Primary failure of eruption: From molecular diagnosis to therapeutic management.

ABSTRACT:

Introduction

Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R, and recently in KMT2C genes are the known etiologies. The aim of this work was to describe the variability of clinical presentations of PFE associated with pathogenic variants of PTHR1.

Material and methods

Diagnosis of non-syndromic PFE has been suggested for three members of a single family. Clinical and radiological features were collected, and genetic analyses were performed.

Results

The clinical phenotype (type and number of involved teeth, depth of bone inclus

SUBMITTER: Wagner D 

PROVIDER: S-EPMC9841033 | biostudies-literature | 2023 Mar-Apr

REPOSITORIES: biostudies-literature