Heimler syndrome
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Prevalence < 1.106. Autosomal recessive transmission of mutations in the gene:
- PEX1 on 7q21.2 [MIM 234 580] in case of type 1
- PEX6 on 6p21.1 [MIM 616 617] in case of type 2
Association of:
- sensorineural deafness
- permanent teeth enamel hypoplasia
- abnormalities of the nails: Beau lines, leuconychia
Anesthetic implications:
fragile teeeth, deafness
References :
Updated: May 2018