190 - Enamel Defects and Systemic Findings in 22q11.2 Deletion Syndrome

Abstract: 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and is associated with a broad spectrum of systemic and craniofacial manifestations. Dental findings, including enamel hypoplasia and enamel hypomineralization, have been reported but not well studied. This study aimed to evaluate prevalence of enamel defects in patients with 22q11.2DS and identify associated systemic findings. A retrospective chart review was conducted of 102 patients with 22q11.2 deletion syndrome (22q11.2DS) being seen at the Children’s Hospital of Philadelphia. Data were collected from the 22q and You Clinic and the Craniofacial and Special Needs Orthodontics Clinic. Variables included 22q11.2 deletion subtype, presence and distribution of enamel hypoplasia, affected teeth, cardiac anomalies, hypocalcemia, immune dysfunction, and presence of dental caries.The cohort of 102 patients was 52% female and 48% male. Dental caries were present in 57% of patients. Enamel hypoplasia was identified in 18%. Among patients with enamel hypoplasia, 67% had cardiac anomalies, 44% had immune dysfunction, and 33% had hypocalcemia. Notably, 60% of all patients with a history of hypocalcemia presented with enamel defects. Chart review is still ongoing with an estimating cohort of 1600. These findings demonstrate high prevalence of systemic comorbidities among patients with enamel hypoplasia in the 22q11.2 deletion population. The observed relationship between hypocalcemia and enamel defects suggests metabolic disturbances may impact enamel development within this population. Early dental assessment and preventive care for children with 22q11.2DS, particularly those with a history of hypocalcemia, is important to manage the risk of enamel-related complications.



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