Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10-10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.

The Assessment of Digital Study Models Using the GOSLON Yardstick Index.

Objective : To investigate the reproducibility and repeatability of digital models of patients with a unilateral cleft lip and palate (UCLP) using the GOSLON yardstick. Design : Reproducibility and repeatability study. Method : Two examiners used the GOSLON yardstick to assess the intermaxillary dentoalveolar relationship of 30 consecutive UCLP patients by analyzing their 9-year (±3 months) dental study casts and digital study models. The records were rated 1 week apart to avoid bias. The process was repeated 1 month later as a measure of reproducibility. Reliability was assessed by comparing the GOSLON score achieved between the two modalities. Patient dental study casts were sent to 3M Unitek Australia to be scanned using the 3M Unitek Lava(TM) system to produce digital study models. The accuracy of the dental study cast occlusal registration was assessed by both raters prior to sending the study models for scanning. Statistical analysis : The Linear Weighted Kappa statistic and Kendall's Coefficient of Concordance statistic were used to determine the levels of agreement within and between raters. Results : The linear weighted Kappa statistic for intrarater repeatability of digital study models scores were very high (0.89 and 0.97). This compared favorably to the intrarater repeatability of study model casts scores (0.86 and 0.97). There was very good agreement for interrater digital study model scores (0.80 and 0.87) and also for the interrater study model casts scores (0.80 and 0.90). Kendall's Coefficient of Concordance statistic (0.99) and Correlation Coefficient (0.86) support the weighted Kappa results of the digital study model scores. Conclusion : Digital models can be used for GOSLON scoring with a high degree of reproducibility and repeatability.

Long-term follow-up of implant treatment for oligodontia in an actively growing individual: a clinical report.

An 11-year-old patient with a history of oligodontia and hypohidrotic ectodermal dysplasia had implants placed in the anterior and posterior mandible as part of his prosthetic rehabilitation. The maxilla was restored by using traditional prosthodontic methods. The long-term follow-up of the treatment is presented, and the clinical implications of placing implants in an actively growing child are discussed.

A treatment planning classification for oligodontia.

PURPOSE: The aim of this research was to provide a classification for patients with oligodontia that could act as an aid in treatment planning. MATERIALS AND METHODS: Panoramic radiograph records of 70 patients with oligodontia were used to categorize the extent of the disability and treatment modality. Patients were classified into types 1 through 3 depending on the number of missing primary and permanent teeth, as well as in relation to their prosthodontic requirements. The radiographs were then assessed independently on two separate occasions by three experienced clinicians to validate the classification. RESULTS: There was a high level of intrarater consistency in allocating patients into the three different types with a Kappa (k) score of 0.77 for clinician 1, 0.87 for clinician 2, and 0.94 for clinician 3. There was also a strong interrater agreement (overall k score: 0.88). A k score greater then 0.6 is regarded as being good and greater than 0.8 as being very good. CONCLUSIONS: Oligodontia is a heterogeneous condition. Patients with oligodontia can be classified as having three different types according to the extent of their disability and the complexity of their prosthodontic requirements. This classification is a reliable diagnostic tool based on the positive outcome of the inter- and intrarater consistency.

The interdisciplinary management of a Class II division 1 malocclusion with an associated mandibular defect following surgical excision of fibromatosis: a clinical report.

Surgical excision of malignant or nonmalignant tumors of the maxillofacial region can result in significant anatomical loss/compromise. Correction of the residual defect can be complicated by the presence of an underlying malocclusion and can be a significant clinical challenge if large numbers of teeth have been lost in surgery. This clinical report discusses the interdisciplinary treatment to rehabilitate a patient with a history of surgical removal of fibromatosis. Treatment involved the use of osseointegrated implants to facilitate orthodontic correction of an underlying malocclusion. The implants were subsequently used in the prosthodontic rehabilitation of the residual surgical defect.