Search
amelogenesis imperfecta type 2A1 (amelogenesis imperfecta hypoplastic with or without openbite malocclusion)
Pathology:
- defect of enamel formation
- involves both primary & secondary dentition
Genetics:
- autosomal recessive
- associated with defects in KLK4
- associated with defects in MMP20
Clinical manifestations:
- the teeth have a shiny agar jelly appearance
- the enamel is softer than normal
- brown pigment is present in middle layers of enamel
General
amelogenesis imperfecta
Database Correlations
OMIM 204700
References
OMIM :accession 104500