[MIM 190 320]

Prevalence < 1.106. Autosomal dominant transmission of mutations of the GLX3 gene (17q21.3-q22).

Form of ectodermal dysplasia, with very variable symptoms:

-        curly/kinky hair at birth (80 %)

-        dental enamel hypoplasia with discoloration and taurodontia (lengthening of the pulp chamber with very distal division of dental roots) of the molars, with increased risk of tooth decay and dental abscesses

-        increase of mineralization of the bones and of the thickness of the cortical bone; absence of pneumatization of the mastoid process, the frontal sinus and the diploe of the cranial vault.

-        flat and brittle nails

-        sometimes dolichocephaly associated to a craniosynostosis

Anesthetic implications:

fragile teeth

References :

Updated: May 2018