Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations.

We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger syndrome (ARS). Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridization. Phenotypic analysis was based on both clinical and radiographic examinations, as well as on medical data. Lateral cephalometric radiographs of five patients were analysed using Viewbox 3.1-Cephalometric Software. The cephalometric values were compared to Finnish population-standard values of the same age and gender. Two frameshift mutations and three whole gene deletions were detected in five families. Class III skeletal relationship with retrognathic maxilla and mildly retrognathic mandible were detected in all five patients studied. Significant differences compared with the control values were in SNA (P = .0014), ANB (P = .0043) and SNB angles (P = .013). Five patients had anterior crossbite. Six patients showed tooth agenesis. The average number of missing teeth (third molars excluded) was 9 (range 0-15). The tooth agenesis rate was 52% in maxilla and 26% in mandible. Maxillary central and lateral permanent incisors were most often missing (rate 71% equally) while no one lacked canines or first molars in mandible. Two patients had a supernumerary mandibular permanent incisor. Six patients had either taurodontic and/or single-rooted molars. Our results suggest that class III skeletal relationship with maxillary and mandibular retrognathism, anterior crossbite, maxillary incisor agenesis and taurodontic, even pyramidal, roots are common determinants of ARS caused by PITX2 mutations.

Longitudinal trends in temporomandibular joint disorder symptoms, the impact of malocclusion and orthodontic treatment: A 20-year prospective study.

BACKGROUND: Studies on the association between malocclusion and temporomandibular joint disorder (TMD) have reported conflicting results. OBJECTIVES: To determine the impact of malocclusion and orthodontic treatment on symptoms of TMD. METHODS: At 12 years, 195 subjects fulfilled a questionnaire regarding TMD symptoms and participated in an oral examination including preparation of dental casts. The study was repeated at ages 15 and 32. The occlusions were assessed by applying the Peer Assessment Rating (PAR) Index. Associations between the changes in PAR scores and TMD symptoms were analysed with the chi-square test. A multivariable logistic regression was used to calculate the odds ratios (OR) and 95% confidence intervals (CI) of TMD symptoms at 32 years predicted by sex, occlusal traits and orthodontic treatment history. RESULTS: One in three subjects (29%) was orthodontically treated. Sex was associated with more self-reported headaches by females at 32 years (OR 2.4, 95% CI 1.05-5.4; p = .038). At all time points, any crossbite was significantly associated with greater odds for self-reported temporomandibular joint (TMJ) sounds at 32 years (OR 3.5, 95% CI 1.1-11.6; p = .037). More specifically, association occurred with posterior crossbite (OR 3.3, 95% CI 1.1-9.9; p = .030). At 12 and 15 years, boys whose PAR score increased were more likely to develop TMD symptoms (p = .039). Orthodontic treatment had no impact on the number of symptoms. CONCLUSIONS: Presence of crossbite may increase the risk of self-reported TMJ sounds. Also, longitudinal changes in occlusion may have an association with TMD symptoms while orthodontic treatment is not associated with the number of symptoms.