Severely hypoplastic amelogenesis imperfecta with taurodontism.
BACKGROUND
The prominent dental feature of a boy was severely hypoplastic enamel in both primary and permanent teeth.


METHODS
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.
Pavlic
Alenka
A
Department of Paediatric and Preventive Dentistry, University of Ljubljana, Ljubljana, Slovenia. alenka.pavlic@mf.uni-lj.si
Lukinmaa
Pirjo-Liisa
PL
Nieminen
Pekka
P
Kiukkonen
Anu
A
Alaluusua
Satu
S
D000567:Amelogenesis Imperfecta / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D004252:DNA Mutational Analysis; D003743:Dental Enamel / Q000002:abnormalities; D003786:Dental Pulp Cavity / Q000002:abnormalities; D003937:Diagnosis, Differential; D005801:Genes, Homeobox; D006197:Hair / Q000002:abnormalities; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008963:Molar / Q000002:abnormalities; D009264:Nails, Malformed / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
C088334:Distal-less homeobox proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors