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  • Title: Medical and dental characteristics of children with chromosome 22q11.2 deletion syndrome at the Royal Children's Hospital, Melbourne.
    Author: Wong DH, Rajan S, Hallett KB, Manton DJ.
    Journal: Int J Paediatr Dent; 2021 Nov; 31(6):682-690. PubMed ID: 33222329.
    Abstract:
    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.
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