Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia that until now has only been reported in French Canadian individuals. We have recently identified an intragenic duplication in RUNX2, encompassing exons 3 to 5, as a cause of MDMHB in French Canadian families. Here we describe a 20-year-old Finnish woman who had typical clinical and radiological signs of MDMHB, the first reported individual with MDMHB who is not of French-Canadian origin. Copy number variant assays based on quantitative PCR of genomic DNA showed the presence of three copies within a part of RUNX2. Sequencing RUNX2 cDNA from the skin fibroblasts revealed a duplication of exons 3 to 5. The results demonstrated that the intronic breakpoints of the duplication differed from those previously found in the French Canadian family, but that the consequences on RUNX2 transcript were identical. These findings demonstrate that the MDMHB phenotype results from an intragenic duplication of RUNX2 exons 3 to 5 also outside of the community where the disorder was first identified.

The objective and subjective outcome of orthodontic care in one municipal health center.

OBJECTIVE: The aim of this study was to assess the outcome of orthodontic care in one municipal health center. MATERIALS AND METHODS: The material consisted of one age-cohort of 15-16 year-old adolescents (n = 67). Of them, 97% participated in a clinical examination. The final group included in the study consisted of 61 adolescents (91% of the whole age cohort). The occlusions were evaluated applying the Occlusal Morphology and Function Index (OMFI), the Dental Health Component (DHC) and the Aesthetic Component (AC) of the Index of Orthodontic Treatment Need (IOTN). Moreover, all adolescents filled in a semi-structured questionnaire enquiring about their satisfaction with the function and appearance of their own dentition and self-perceived orthodontic treatment need. They also scored their own dental appearance on a Visual Analog Scale (VAS). RESULTS: Of the adolescents, 42% had received orthodontic treatment, while 58% were untreated. All morphological criteria of the OMFI were met by 58% of orthodontically treated and 49% of untreated adolescents and all functional criteria by 67% and 57%, respectively. Treatment need was registered in two of the treated adolescents (7%) and five of the untreated adolescents (14%). Treated adolescents were more often satisfied with their dental appearance than untreated adolescents (p = 0.034). In both groups, satisfaction with the function was high (93%). CONCLUSIONS: Orthodontic treatment seems to improve both occlusal morphology and function. The high satisfaction with one's own dental appearance among the treated adolescents is worth noting.