Clinical Manifestations and Dental Management in a Pediatric Patient with Chromosome 22q11.2 Deletion Syndrome: A Case Report
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Abstract
Objective: This report aims to describe the orofacial and dental manifestations, along with the comprehensive dental management, in a child diagnosed with 22q11.2 DS.
Case Presentation: A 4-year-old girl presented with multiple congenital anomalies, including complex cyanotic congenital heart disease, dysmorphic craniofacial features, bilateral complete cleft lip and palate, and anovestibular fistula. The patient also exhibited hypotonia, feeding and swallowing difficulties, hearing loss, hypernasal speech, and global developmental delay. The patient had previously undergone several major surgical interventions as part of her multidisciplinary management. Clinical and radiographic examinations revealed multiple extensively carious teeth consistent with severe early childhood caries, along with malformation and agenesis of several developing permanent teeth. Owing to the patient’s limited ability to cooperate, significant medical comorbidities, and extensive dental treatment needs, comprehensive oral rehabilitation under general anesthesia was provided. The procedure was completed successfully; however, the patient experienced a prolonged postoperative recovery. Following treatment, she was scheduled for regular dental and medical follow-up visits to ensure ongoing preventive care, monitoring, and long-term management.
Conclusion: Patients with 22q11.2 DS commonly have multiple underlying medical conditions and are at increased risk for orofacial anomalies and oral diseases. Dental care should begin early and be maintained throughout the patient's life. Successful management requires a collaborative, multidisciplinary approach involving specialized medical and dental professionals, supported by informed and engaged caregivers, to achieve optimal oral health and improve overall quality of life for these patients.
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