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dentinogenesis imperfecta
Etiology:
- osteogenesis imperfecta [1]
Epidemiology:
- occurs with an incidence of 1:8000 live births [2]
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]
General
genetic disease of the teeth
Database Correlations
OMIM correlations
References
- Medical Knowledge Self Assessment Program (MKSAP) 19
Board Basics. An Enhancement to MKSAP19.
American College of Physicians, Philadelphia 2022
- UniProt :accession Q9NZW4