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

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 r..