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  • Title: Severely hypoplastic amelogenesis imperfecta with taurodontism.
    Author: Pavlic A, Lukinmaa PL, Nieminen P, Kiukkonen A, Alaluusua S.
    Journal: Int J Paediatr Dent; 2007 Jul; 17(4):259-66. PubMed ID: 17559453.
    Abstract:
    BACKGROUND: The prominent dental feature of a boy was severely hypoplastic enamel in both primary and permanent teeth. CASE REPORT: Many permanent teeth were already infected while emerging in the oral cavity. Panoramic radiograph showed enlarged and elongated pulp chambers (taurodontism) in the permanent first molars. The clinical and radiological diagnosis was either hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism (AIHHT) or tricho-dento-osseous syndrome (TDO). Histological examination of the upper right permanent first molar revealed thin lamellar or somewhat thicker amorphous enamel on approximal surface only with no rods or incremental lines visible. Histologically, the Witkop type AIG designated 'enamel agenesis' cannot be excluded. The medical and dental history of the family members, as well as the boy's medical examination, was noncontributing. He had thick, blond, curly hair. The bone structure of the jaws and skull was normal. For genetic analysis, DLX3 gene was sequenced but no mutation was found. CONCLUSIONS: Since the gene defect of TDO has been localized only in the DLX3 gene, the more probable diagnosis was AI.
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