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Prosthodontic treatment of developmental age patients presents a significant challenge to the dentist. The growth and development of the stomatognathic system must be considered in treatment planning. Temporary prosthetic restorations must be regularly inspected and recemented, and final prosthetic restoration should not be delivered until the growth of the body is complete. In addition, due to the complex nature of morphological and functional disorders during the developmental period, simultaneous prosthetic and orthodontic treatment may be required. The case presented in this article is a 16-year-old boy with severe tooth destruction caused by untreated caries disease and poor oral hygiene. The patient required conservative, endodontic, and surgical treatment to restore the occlusion and aesthetics to allow the proper development of the masticatory organ. This article also presents the treatment case of a young patient with damaged crowns in the upper arch, which were restored with standard root–crown posts and cores and temporary 3D-printed composite crowns. [ABSTRACT FROM AUTHOR]

Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole‐exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right‐sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30‐fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole‐genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion. [ABSTRACT FROM AUTHOR]

Objective: The etiology of non‐syndromic cleft lip with or without cleft palate (nsCL/P) is multifactorial, heterogeneous, and still not completely understood. The aim of the present study was to examine the associations between common and rare PAX7 nucleotide variants and the risk of this common congenital anomaly in a Polish population. Subjects and methods: Eight top nsCL/P‐associated PAX7 variants identified in our cleft genome‐wide association study (GWAS) were selected for replication analysis in an independent group of patients and controls (n = 247 and n = 445, respectively). In addition, mutation screening of the PAX7 protein‐coding region was conducted. Results: Analysis of the pooled data from the GWAS and replication study confirmed that common PAX7 nucleotide variants are significantly associated with the increased risk of nsCL/P. The strongest individual variant was rs1339062 (c.586 + 15617T > C) with a p‐value = 2.47E−05 (OR = 1.4, 95%CI: 1.20–1.64). Sequencing analysis identified a novel synonymous PAX7 substitution (c.87G > A, p.Val29Val) in a single patient with nsCLP. This transition located in the early exonic position was predicted to disrupt potential splice enhancer elements. Conclusion: Our study confirmed that PAX7 is a strong candidate gene for nsCL/P. Nucleotide variants of this gene contribute to the etiology of nsCL/P in the homogenous Polish population. [ABSTRACT FROM AUTHOR]

Introduction. Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common developmental anomaly, which etiology is complex and not completely elucidated. Therefore, the aim of the present study was to evaluate whether common polymorphisms in the distal-less homeobox gene 1 (DLX1) may contribute to the risk of orofacial clefts in the Polish population. Material and methods. Five single nucleotide variants were genotyped using high-resolution melting curve analysis in a group of 278 patients with NSCL/P and properly matched controls (n = 574). Results. Statistical analysis revealed that two variants located in the 3' untranslated region of DLX1, rs788172 and rs788173, were associated with a decreased risk of NSCL/P (ptrend = 0.041 and ptrend = 0.025, respectively). The allelic frequencies for these polymorphisms were significantly lower in patients compared to healthy individuals (p = 0.040 and p = 0.024, respectively). However, all these results did not remain statistically significant after applying the Bonferroni correction for multiple comparisons. The results of single-marker analysis for DLX1 were confirmed by haplotype analysis. The best evidence of the haplotype association with the risk of NSCL/P was observed for the T-G-G haplotype consisting of rs1047889, rs788172 and rs788173 major alleles. This high risk haplotype was more frequent among cases than controls (p = 0.013, pcorrected = 0.026). Conclusions. We found evidence for the association between DLX1 gene variants and the risk of NSCL/P in the Polish population. To confirm our preliminary findings further, larger sample size studies are required. [ABSTRACT FROM AUTHOR]

BACKGROUND Non-syndromic cleft lip and palate (CLP) is one of the most common birth defects. Recent genome-wide association studies (GWAS) have identified several novel risk loci associated with this craniofacial anomaly. Therefore, the objective of this report was to investigate the contribution of the top seven polymorphisms reaching genome-wide statistical significance in GWAS analyses in the Polish population. METHODS and RESULTS Nucleotide variants located at chromosomal regions 1p22.1, 10q25.3, 17q22, and 20q12 were tested in a group of 206 patients with nonsyndromic CLP and a properly matched control group. Significant results, which persisted even after Bonferroni correction ( p < 0.0071), were observed for polymorphisms located at 10q25.3 (rs7078160 and rs4752028) and 17q22 (rs227731). Under a recessive model, both rs7078160 and rs4752028 were associated with a greater than fourfold increase in the risk of CLP (odds ratio [OR] = 4.536; 95% confidence interval [CI], 1.678-12.265; p = 0.0012 and OR = 4.573; 95% CI, 1.817-11.512; p = 0.0004, respectively). Polymorphism rs227731 increased the risk of CLP when analyzed under a dominant model (OR = 1.732; 95% CI, 0.184-2.253; p = 0.0044). Borderline association was alsoidentified for the 1p22.1 locus (rs481931). Moreover, 10q25.3 haplotypes were significantly associated with a susceptibility to CLP. CONCLUSION Our evaluation study confirmed a substantial association of polymorphisms located at chromosomal regions 10q25.3 and 17q22 with nonsyndromic CLP in the Polish population. Birth Defects Research (Part A), 2012. © 2011 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

PAX9 is a paired domain transcription factor that plays a critical role in odontogenesis. All mutations of PAX9 identified to date have been associated with nonsyndromic form of tooth agenesis. The present report describes an unusual novel mutation in PAX9 identified in a family with severe molar oligodontia. This heterozygous deletion combined with 24 bp insertion (including a 5′ splice site) is localized in the second exon beyond the highly conserved paired box sequence, and might result either in a premature termination of translation at aa 210 or in an aberrant splicing, leading to a frameshift and premature termination of translation at aa 314. Real-time PCR analysis revealed no mutated transcript in cultured lymphocytes of one of the affected individuals indicating that the novel mutation might result in rapid degradation of the mutated transcript leading to haploinsufficiency of PAX9. Our results support the view that mutations in PAX9 constitute a causative factor in nonsyndromic oligodontia.European Journal of Human Genetics (2006) 14, 173–179. doi:10.1038/sj.ejhg.5201536; published online 7 December 2005 [ABSTRACT FROM AUTHOR]