A Potential Association Bewteen Salivary Gland Hypofunction and Velocardiofacial Syndrome

In 1978, Shprintzen et al reported a syndrome of typical facies, prominent nasal tip, retruded mandible, cardiovascular anomalies, cleft palate and learning disabilities. The syndrome now known as velocardiofacial syndrome(VCFS), has been mapped to 22q11.2. Objectives: The investigators had noticed a high incidence of dental caries in children VCFS. The objectives of this pilot study were to test the following hypotheses. 1. Children with VCFS have a different pattern of tooth decay to children in the general population. 2. This pattern of tooth decay is related to reduced salivary function. Methods: Children with VCFS, whose details were recorded in the database of the Department of Clinical Genetics of CHW, were invited to partake in the study. The children had a routine dental examination and if cooperation permitted, sialometry testing was undertaken, using “Saliva Check” kits (GC Corporation). Results: 22 children were examined. The age range was 5 to 16 years, with a mean of 10.6. The mean DMFT was 3.9, with a range of 0-13. The mean dmft was 7.7, with a range of 0-20. 47% of children in the permanent dentition had lower incisor caries. Sialometry testing showed resting pH of unstimulated saliva to be moderately or highly acidic in 77% of subjects tested. Stimulated salivary volumes were low to very low in 83% and buffering capacity was low to very low in 58% of subjects. 6 children had scintiscans performed, which demonstrated markedly reduced salivary function, especially from the submandibular glands. Conclusion: The results of this pilot study show a significant proportion of children with VCFS demonstrate salivary hypofunction and high levels of dental caries. A larger collaborative study will be required to confirm these findings.