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Results. Patients with >5 peripheral affected joints showed significantly more sonographically diagnosed destructive changes in the TMJ than did patients with <5 affected joints. There was no significance between the number of affected peripheral joints and disc dislocation in the closed-mouth position. In the maximum open-mouth position, there was a significant correlation between the number of affected peripheral joints and disc dislocation. Patients with a JIA duration >23 months had a significantly higher rate of disc dislocation and destructive changes. Patients with a JIA duration >60 months had a significantly higher rate of destructive changes of the TMJ than patients with a disease duration <60 months, but no statistical significance was found concerning disc dislocation. Conclusion. The significant correlation between pathologic sonographic findings, duration of JIA, and the number of affected peripheral joints make the technique interesting for use as a diagnostic screening method.

A multifactorial aetiology with genetic and environmental factors is assumed for orofacial clefts. Submucous cleft palate (SMCP), a subgroup of cleft palates with insufficient median fusion of the muscles of the soft palate hidden under the mucosa, has a prevalence of 1:1,250-1:5,000. We described the prevalence of risk factors among 103 German patients with the subtype SMCP and genotyped 24 single nucleotide polymorphisms (SNPs) from 12 candidate genes for orofacial clefts. Analysis of risk factors yielded a positive history for maternal cigarette smoking during pregnancy in 25.2% of the patients, and this was significantly more frequent than in the normal population. The group of patients differed in allele frequencies at SNP rs3917192 of the gene TGFB3 (nominal P = 0.053) and at SNP rs5752638 of the gene MN1 (nominal P = 0.075) compared with 279 control individuals. Our results indicate a potential role of maternal smoking during pregnancy for the formation of SMCP. The analysis of genetic variants hints at the contribution of TGFB3 and MN1 in the aetiology of SMCPs.

Family history indicates some specificity of cleft types. The observed phenotype-genotype associations were compatible with this interpretation in that significant associations occurred with disjoint sets of genes in each cleft type. These observations indicate that CL, CLP, CP, and SMCP might represent genetically different entities.

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