Oral findings in DiGeorge syndrome: clinical features and histologic study of primary teeth.

OBJECTIVE: For the purpose of supplementing the shortage of dental information about DiGeorge syndrome, we report two cases of the syndrome seen in Japanese boys. STUDY
DESIGN: Two cases were compared with respect to orofacial and dental findings; one was a case of complete DiGeorge syndrome and the other a case of partial DiGeorge syndrome. Extracted deciduous teeth from the two boys underwent histologic study.
RESULTS: Each patient showed systemic developmental delay, hypocalcemia, and slight mental retardation. In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed. A dental examination showed delayed formation and eruption of permanent teeth, aplasia of the nasopharynx, and enamel hypoplasia along with enamel hypocalcification. Structural streaks with increased calcification were histologically detected in the deciduous tooth from the patient with complete DiGeorge syndrome.
CONCLUSIONS: Common characteristic orofacial and dental findings were noted in the two DiGeorge syndrome cases. Furthermore, histologic study of the deciduous tooth from the boy with complete DiGeorge syndrome suggests that there was some relationship between transient relative hypercalcemia and dentinal hypermineralized streaking of the tooth.