A craniomaxillofacial unit was established recently in Western Australia, and a study was carried out to provide some baseline characteristics of primary craniosynostosis in Western Australia and to investigate whether there has been any significant temporal change in birth prevalence. A case control study was conducted, using cases identified from a population-based register of birth defects, and a random sample of all births without a birth defect formed the control group. All subjects were born in Western Australia over the period 1980-1994 inclusive. The prevalence of craniosynostosis over the period 1980-1994 in Western Australia was 5.06 per 10,000 births. There was a significant linear increase in lambdoid synostosis over this period of 15.7% per year. Craniosynostosis was significantly more common among male infants, infants born preterm (<37 weeks gestation), breech presentation or presentations other than vertex, and infants born to fathers 40 years of age or older, even after accounting for known autosomal dominant syndromes. Other major birth defects were found in 11.2% of children with nonsyndromic craniosynostosis. Only 43 children (25.3%) with craniosynostosis were reported to have been seen by a geneticist. Thus, the prevalence of craniosynostosis in Western Australia is among the lowest reported. There is no current explanation for the increase in lambdoid synostosis. The increased risk of so-called nonsyndromic craniosynostosis with paternal age raises the possibility of undiagnosed new dominant mutations. This, along with the excess of other birth defects in children with craniosynostosis emphasises the need to ensure that these families are offered genetic counseling.

Hemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives. The phenotype is extremely variable. In addition to craniofacial anomalies there may be cardiac, vertebral and central nervous system defects. The majority of cases are sporadic, but there is substantial evidence for genetic involvement in this condition, including rare familial cases that exhibit autosomal dominant inheritance. As an approach towards identifying molecular pathways involved in ear and facial development, we have ascertained both familial and sporadic cases of HFM. A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci. In one family data were highly suggestive of linkage to a region of approximately 10.7 cM on chromosome 14q32, with a maximum multipoint lod score of 3.00 between microsatellite markers D14S987 and D14S65. This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data. Coding region mutations were sought in the familial cases and in 120 sporadic cases, and gross rearrangements of the gene were excluded by Southern blotting. Evidence for genetic heterogeneity is provided by the second family, in which linkage was excluded from this region.

Clinical outcomes in children born with a cleft lip and palate (CLP) have been an area of interest for orthodontists for a number of years. Whilst tools for measurement of these outcomes are available, there is no widely accepted measure of initial cleft severity and no known quantitative indices. Therefore, the potential influence of initial severity remains unmeasured and largely ignored. The aim of this investigation was to determine the importance of initial cleft severity in determining patient outcome. The longitudinal records of 49 children born with a unilateral cleft lip and palate (UCLP), and treated in a single centre were examined. An index of initial cleft severity was developed that categorizes the cleft area as a percentage of the total palate area. The dental arch relationships of the same patients at 6 years of age were also determined. The nature of the association between these was investigated for agreement and correlation by calculation of weighted Kappa and Spearman's correlation coefficient, respectively. No evidence was found in this sample that the initial cleft area had any bearing on the quality of outcome at 6 years of age.

Background: Dens Invaginatus (DI), commonly known as dens in dente, is a developmental malformation of tooth that most commonly affects permanent maxillary lateral incisor teeth. Deciduous teeth are infrequently affected. Presence of DI in mandibular permanent teeth is extremely rare. Further, the presence of DI bilaterally in the maxillary lateral incisors of the same patient is even more unusual. Methods: In this article, an unusual case of DI affecting a mandibular lateral incisor tooth is described. This malformation was uncovered after a full mouth radiographic examination when the patient presented for dental treatment unrelated to this finding. In addition, the various radiographic appearances of DI as they present within the maxillary and mandibular teeth are described. Essential clinical considerations and treatment options are presented. A review of the pertinent literature is undertaken and a table summarizing previous published findings of mandibular DI is presented. Results: A review of the literature indicates that DI in mandibular teeth is extremely rare with only 10 other cases involving 13 teeth reported previously. Conclusions: Although this is an extremely rare case, DI is an anomaly that should be familiar to all practising dentists due to the clinical implications of potential sequelae of pulpal involvement.

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.