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 y, range 2-27 y) 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=0.02), and cardiac surgery (0.2% vs. 9%; p=0.001). Conversely, children with hypoparathyroidism (n=2) had significantly higher proportions of primary teeth affected by DDE (27.5% vs. 4%; p=0.02). 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.