An overview of the intraoral features and craniofacial morphology of growing and adult Japanese cleidocranial dysplasia subjects

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Summary

Background

Orthodontic treatment for cleidocranial dysplasia (CCD) requires an understanding of the nature of the retained deciduous teeth, supernumerary teeth, delayed eruption of the permanent teeth, and craniofacial morphology from childhood to adulthood. This study aimed to provide an overview of the intraoral and craniofacial characteristics of growing and adult Japanese CCD subjects.

Methods

We assessed cross-sectionally the intraoral features of 28 CCD subjects (males, 15.3 ± 7.0 years; females, 15.2 ± 5.1 years) using orthopantomograms and photographs. Mean facial diagrams (profilograms) of 3 age groups (5–10 years, 11–14 years, over 15 years: adult) were constructed, and linear and angular measurements of 2 age groups (under 15 years, adult) were performed by using cephalograms. The data were compared with Japanese standards.

Results

A mean of 11.7 and 8.4 retained deciduous teeth, 10.4 and 15.8 erupted permanent teeth were observed in the adult males and females, and a mean of 6.8 and 5.3 supernumerary teeth were observed in all males and females, respectively. A positive correlation was found between the number of supernumerary teeth and the age at initial visit. Cephalometric analysis showed an average to anteriorly positioned maxilla, a tendency for counter-clockwise rotation of the ramus, and a prognathic mandible in all groups.

Conclusions

The number of supernumerary teeth increased with age. The maxilla was average to anteriorly positioned, and the mandible was counter-clockwise rotated and prognathic for all groups. These characteristic craniofacial morphologies and changes of intraoral conditions at different ages in CCD patients should be considered when proposing rational orthodontic treatment plans.

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Most cited references 51

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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

S Mundlos, F Otto, C Mundlos … (1997)

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.

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This study examined the effects of different sample sizes and different levels of bias (systematic error) between replicated measurements on the accuracy of estimates of random error calculated using two common formulae: Dahlberg's and the 'method of moments' estimator (MME). Computer-based numerical simulations were used to generate clinically realistic measurements involving random errors with a known distribution. For each simulation, two sets of 'measured values' were generated to provide the replicated data necessary for the estimation of the random error. Dahlberg's and the MME formula were applied to these paired data sets and the resulting estimates of error compared with the 'true' error. Nine different sample sizes (n = 2, 5, 10, 15, 20, 25, 30, 50, and 100) and two different types of bias (additive and multiplicative) were examined for their effect on the estimated error. In each case, the estimates of the random error were based on the distribution of 5000 separate simulations. The results indicate that with a sample of less than 25-30 replicated measurements, the resulting estimates of error are potentially unreliable and may under or overestimate the true error, irrespective of the formula used in the calculation. Where, however, a bias exists between the replicate measurements, Dahlberg's formula can be expected to overestimate the true value of the random error even where the biases are small and difficult to detect by standard statistical tests. No such distorting effect was found for the MME formula, which provided estimates of error that were not meaningfully different from the true value even where relatively large biases existed between the replicates. These results suggest the following: 1. A sample of at least 25-30 cases should be replicated to provide an estimate of the random error. 2. Where the original study contains fewer than 20 cases, the estimate of error will be unreliable. In these circumstances, it would be helpful if a confidence interval for the true error was also quoted. 3. Unless one can be absolutely sure that no bias exists between the replicate measurements, Dahlberg's formula should be avoided and the MME formula used instead.