Medical and dental characteristics of children with chromosome 22q11.2 deletion syndrome at the Royal Children's Hospital, Melbourne.

BACKGROUND

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a multifaceted syndrome with a variable phenotype. Few studies have described the associated dental characteristics and their relationship with medical co-morbidities; and no Australian data exist.

AIM

To determine the clinical manifestations and correlations between oral and medical conditions in children with 22q11.2DS.

DESIGN

A retrospective observational study. Children genetically diagnosed with 22q11.2DS at the Royal Children's Hospital Melbourne were selected; their medical and dental characteristics were collated and analysed.

RESULTS

The study population (n = 57; mean age 11.5 years, range 2-27 years) experienced a range of medical conditions involving multiple medical systems; of whom 44 (77.2%) had caries experience, 7 (12.3%) developmentally missing teeth, and 31 (54.4%) developmental defects of enamel (DDE). Smaller proportions of primary teeth were affected by DDE in children with congenital heart disease (2.2% vs 9.7%; P = .02), and cardiac surgery (0.2% vs 9%; P = .001). Conversely, children with hypoparathyroidism (n = 2) had significantly higher proportions of primary teeth affected by DDE (27.5% vs 4%; P = .02).

CONCLUSIONS

Significant associations existed between medical conditions (congenital heart disease, history of cardiac surgery, and hypoparathyroidism) and primary dentition DDE in children with 22q11.2 DS.