acquired pigmentation occurred in patients with an identifiable enamel defect prior to treatment. The interaction of factors to cause the staining is discussed and it's prevention in future cases highlighted. Subsequent restoration of the affected teeth is shown.  (+info)

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. (2/76)

Dental enamel is the hardest tissue in the body and cannot be replaced or repaired, because the enamel secreting cells are lost at tooth eruption. X-linked amelogenesis imperfecta (MIM 301200), a phenotypically diverse hereditary disorder affecting enamel development, is caused by deletions or point mutations in the human X-chromosomal amelogenin gene. Although the precise functions of the amelogenin proteins in enamel formation are not well defined, these proteins constitute 90% of the enamel organic matrix. We have disrupted the amelogenin locus to generate amelogenin null mice, which display distinctly abnormal teeth as early as 2 weeks of age with chalky-white discoloration. Microradiography revealed broken tips of incisors and molars and scanning electron microscopy analysis indicated disorganized hypoplastic enamel. The amelogenin null phenotype reveals that the amelogenins are apparently not required for initiation of mineral crystal formation but rather for the organization of crystal pattern and regulation of enamel thickness. These null mice will be useful for understanding the functions of amelogenin proteins during enamel formation and for developing therapeutic approaches for treating this developmental defect that affects the enamel.  (+info)

A case of amelogenesis imperfecta of deciduous and all permanent teeth. (3/76)

We experienced a case with severe enamel defects of both the deciduous teeth and all the permanent teeth. In order to clarify the etiology of enamel defects in this patient, we performed a DNA analysis in addition to conventional examinations. Although we suspected a variety of systemic factors causing enamel defects, there was no evidence suggesting disturbances of amelogenesis. In the present case, we suspected a mutation in the amelogenin gene and performed nucleotide sequencing of the exons of the amelogenin gene, but we could not find any evidence of mutation. We suggest that a mutation of some other gene related to enamel formation or the adventitious factors contributed to the amelogenesis imperfecta in this case.  (+info)

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (4/76)

Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11-q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11-q21, these findings highlight the need for a molecular classification of this group of disorders.  (+info)

Dental enamel formation and its impact on clinical dentistry. (5/76)

The nature of tooth enamel is of inherent interest to dental professionals. The current-day clinical practice of dentistry involves the prevention of enamel demineralization, the promotion of enamel remineralization, the restoration of cavitated enamel where demineralization has become irreversible, the vital bleaching of dental enamel that has become discolored, and the diagnosis and treatment of developmental enamel malformations, which can be caused by environmental or genetic factors. On a daily basis, dental health providers make diagnostic and treatment decisions that are influenced by their understanding of tooth formation. A systemic condition during tooth development, such as high fever, can produce a pattern of enamel defects in the dentition. Knowing the timing of tooth development permits estimates about the timing of the disturbance. The process of enamel maturation continues following tooth eruption, so that erupted teeth can become less susceptible to decay over time. Mutations in the genes encoding enamel proteins lead to amelogenesis imperfecta, a collection of inherited diseases having enamel malformations as the predominant phenotype. Defects in the amelogenin gene cause X-linked amelogenesis imperfecta, and genes encoding other enamel proteins are candidates for autosomal forms. Here we review our current understanding of dental enamel formation, and relate this information to clinical circumstances where this understanding may be particularly relevant.  (+info)

Genetic mutations in certain head and neck conditions of interest to the dentist. (6/76)

This article identifies certain syndromes of the head and neck, which a dentist may see in clinical practice, and relates these syndromes to their sites of mutation on involved genes. This paper is timely with the near completion of the Human Genome Project, the mapping of the entire human genetic material. Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments.  (+info)

Altered amelogenin self-assembly based on mutations observed in human X-linked amelogenesis imperfecta (AIH1). (7/76)

A hallmark of biological systems is a reliance on protein assemblies to perform complex functions. We have focused attention on mammalian enamel formation because it relies on a self-assembling protein complex to direct mineral habit. The principle protein of enamel is amelogenin, a 180-amino acid hydrophobic protein that self-assembles to form nanospheres. We have used independent technical methods, consisting of the yeast two-hybrid (Y2H) assay and surface plasmon resonance (SPR), to demonstrate the importance of amelogenin self-assembly domains. In addition, we have analyzed mutations in amelogenin observed in patients with amelogenesis imperfecta who demonstrate defects in enamel formation. Assessments of self-assembly of these mutant amelogenins by either SPR or Y2H assay yield concordant data. These data support the conclusion that the amelogenin amino-terminal self-assembly domain is essential to the creation of an enamel extracellular organic matrix capable of directing mineral formation. It also suggests that a pathway through which point mutations in the amelogenin protein can adversely impact on the formation of the enamel organ is by disturbing self-assembly of the organic matrix. These data support the utilization of the Y2H assay to search for protein interactions among extracellular matrix proteins that contribute to biomineralization and provide functional information on protein-protein and protein-mineral interactions.  (+info)

Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation. (8/76)

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.  (+info)

1. Sensitive teeth: Teeth with AI may be sensitive to hot or cold temperatures due to the lack of enamel.
2. Tooth decay: Without adequate enamel, teeth with AI are more susceptible to decay.
3. Discolored teeth: Teeth with AI may appear grayish, yellowish, or brownish due to the defective enamel.
4. Difficulty chewing: Depending on the severity of the condition, people with AI may experience difficulty chewing or biting due to the sensitive teeth.
5. Aesthetic concerns: The discoloration and irregular shape of teeth can cause self-esteem issues and affect the overall appearance of the smile.
6. Dental problems: Teeth with AI are more prone to dental problems such as cavities, gum disease, and tooth loss.
7. Speech difficulties: In severe cases, AI can affect the development of the palate and cause speech difficulties.
8. Jaw pain: The improper alignment of teeth can lead to jaw pain and temporomandibular joint (TMJ) disorders.
9. Increased risk of oral infections: The lack of enamel can make teeth more susceptible to bacterial infections.
10. Dental anxiety: People with AI may experience dental anxiety due to the fear of undergoing dental procedures or the stigma associated with the condition.

There is no cure for AI, but various treatments can help manage the symptoms and prevent complications. These may include fluoride applications, dental fillings, crowns, and other restorative procedures to protect the teeth and improve their appearance. In some cases, orthodontic treatment or oral surgery may be necessary to correct bite problems and improve jaw alignment.

The most common symptoms of dental enamel hypoplasia are yellow or brown discoloration of the teeth, sensitivity to hot or cold foods and drinks, and an increased risk of cavities.

Treatment for dental enamel hypoplasia typically involves restorative procedures such as fillings, crowns, or veneers to repair and protect the affected teeth. In severe cases, extraction of the damaged teeth may be necessary. Preventive measures such as good oral hygiene practices, a balanced diet, and avoiding harmful substances like tobacco and excessive sugars can also help manage the condition.

Early detection and treatment of dental enamel hypoplasia are crucial to prevent further damage and improve the appearance and function of the teeth. Dentists may use specialized techniques such as radiographs and clinical examinations to diagnose this condition and recommend appropriate treatments.

1. Bone fractures: The most common symptom of OI is an increased risk of fractures, which can occur with minimal trauma or even without any apparent cause.
2. Dental problems: People with OI may have poorly formed teeth, tooth decay, and gum disease.
3. Short stature: Many individuals with OI are short in stature, due to the effects of chronic fractures and pain on growth and development.
4. Muscle weakness: Some people with OI may experience muscle weakness, particularly in the limbs.
5. Joint problems: OI can cause issues with joint mobility and stability, leading to arthritis and other degenerative conditions.
6. Scoliosis: Curvature of the spine is common in people with OI, which can lead to back pain and respiratory problems.
7. Blue sclerae: A distinctive feature of OI is the presence of blue-colored sclerae (the white part of the eye).
8. Other symptoms: Some people with OI may experience hearing loss, vision problems, and delayed development.

There are several types of OI, each caused by a mutation in a specific gene. The most common forms of OI are type I, type II, and type III. Type I is the mildest form and type III is the most severe. There is no cure for OI, but treatment focuses on managing symptoms and preventing complications. This may include:

1. Bracing and orthotics: To support weakened bones and improve posture.
2. Physical therapy: To maintain muscle strength and flexibility.
3. Pain management: To reduce the risk of chronic pain and improve quality of life.
4. Dental care: Regular dental check-ups and appropriate treatment to prevent tooth decay and gum disease.
5. Respiratory care: To manage breathing problems and prevent respiratory infections.
6. Monitoring for hearing loss: Regular hearing tests to detect any hearing loss and provide appropriate intervention.
7. Early intervention: To help children with OI develop skills and abilities to their full potential.
8. Genetic counseling: For families with a history of OI, to understand the risks and implications for future pregnancies.

It's important for people with OI to work closely with their healthcare provider to manage their condition and prevent complications. With proper care and support, many people with OI can lead active and fulfilling lives.

There are several types of tooth discoloration, including:

1. Extrinsic stains: These are the most common type of tooth discoloration and are caused by factors such as coffee, tea, red wine, and smoking. These stains can be removed with professional cleaning and whitening treatments.
2. Intrinsic stains: These are deeper stains that occur within the tooth itself and can be caused by factors such as fluorosis, tetracycline staining, and overexposure to fluoride during childhood. These stains can be more difficult to remove and may require more advanced treatments such as porcelain veneers or teeth whitening.
3. Age-related discoloration: As we age, our teeth can become naturally more yellow due to the accumulation of calcium and other minerals on the surface of the teeth. This type of discoloration is more common in adults over the age of 40.
4. Trauma: A blow to the mouth or a injury to a tooth can cause discoloration.
5. Disease: Certain medical conditions such as bruxism, gum disease, and enamel defects can also cause tooth discoloration.

Tooth discoloration can be treated with various methods such as teeth whitening, dental bonding, porcelain veneers, and crowns. The choice of treatment depends on the severity and cause of the discoloration. It is important to consult a dentist if you notice any changes in the color of your teeth, as early diagnosis and treatment can help prevent further damage and improve the appearance of your smile.

An open bite can lead to a range of dental problems, including:

* Tooth wear: The excessive wear on the upper and lower teeth can cause them to become weakened and sensitive.
* Gum recession: The continuous pressure on the gums can cause them to recede, exposing the roots of the teeth and increasing the risk of decay and sensitivity.
* Bone loss: The chronic open bite can lead to bone loss in the jaw, which can eventually result in a weakened jaw structure and an altered facial appearance.
* Difficulty chewing and biting food: An open bite can make it challenging to eat certain foods, leading to digestive problems and nutritional deficiencies.
* Aesthetic concerns: An open bite can also affect the appearance of the teeth and face, potentially leading to low self-esteem and confidence issues.

Treatment for an open bite usually involves a combination of orthodontic and restorative dental procedures, such as braces, Invisalign, or dental fillings to correct the alignment of the teeth and close the gap. Surgical options may also be considered in severe cases where the jaw structure needs to be realigned.

It is essential to seek professional dental care if you suspect that you have an open bite, as early treatment can help prevent more significant problems from developing and improve your overall oral health and well-being.

There are two types of tooth resorption:

1. External resorption: This type occurs when the resorption takes place on the surface of the tooth, and is usually caused by an infection or injury.
2. Internal resorption: This type occurs when the resorption takes place within the tooth structure, and can be caused by factors such as a crack or a cavity.

Symptoms of tooth resorption may include sensitivity to hot or cold foods and drinks, pain when biting down, and visible holes or pits on the surface of the tooth. Treatment options for tooth resorption depend on the severity of the condition and can range from fillings to root canal therapy or extraction.

Prevention is key in avoiding tooth resorption, by maintaining good oral hygiene practices such as brushing and flossing regularly, avoiding sugary foods and drinks, and visiting a dentist for regular check-ups. Early detection and treatment can help prevent further damage and save the tooth from being lost.

In conclusion, tooth resorption is a process where the body breaks down and reabsorbs the dentin layer of the tooth, leading to sensitivity, pain, and potentially significant damage to the tooth structure. It can be treated with various methods depending on its severity, but prevention through good oral hygiene practices and regular check-ups is key in avoiding this condition altogether.

1. Congenital abnormalities: These are present at birth and may be caused by genetic factors or environmental influences during fetal development. Examples include hypodontia (absence of one or more teeth), hyperdontia (extra teeth), or anodontia (absence of all teeth).
2. Acquired abnormalities: These can occur at any time during life, often as a result of trauma, infection, or other conditions. Examples include tooth decay, gum disease, or tooth wear and tear.
3. Developmental abnormalities: These occur during the development of teeth and may be caused by genetic factors, nutritional deficiencies, or exposure to certain medications or chemicals. Examples include enamel hypoplasia (thinning of tooth enamel) or peg-shaped teeth.
4. Structural abnormalities: These are irregularities in the shape or structure of teeth, such as anomalies in the size, shape, or position of teeth. Examples include crowded or misaligned teeth, or teeth that do not erupt properly.
5. Dental caries (tooth decay): This is a bacterial infection that causes the breakdown of tooth structure, often leading to cavities and tooth loss if left untreated.
6. Periodontal disease: This is an inflammatory condition that affects the supporting tissues of teeth, including the gums and bone, and can lead to tooth loss if left untreated.
7. Tooth wear: This refers to the wear and tear of teeth over time, often due to habits such as bruxism (teeth grinding) or acid reflux.
8. Dental anomalies: These are rare, genetic conditions that affect the development and structure of teeth, such as peg-shaped teeth or geminated teeth (two teeth fused together).

These are just a few examples of tooth abnormalities, and there are many more conditions that can affect the health and appearance of teeth. Regular dental check-ups can help detect and address any issues early on to ensure good oral health.

... as a result of abnormal enamel formation via amelogenesis. People with amelogenesis imperfecta may have teeth with abnormal ... The prevalence of amelogenesis imperfecta in non-human animals has not been explored, however its presence has been noted. This ... Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel or external ... A manifestation of amelogenesis imperfecta known as "snow capping" is confined to the outer prismless enamel layer. It may ...
AmelogenesisAmelogenesis imperfecta • Amelogenin • American Academy of Cosmetic Dentistry • American Academy of ... Dentinogenesis imperfecta • Dentistry • Dentistry Magazine • Dentistry throughout the world • Dentition • Dentition analysis • ...
Mutations in AMBN cause amelogenesis imperfecta, a disease characterized by abnormal enamel formation resulting in discolored, ... April 1997). "Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at ... October 2014). "Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta". Human Molecular Genetics. 23 (20 ... "Enamel formation and amelogenesis imperfecta". Cells Tissues Organs. 186 (1): 78-85. doi:10.1159/000102683. PMID 17627121. ...
FAM83H Amelogenesis imperfecta, type IB; 104500; ENAM Amelogenesis imperfecta, type IC; 204650; ENAM Amelogenesis imperfecta, ... AD5 Amelogenesis imperfecta, hypomaturation type, IIA3; 613211; WDR72 Amelogenesis imperfecta, hypomaturation-hypoplastic type ... DLX3 Amelogenesis imperfecta, hypoplastic/hypomaturation type; 301200; AMELX Amelogenesis imperfecta, type 3; 130900; ... ACAN Osteogenesis imperfecta, type I; 166200; COL1A1 Osteogenesis imperfecta, type II; 166210; COL1A2 Osteogenesis imperfecta, ...
"Entrez Gene: amelogenin (amelogenesis imperfecta 1". "AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm ... Mutations in AMELX result in amelogenesis imperfecta. It has been shown that mice with a knocked-out AMELX gene will present ... Hart PS, Hart TC, Simmer JP, Wright JT (Apr 2002). "A nomenclature for X-linked amelogenesis imperfecta". Archives of Oral ... Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT (Apr 2002). "Amelogenesis imperfecta phenotype-genotype ...
Ameloblastin Amelogenin Amelogenesis Amelogenesis imperfecta GRCh38: Ensembl release 89: ENSG00000132464 - Ensembl, May 2017 ... Mutations in the ENAM gene can cause certain subtypes of amelogenesis imperfecta (AI), a heterogenous group of heritable ... Hu JC, Yamakoshi Y (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Critical Reviews in Oral Biology and ... December 2003). "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects ...
Mutations in enamel ECM proteins result in enamel defects such as amelogenesis imperfecta. Type-I collagen is thought to have a ... March 2005). "ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta". Journal of Dental Research. 84 (3): 278-282. doi: ... 2003). "Relationship of phenotype and genotype in X-linked amelogenesis imperfecta". Connective Tissue Research. 44 (1): 72-78 ...
The following is a list of symptoms that this disorder causes: Amelogenesis imperfecta Biconcave vertebrae Wide ribs ... Only one of them had amelogenesis imperfecta. "OMIM Entry - 610319 - RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA ...
There are 14 different types of amelogenesis imperfecta. The hypocalcification type, which is the most common, is an autosomal ... Amelogenesis, or enamel formation, occurs after the first establishment of dentin, via cells known as ameloblasts. Human enamel ...
mutations in WDR72 is thought to play a role in amelogenesis imperfecta People who suffer from amelogenesis imperfecta have ... 2010). "Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a ... 2008). "FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta". Am. J. Hum. Genet. 82 (2 ... 2009). "Phenotypic variation in FAM83H-associated amelogenesis imperfecta". J. Dent. Res. 88 (4): 356-60. doi:10.1177/ ...
Two types of amelogenesis imperfecta (AI) have been seen in KTS patients. The first is Hypoplastic which is caused by the ... Amelogenesis Imperfecta is known to be caused by other genetic mutations. Two examples are in chromosome 4 open reading frame ... The most prominent symptom is amelogenesis imperfecta which gives the teeth a stained brown-yellow color. The enamel is thin, ... Because the tooth discoloration caused by amelogenesis imperfecta is often thought to be caused by environmental factors or ...
Mutations in AMELX can cause amelogenesis imperfecta, a disorder of tooth enamel development. Bansal, Ajay Kumar; Shetty, Devi ... Wright JT (December 2006). "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of ... They are involved in amelogenesis, the development of enamel. Amelogenins are type of extracellular matrix protein, which, ... it is known that amelogenins are abundant during amelogenesis. Developing human enamel contains about 70% protein, 90% of which ...
Amelogenesis imperfecta hypomaturation type with taurodontism are often confused. Amelogenesis imperfecta of the hypomaturation ... Amelogenesis imperfecta, an abnormal formation of the enamel or external layer of the crown of the tooth, may also be present ... The presence of this hair texture type is a defining characteristic between a diagnosis of TDO verses amelogenesis imperfecta ... There are several clinical subsets of amelogenesis imperfecta, but common to TDO is the hypoplastic-hypomaturation subtype; the ...
"Amelogenesis imperfecta in the dentition of a wild chimpanzee". ResearchGate. Retrieved 12 January 2019. Herculano‐Houzel, ...
Ameloblast Amelogenesis imperfecta Tooth development Tooth enamel Nanci, Antonio (2013). Ten Cate's Oral Histology. London: ... Amelogenesis is the formation of enamel on teeth and begins when the crown is forming during the advanced bell stage of tooth ... Amelogenesis is considered to have three stages. The first stage is known as the inductive stage, the second is the secretory ... therefore after amelogenesis, enamel production has been finalized. This is in contrast to dentin formation which occurs ...
The first reported case was in 2013 following whole genome sequencing of a 7-year-old girl with amelogenesis imperfecta, a ... Some mice also develop amelogenesis imperfecta, a disorder causing the teeth to develop abnormally. Integrin αvβ6 is found ... While multiple patients with Amelogenesis Imperfecta have since been found to have ITGB6 mutations, there were no other ... April 2014). "ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta". Human Molecular Genetics. 23 ...
Jalili, I K; Smith, N J (1988). "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome". Journal of ... Jalili, I K; Smith, N J (1988). "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome". Journal of ... Jalili, I.K. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (2010) 24, 1659- ... "Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 ...
2009). "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. ... Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfecta. GRCh38: Ensembl release 89: ... "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. Genet. 85 ...
Towle I, Irish JD, De Groote I (April 2018). "Amelogenesis imperfecta in the dentition of a wild chimpanzee" (PDF). Journal of ... Hereditary causes of enamel hypoplasia include: Primary abnormalities in enamel development, such as amelogenesis imperfecta ...
2004). "Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta". J. Med. Genet. 41 (7): 545 ...
2005). "DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism". Am. J. Med. Genet. A. 133 ... and amelogenesis imperfecta with taurodontism. GRCh38: Ensembl release 89: ENSG00000064195 - Ensembl, May 2017 GRCm38: Ensembl ...
2006). "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta". J. Med. Genet. 42 (3): 271- ... has been associated with amelogenesis imperfecta. Enamel in the absence of MMP-20 is hypoplastic (thin), contains less mineral ...
Amelogenesis imperfecta is a rare condition that affects the formation of enamel (amelogenesis). The enamel is fragile, the ... Dentinogenesis imperfecta is a defect of dentin formation, and the teeth may be discolored yellow-brown, deep amber or blue- ...
provided by RefSeq, Aug 2011] A mutation in FAM20A was reported to be associated with amelogenesis imperfecta, an inherited ... A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively ... "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am ...
Amelogenesis imperfecta is a condition in which enamel does not form properly or at all. Dentinogenesis imperfecta is a ... Amelogenesis imperfecta, Genetics Home Reference, a service of the U.S. National Library of Medicine. Dentinogenesis imperfecta ... condition in which dentin does not form properly and is sometimes associated with osteogenesis imperfecta. Dentin dysplasia is ...
Mutations in the related AMELX gene on the X chromosome cause X-linked amelogenesis imperfecta. GRCh38: Ensembl release 89: ...
Developmental issues may lead to the restorative dentist treating hypodontia, amelogenesis imperfecta, dentogenesis imperfecta ...
The condition of these holes covering the entire tooth is consistent with the modern human ailment amelogenesis imperfecta. ...
Conversely, amelogenesis imperfecta is a relatively rare genetic disorder that distinctively may cause all teeth to be chalky. ... amelogenesis imperfecta, enamel hypomineralisation, dental fluorosis, molar hypomineralisation). Additionally, researchers have ...
The condition of these holes covering the entire tooth is consistent with the modern human ailment amelogenesis imperfecta. ...
... ear Conductive hearing loss Condyloma acuminatum Condylomata lata Cone dystrophy Cone rod dystrophy amelogenesis imperfecta ...
... with over a third of individuals displaying amelogenesis imperfecta. FINDbase (the Frequency of Inherited Disorders database) ... On the other hand, hereditary defects in structural proteins (such as osteogenesis imperfecta, Marfan's syndrome and many ...
... amelogenesis imperfecta MeSH C07.650.800.065.300 - dental enamel hypoplasia MeSH C07.650.800.100 - anodontia MeSH C07.650. ... amelogenesis imperfecta MeSH C07.793.700.065.300 - dental enamel hypoplasia MeSH C07.793.700.100 - anodontia MeSH C07.793. ... 800.250 - dens in dente MeSH C07.650.800.260 - dentin dysplasia MeSH C07.650.800.270 - dentinogenesis imperfecta MeSH C07.650. ... 700.250 - dens in dente MeSH C07.793.700.260 - dentin dysplasia MeSH C07.793.700.270 - dentinogenesis imperfecta MeSH C07.793. ...
Amelogenesis imperfecta, which occurs in between 1 in 718 and 1 in 14,000 individuals, is a disease in which the enamel does ...
Some mild forms of amelogenesis imperfecta and enamel hypoplasia Enamel defects caused by infection of a primary tooth ...
Amelogenesis imperfecta: The appearance of amelogenesis imperfecta depends on the type of amelogenesis, there are 14 different ... Dentinogenesis imperfecta: Dentinogenesis imperfecta is a hereditary dentine defect, associated with osteogenesis imperfecta, ...
... a flight instrument on aircraft Accommodative insufficiency of the eye Amelogenesis imperfecta of teeth Aortic insufficiency of ...
... amelogenesis imperfecta and deep fissures on lateral incisors There are no specific contraindications to placing dental ...
Amelogenesis imperfecta Dentinogenesis imperfecta Hyperdontia - More than the average number of teeth Anodontia - Lack of tooth ...
... interpreted as possible evidence that members of this species were affected by amelogenesis imperfecta, is published by Towle ...
... amelogenesis imperfecta, Down syndrome, Klinefelter syndrome, Mohr syndrome, Wolf-Hirschhorn syndrome, Lowe syndrome, ...
... dentinogenesis imperfecta, amelogenesis imperfecta, MIH. In patients who are at high risk of developing caries i.e. patients ...
... in Ameloblastoma Amelogenesis imperfecta Dentin Enamel Odontoblast Tooth development List of human cell types derived ... The differentiation from preameloblasts to ameloblasts occurs during the first stage of amelogenesis, called the pre-secretory ... implications for amelogenesis and dental fluorosis". Cells. 1 (3): 631-45. doi:10.3390/cells1030631. PMC 3671616. PMID 23745169 ... 103 These stages occur during the third and final stage of amelogenesis, called the maturation phase. There are various factors ...
... as well as specific conditions such as amelogenesis imperfecta and congenital syphilis. In severe cases enamel can be ...
... amelogenesis imperfecta MeSH C16.131.850.800.065.300 - dental enamel hypoplasia MeSH C16.131.850.800.100 - anodontia MeSH ... dentinogenesis imperfecta MeSH C16.131.850.800.370 - fused teeth MeSH C16.131.850.800.600 - odontodysplasia MeSH C16.131. ...
Find symptoms and other information about Amelogenesis imperfecta. ... Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure ... When Do Symptoms of Amelogenesis imperfecta Begin?. Symptoms of this disease may start to appear as a Newborn and as an Infant. ... About Amelogenesis imperfecta. Many rare diseases have limited information. Currently GARD aims to provide the following ...
Clinical resource with information about Amelogenesis imperfecta type 1E and its clinical features, AMELX, available genetic ... Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1; Amelogenesis imperfecta X-linked 1; Amelogenesis imperfecta, ... Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. ... GTR Home , Conditions/Phenotypes , Amelogenesis imperfecta type 1E Amelogenesis imperfecta type 1E. Synonyms. ...
Amelogenesis imperfecta is a disorder of tooth development. Explore symptoms, inheritance, genetics of this condition. ... Genetic Testing Registry: Amelogenesis imperfecta, hypocalcification type *Genetic Testing Registry: Amelogenesis imperfecta ... medlineplus.gov/genetics/condition/amelogenesis-imperfecta/ Amelogenesis imperfecta. ... Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes ...
Amelogenesis imperfecta is a disorder of tooth development. Explore symptoms, inheritance, genetics of this condition. ... Genetic Testing Registry: Amelogenesis imperfecta, hypocalcification type *Genetic Testing Registry: Amelogenesis imperfecta ... medlineplus.gov/genetics/condition/amelogenesis-imperfecta/ Amelogenesis imperfecta. ... Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes ...
Amelogenesis imperfecta: a case report. Ogunyinka A. Ogunyinka A. West Afr J Med. 2001 Jan-Mar;20(1):61-4. West Afr J Med. 2001 ... Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Sabandal MM, Schäfer E. Sabandal MM, et al. ... Amelogenesis imperfecta and the treatment plan - interdisciplinary team approach. Suchancova B, Holly D, Janska M, Stebel J, ... Restoring function and esthetics in a patient with amelogenesis imperfecta. Nel JC, Pretorius JA, Weber A, Marais JT. Nel JC, ...
... compatible with hypocalcified amelogenesis imperfecta. Final considerations: changes during amelogenesis may cause disorders in ... BERALDO, Cibele Batista de Siqueira et al. Amelogenesis imperfecta: clinical case report. RFO UPF [online]. 2015, vol.20, n.1, ... Keywords : Amelogenesis Imperfecta; Dental Enamel; Diagnosis; Panoramic Radiography.. · abstract in Portuguese · text in ... Early diagnosis of Amelogenesis Imperfecta is imperative to a more conservative treatment focused on preventing the effects of ...
Amelogenesis imperfecta causes tooth enamel to develop irregularly. With the right care, dogs with amelogenesis imperfecta can ... Serious dental conditions like amelogenesis imperfecta can cause pain and difficulty eating for your dog. ... Amelogenesis Imperfecta. Amelogenesis imperfecta is an inherited condition in which the tooth enamel doesnt fully develop. It ... Amelogenesis imperfecta causes tooth enamel to develop irregularly. With the right care, dogs with amelogenesis imperfecta can ...
13-year-old suffering from Amelogenesis Imperfecta.. Amelogenesis Imperfecta, caused by a chromosomal defect, causes teeth to ... Composite Bonding For Amelogenesis Imperfecta. Case ID: 46271. Individual results may vary. Case Details. Published articles on ... Amelogenesis Imperfecta is a development disorder of the teeth that can present in many ways. Fourteen forms of AI have been ...
Treatment Considerations for Patient with amelogenesis imperfecta: a review Authors. * Chiung-Fen Chen Department of Pediatric ... Amelogenesis imperfecta; Dental enamel, abnormalities; Dentistry, operative.. Author Biography Eduardo Bresciani, Institute of ... Objectives: Amelogenesis imperfecta (AI) is a group of inherited disorders primary affecting the structural of enamel. Patients ... Treatment Considerations for Patient With Amelogenesis Imperfecta: A Review Randomized, double-blind, placebo-controlled ...
A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.. Laouina, Samir; El Alaoui, Siham ... Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all ... To the best of our knowledge, this is the first case report of a rare association of amelogenesis imperfecta, platyspondyly, ... A dental examination revealed a hypoplastic amelogenesis imperfecta with a bacterial biofilm deposit on tooth surfaces. A ...
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter-Tonz syndrome. / Schossig, A.; Wolf, N.I.; Kapferer, I. et ... Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter-Tonz syndrome. A. Schossig, N.I. Wolf, I. Kapferer, A. ... Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter-Tonz syndrome. In: European Journal of Medical Genetics. ... Schossig A, Wolf NI, Kapferer I, Kohlschutter A, Zschocke J. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter ...
Read about the initiative for encouraging novel amelogenesis models and es vivo cell lines (ENAMEL) development. ... Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. ... In genetic conditions such as amelogenesis imperfecta (AI) in which certain enamel proteins are mutated, the teeth of these ... Projects focusing on amelogenesis comprise approximately 10% of the NIDCR portfolio. Among all previously funded amelogenesis ...
... characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent ... Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.. Project description:Amelogenesis imperfecta ( ... Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.. Project description:Amelogenesis imperfecta (AI) ... LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.. Project description:Amelogenesis imperfecta (AI) can be ...
Molecular-based phenotype variations in amelogenesis imperfecta. Dong J, Ruan W, Duan X. Dong J, et al. Oral Dis. 2023 May 8. ...
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population.. Sundell S. ...
Diseases with associated tooth defects: Amelogenesis imperfecta variants and ntinogenesis imperfecta variants; Diseases ...
brachyolmia-amelogenesis imperfecta syndrome Brain-Lung-Thyroid Syndrome Branchiogenic-Deafness Syndrome branchiooculofacial ...
Our previous study showed that, although suffering from a severe Amelogenesis Imperfecta, the K14-cre;Bmp2f/f;Bmp4f/f mice ( ... 2016). Abrogation of epithelial BMP2 and BMP4 causes amelogenesis imperfecta by reducing MMP20 and KLK4 expression. Sci. Rep. 6 ... 2015). Bmp2 deletion causes an amelogenesis imperfecta phenotype via regulating enamel gene expression. J. Cell. Physiol. 230, ... However, when Bmp2 and Bmp4 were both inactivated by K14-cre, the mice exhibited not only the compromised amelogenesis (Xie et ...
... amelogenesis imperfecta, and dentinogenesis imperfecta. The patients medical, demographic and dietary history would aid in ...
Amelogenesis imperfecta. *APC Gene mutation. *Marfan syndrome. *Familial adenomatous polyposis. *Crouzon syndrome (mutation of ...
Case Reports 2014; 35(5): 347-351 PubMed PMID: 25275257 Keywords: Amelogenesis Imperfecta:diagnostic imaging, Child, Czech ... Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. It is ... Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings ... Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings ...
Three basic types of amelogenesis imperfecta are recognized:. *. Hypoplastic type in which there is defective formation of ... Type II: Never occurs in association with osteogenesis imperfecta. Referred to as hereditary opalescent dentin. ...
Amelogenesis Imperfecta Preferred Term Term UI T001744. Date01/01/1999. LexicalTag NON. ThesaurusID ... Amelogenesis Imperfecta. Tree Number(s). C07.650.800.295.250. C07.793.700.295.250. C16.131.850.800.295.250. Unique ID. D000567 ... Amelogenesis Imperfecta Preferred Concept UI. M0000886. Scope Note. A clinically and genetically heterogeneous group of ...
Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth ...
... mimicking hypomineralized amelogenesis imperfecta. Interestingly, amelogenin-rich extracellular matrix abnormally accumulated ...
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. ... Amelogenesis imperfecta, Dental enamel, Glass ionomer cements, Radiography panoramic Abstract. Objectives: This study discusses ... Amelogenesis imperfecta: the importance of early diagnosis for adolescent health and development: Case report. Rev Adolesc ... Ceyhan D, Kirzioglu Z, Emek T. A long-term clinical study on individuals with amelogenesis imperfecta. Niger J Clin Pract. 2019 ...
Amelogenesis imperfecta: study suggests good outcomes from crown therapy. 12 Responses ». Sep 4 2015. Posted by. Derek Richards ... This small trial found no difference between either Procera or IPS e.max Press crown in amelogenesis imperfecta patients in the ...
Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). Lack of a recognizable signal peptide indicates that ...
Amelogenesis imperfecta. Amelogenesis imperfecta is a genetically inherited defect of enamel that affects primary and permanent ... The earlier the diagnosis of amelogenesis imperfecta is confirmed, the better the outcome is. Optimal treatment approaches ... Diagnosis, treatment planning, and full-mouth rehabilitation in a case of amelogenesis imperfecta. Contemporary Clinical ... Restorative Treatment in Patients with Amelogenesis Imperfecta: A Review. Journal of Prosthodontics. ...
  • Researchers have described at least 14 forms of amelogenesis imperfecta. (medlineplus.gov)
  • The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. (omicsdi.org)
  • In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. (omicsdi.org)
  • Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. (omicsdi.org)
  • A dental examination revealed a hypoplastic amelogenesis imperfecta with a bacterial biofilm deposit on tooth surfaces. (bvsalud.org)
  • Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. (omicsdi.org)
  • Professors and students of the Dentistry course had difficulty in making treatment decisions on teeth with amelogenesis imperfecta, with mild dental fluorosis and ease on teeth with hypoplasia and dental caries. (bvsalud.org)
  • Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. (nih.gov)
  • Final considerations: changes during amelogenesis may cause disorders in dental enamel development, affecting enamel's quality and quantity. (bvsalud.org)
  • Further studies are necessary to clarify the genetic defect producing this syndrome , and the symptomatic associations of amelogenesis imperfecta , platyspondyly and bicytopenia. (bvsalud.org)
  • In genetic conditions such as amelogenesis imperfecta (AI) in which certain enamel proteins are mutated, the teeth of these children are weak and often require repeated and increasingly progressive restorations to regain partial function. (nih.gov)
  • Genetic manipulation and proteomic tools have revealed many of the major players in amelogenesis, and both animal models and cell lines have proven useful. (nih.gov)
  • Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the disease. (nel.edu)
  • Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (usp.br)
  • 13. Hereditary amelogenesis imperfecta. (nih.gov)
  • Amelogenesis imperfecta refers to a group of development anomalies of the teeth (also referred as hereditary dysplasia) that affects the genome of the individual and is related to at least one of the stages of enamel formation, being a hereditary characteristic that affects both the deciduous as the permanent dentition. (bvsalud.org)
  • In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. (medlineplus.gov)
  • Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all teeth , including both primary and permanent dentition . (bvsalud.org)
  • Amelogenesis Imperfecta, caused by a chromosomal defect, causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. (hamptondentalassociates.com)
  • Mutations in the AMELX , ENAM , MMP20 , and FAM83H genes can cause amelogenesis imperfecta. (medlineplus.gov)
  • Enamel formation occurs through the process of amelogenesis, during which ameloblast cells form and secrete the extracellular matrix which eventually matures into the outer hydroxyapatite layer of the tooth. (nih.gov)
  • The rodent with its continuously erupting incisor has been a model organism for the study of the continuum of amelogenesis where all the enamel formation stages are visible at once. (nih.gov)
  • Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited defects of enamel formation. (omicsdi.org)
  • Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). (nih.gov)
  • Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. (medlineplus.gov)
  • The condition may be caused by illness, injury or, in the case of amelogenesis imperfecta, genetics. (dailypuppy.com)
  • A number of different environmental factors can lead to symptoms similar to those of the genetics-caused amelogenesis imperfecta. (dailypuppy.com)
  • Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. (nih.gov)
  • Objectives: This study discusses the clinical characteristics of a case of type IIA amelogenesis imperfecta (hypomatured with diffuse pigmentation), presenting the treatment methods and how this condition affects the patient's quality of life. (usp.br)
  • Amelogenesis imperfecta: clinical aspects and treatment. (usp.br)
  • Early diagnosis of Amelogenesis Imperfecta is imperative to a more conservative treatment focused on preventing the effects of this pathology. (bvsalud.org)
  • A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature. (omicsdi.org)
  • imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. (nih.gov)
  • The panoramic radiograph showed squared-shaped crowns on incisors and low undefined cusps of molars and premolars, and a radiolucent image on crowns of all permanent teeth, including those in formation, compatible with hypocalcified amelogenesis imperfecta. (bvsalud.org)
  • Amelogenesis Imperfecta is a development disorder of the teeth that can present in many ways. (hamptondentalassociates.com)
  • Amelogenesis imperfecta is a tooth development disorder in which the teeth are covered with thin, abnormally formed enamel. (nglf.net)
  • Amelogenesis imperfecta is a disorder of tooth development. (medlineplus.gov)
  • Other cases of amelogenesis imperfecta result from new gene mutations and occur in people with no history of the disorder in their family. (medlineplus.gov)
  • When Do Symptoms of Amelogenesis imperfecta Begin? (nih.gov)
  • A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report. (bvsalud.org)
  • To the best of our knowledge , this is the first case report of a rare association of amelogenesis imperfecta , platyspondyly, and bicytopenia. (bvsalud.org)
  • The objectives of this concept are to 1) generate new or improved models for the study of amelogenesis that accurately reflect the developmental stage or physiological process they are intended to represent, and 2) validate those models to ensure they are robust and reproducible. (nih.gov)
  • Amelogenesis imperfecta: a classification and catalogue for the 21st century. (medlineplus.gov)
  • Objectives: Amelogenesis imperfecta (AI) is a group of inherited disorders primary affecting the structural of enamel. (unesp.br)
  • Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. (nel.edu)
  • This small trial found no difference between either Procera or IPS e.max Press crown in amelogenesis imperfecta patients in the short term. (nationalelfservice.net)
  • About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. (medlineplus.gov)
  • Trentesaux T, Rousset MM, Dehaynin E, Laumaillé M, Delfosse C. 15-year follow-up of a case of amelogenesis imperfecta: importance of psychological aspect and impact on quality of life. (usp.br)
  • Amelogenesis imperfecta is an inherited condition in which the tooth enamel doesn't fully develop. (dailypuppy.com)
  • With the right care, dogs with amelogenesis imperfecta can have strong dental health for years. (dailypuppy.com)