Dental anomalies in a child with craniometaphysial dysplasia.
2007
: Craniometaphysial dysplasia (CMD) is a rare disorder that mainly affects craniofacial bones. It is caused by mutations within a region of human homolog (Ankh) of the mouse progressive ankylosis (Ank) gene. ANK, together with other factors, regulates intracellular and extracellular levels of pyrophosphate/inorganic phosphate critical for maintaining mineral homeostasis. The systemic manifestations noted in CMD patients have been reported previously. The dental anomalies in CMD patients, however, have been minimally described in the dental literature. The purpose of this case report was to describe both systemic and dental manifestations of a 3 1/2-year-old child with craniometaphysial dysplasia. At the gross level, enamel discoloration and tooth malformations were observed in multiple primary teeth without obvious defects in the roots. Radiographic evidence of excess mineralization was noted on the primary maxillary second molars, limited to the mesial region of the crowns. The genetic and molecular effects of Ank/Ankh mutations are also discussed.
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