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Amelogenesis imperfecta Type 1C

Hypoplastic amelogenesis imperfecta


Presentation

  • After radiographic examination of crown/root ratio, root number and morphology of the present teeth, construction of full-mouth metal reinforced porcelain fixed bridge restoration was planned.[de.slideshare.net]
  • Her originality is to combine approaches both in mice and humans presenting these palate and teeth developmental defects as clinical phenotypical manifestations of rare diseases.[books.google.com]
  • Presentation of two kindreds and a review of the literature. ( 1574307 ) Crawford P.J....Aldred M.J. 1992 24 Genetic heterogeneity in X-linked amelogenesis imperfecta. ( 1358807 ) Aldred M.J....Harper P.S. 1992 25 A deletion in the amelogenin gene (AMG[malacards.org]
  • Summarizing tables are used to highlight the key diagnostic features, and helpful illustrated case presentations are included.[books.google.de]
Dysostosis
  • […] abdominal obesity-metabolic syndrome ablepharon macrostomia syndrome achondrogenesis type II acrofacial dysostosis Cincinnati type acrokeratosis verruciformis ADULT syndrome adult-onset autosomal dominant demyelinating leukodystrophy advanced sleep phase[rgd.mcw.edu]
  • Cleidocranial dysostosis This inherited condition affects bones in the skull and clavicle area. It is caused by abnormal gene and passed down as an autosomal dominant trait. Jaw and brow areas of these patients point out, the nasal bridge is wide.[nordimplant.com]
Anterior Openbite Malocclusion
  • Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.[uniprot.org]
  • Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. {ECO:0000269 PubMed:14684688, ECO:0000269 PubMed:20439930, ECO:0000269 PubMed:25789606}.[genecards.org]
Yellow-Brown Discoloration of the Teeth
  • discoloration of the teeth Associated Genes ENAM (Withdrawn symbols: AIH2 ) Mouse Orthologs Enam (Withdrawn symbols: abte ) Source OMIM:204650 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols,[mousephenotype.org]
  • Dentition exhibiting diffuse yellow-brown discoloration . Note numerous teeth with loss of coronal enamel except for the cervical portion. Hypocalcified type – aD & AR Extensive loss of coronal enamel and the similar density of enamel and dentin.[slideshare.net]
Macrostomia
  • […] abdominal obesity-metabolic syndrome ablepharon macrostomia syndrome achondrogenesis type II acrofacial dysostosis Cincinnati type acrokeratosis verruciformis ADULT syndrome adult-onset autosomal dominant demyelinating leukodystrophy advanced sleep phase[rgd.mcw.edu]
Ptosis
  • Ehlers-Danlos syndrome Axenfeld-Rieger syndrome Bannayan-Riley-Ruvalcaba syndrome Bart-Pumphrey syndrome Beare-Stevenson cutis gyrata syndrome Birk-Barel syndrome Birt-Hogg-Dube syndrome Blau syndrome blepharocheilodontic syndrome blepharophimosis, ptosis[rgd.mcw.edu]
Cutis Laxa
  • […] syndrome type 2A autoimmune lymphoproliferative syndrome type 4 autosomal dominant Alport syndrome autosomal dominant cerebellar ataxia autosomal dominant chondrodysplasia punctata autosomal dominant chronic granulomatous disease autosomal dominant cutis[rgd.mcw.edu]
  • Laxa autosomal recessive distal spinal muscular atrophy 1 autosomal recessive distal spinal muscular atrophy 2 Autosomal Recessive Dyskeratosis Congenita autosomal recessive early-onset Parkinson's disease 15 autosomal recessive early-onset Parkinson's[rgd.mcw.edu]
Photosensitivity
  • […] syndrome neurofibromatosis nevoid basal cell carcinoma syndrome ocular albinism with sensorineural deafness Opitz GBBB Syndrome, Type II pachyonychia congenita Pallister-Hall syndrome paraganglioma Pelger-Huet anomaly permanent neonatal diabetes mellitus photosensitive[rgd.mcw.edu]
Waardenburg Syndrome
  • syndrome X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2[rgd.mcw.edu]

Treatment

  • C Post-treatment view of the teeth in maximum intercuspation.[de.slideshare.net]
  • Amelogenesis Imperfecta Treatment The treatment of this condition depends on the type of AI that one is suffering from. This can range from providing preventive care, such as the use of Sealants and Bonding treatment.[phaa.com]
  • Pediatric Dentistry will provide students of dentistry, as well as pediatric dentists and dentists involved in the treatment of young patients, with a uniquely clear, comprehensive, and clinical approach to the dental treatment of children and adolescents[books.google.es]
  • At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition.[healthline.com]
  • Cleft palate is also addressed, with details on etiology, phenotypes, treatment timing and approaches, and dental management.[books.google.de]

Prognosis

  • Teeth with hopeless periodontal prognosis are usually extracted. Amelogenesis imperfecta with localised aggressive periodontitis is a rare clinical entity.[jisponline.com]
  • The clinician has to consider the long-term prognosis of the treatment outcome.[omicsonline.org]

Etiology

  • Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases.[paperity.org]
  • Maturation stage – crystallites enlarge and mature – Hypomaturative AI ETIOLOGY 19.[slideshare.net]
  • Recent reports involve kallikrein-4 (KLK4), MMP-20 and DLX3 genes in the etiologies of some cases. The format ion of enamel is a mul tistep process, and problems may ar ise in anyone of the steps.[de.slideshare.net]
  • Cleft palate is also addressed, with details on etiology, phenotypes, treatment timing and approaches, and dental management.[books.google.de]

Epidemiology

  • Each age-specific section covers the physical, cognitive, emotional, and social changes that children experience, as well as the epidemiology of dental disease at that age.[books.google.de]
  • Relevant External Links for AMELX Genetic Association Database (GAD) AMELX Human Genome Epidemiology (HuGE) Navigator AMELX Atlas of Genetics and Cytogenetics in Oncology and Haematology: AMELX No data available for Genatlas for AMELX Gene The human enamel[genecards.org]
  • Epidemiology and clinical classification in a Swedish child population. Swed Dent J 1985; 9(4): 157-169. 11. Sundell S, Valentin J: Hereditary aspects and classification of hereditary amelogenesis imperfect .[czytelniamedyczna.pl]
  • Epidemiology Reports vary widely depending upon the gene pool. Val-ues of 1:14,000 in the USA [2] to 1:700 [3] have been reported.[slidedoc.us]
Sex distribution
Age distribution

Pathophysiology

  • Oliveira B, Kleta R, Bockenhauer D, Walsh SB: Genetic, pathophysiological, and clinical aspects of nephrocalcinosis. Am J Physiol Renal Physiol 2016; 311:F1243–F1252.[karger.com]

Prevention

  • Includes prevention techniques as well as treatment regimes Contains many colour clinical photographs Accompanied by a large number of references Provides helpful tables to categorise the causes and characteristics of lesions Written by a leading expert[books.google.de]
  • Mutations in these genes cause the loss of production of proteins or preventing the genes to make any proteins what so ever.[wiki.ggc.edu]
  • A mutation in any one of these genes can prevent it from making the correct protein, leading to enamel that is thin or soft.[healthline.com]
  • Pediatric Dentistry provides comprehensive coverage of all aspects of treatment for children, ranging from health promotion and prevention to strategies for systematic and comprehensive oral care.[books.google.es]

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