[MIM 217 080]

Prevalence < 1.106. Autosomal recessive transmission of a mutation of the CNNM4 gene (2q11.2), leading to the combination of  amelogenesis imperfecta (see this term) and a recessive autosomal dystrophy of the rods and cones (see this term).

Anesthetic implications:

fragile teeth and visual impairment

References :

Updated: April 2018