dentinogenesis imperfecta
Jump to navigation
Jump to search
Etiology
Epidemiology
Pathology
- both primary & permanent teeth are affected
- pulp chamber is obliterated by abnormal dentin
- the enamel, although unaffected, tends to fracture, which makes dentin undergo rapid attrition, leading to shortening of the teeth.
Genetics
- associated with defects in DSPP gene (autosomal dominant)[2]
Clinical manifestations
- discolored translucent teeth (blue-gray or yellow-brown)
- teeth are amber & opalescent[2]
- shortening of the teeth[2]
- weak teeth prone to breaking[1]
- early onset progressive sensorineural high-frequency hearing loss may occur in a subset of affected individualsb[1]
More general terms
References
- ↑ Jump up to: 1.0 1.1 1.2 Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
- ↑ Jump up to: 2.0 2.1 2.2 2.3 2.4 UniProt http://www.uniprot.org/uniprot/Q9NZW4.html