Author/Editor		Pavlič, A; Lukinmaa, PL; Nieminen, P; Kiukkonen, A; Alaluusua, S
Title		Severely hypoplastic amelogenesis imperfecta with taurodontism
Type		članek
Source		Int J Paediatr Dent
Vol. and No.		Letnik 17, št. 4
Publication year		2007
Volume		str. 259-66
Language		eng
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.
Descriptors		AMELOGENESIS IMPERFECTA DENTAL ENAMEL HYPOPLASIA TOOTH ABNORMALITIES DNA MUTATIONAL ANALYSIS CHILD