Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Purpose: We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted resequencing in a large cohort of TA and OFC patients.

Methods: WES was performed in two unrelated patients: one with severe TA and OFC and another with severe TA only. After deleterious mutations were identified in a gene encoding low-density lipoprotein receptor-related protein 6 (LRP6), all its exons were resequenced with molecular inversion probes in 67 patients with TA, 1,072 patients with OFC, and 706 controls.

The effect of using CBCT in the diagnosis of canine impaction and its impact on the orthodontic treatment outcome.

Aim: To investigate the added-value of using CBCT in the orthodontic treatment method of maxillary impacted canines and treatment outcome.

Materials And Methods: The sample consisted of 118 treated patients. The CBCT group (n = 58) (39 females/19 males with the mean age of 14.

Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees.

Background: Even though tooth agenesis is the most common developmental anomaly of the human dentition, its genetic background and pathogenic mechanism(s) still remain poorly understood. Syndromic and isolated forms of hypodontia have been described and can occur sporadically or in families.

Objectives: We describe and analyse the hypo-/oligodontia phenotype variations in families.

Orthodontic and orthognathic management of a patient with Apert syndrome: a case report.

This case report describes the combined orthodontic and orthognathic management of a 14-year-old girl affected with Apert syndrome. She presented with a severe Class III skeletal relationship, midfacial hypoplasia and an large anterior open bite. Intraorally, she had severe crowding, a narrow maxilla and lateral posterior crossbites.