dentinogenesis imperfecta

Etiology

• osteogenesis imperfecta

Epidemiology

• occurs with an incidence of 1:8000 live births

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)

Clinical manifestations

• discolored translucent teeth (blue-gray or yellow-brown)
  • teeth are amber & opalescent
• shortening of the teeth
• weak teeth prone to breaking
• early onset progressive sensorineural high-frequency hearing loss may occur in a subset of affected individualsb[1]

More general terms

• genetic disease of the teeth

Database

• OMIM: https://mirror.omim.org/entry/125490
• OMIM: https://mirror.omim.org/entry/605594