Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene

Background Primary failure of tooth eruption (PFE) is a rare non-syndromic disorder with prematurely ceased eruption of the posterior teeth, despite clearance by bone resorption of the eruption path. It is generally agreed that most of the impacted teeth are second molars that are deeply seated, and without symptoms. Traditionally, patients with failure of tooth eruption undergo surgical and/or orthodontic treatment. However, patients with PTH1R mutations have no beneficial effect of such a regime and PFE is therefore important to diagnose. Case report and follow-up A family with three PFE affected members in two generations, involving both the primary and permanent dentitions, and a novel mutation in the PTH1R gene are reported. Furthermore, the treatment of the eruption failure was documented in one of the cases. Conclusion In the present study, the proband initially only had a minor clinical problem, lack of eruption of the primary second left mandibular molar. However, over time several problems appeared in the permanent dentition. Clinical signs of PFE should lead one to look for similar dental problems in related family members and to molecular DNA testing. Confirmation of the diagnosis PFE in young children has the advantage that unnecessary treatment can be avoided, since early orthodontic intervention for these patients is futile. Once growth is complete, several multidisciplinary treatment strategies can partially solve the posterior open bite malocclusion that is characteristic of this disorder. Treatment should be planned in cooperation with specialists who are used to treating PFE patients.