부산대학교 도서관

Estephania Candelo,1– 3 Maria Alejandra Estrada-Mesa,4 Adriana Jaramillo,4 Carlos Humberto Martinez-Cajas,4 Julio Cesar Osorio,4 Harry Pachajoa1,2 1Congenital Abnormalities and Rare Disease Centre (CIACER), Cali, Colombia; 2Genetics Department, Fundacion Valle del Lili, Cali, Colombia; 3Centro de Investigaciones Clínicas, Fundacion Valle del Lili, Cali, Colombia; 4Institución Universitaria Colegios de Colombia (UNICOC), Cali, ColombiaCorrespondence: Estephania Candelo Email ecandelo@icesi.edu.coBackground: DiGeorge syndrome (DG) is a genetic disorder associated with 22q11 deletion. It involves various phenotypes, including craniofacial abnormalities, congenital heart disorders, endocrine dysfunction, cognitive deficits, and psychiatric disorders. Cases commonly involve multiple anomalies. However, little is known about the condition of the oral cavity in this disorder, although palate fissure, abnormal mandible, malocclusion, and tooth hypoplasia have been identified. We aimed to determine the odontological features of patients with 22q11.2 microdeletion, in relation to gingival health and oral hygiene. We report the systemic manifestations of nine patients and results of oral evaluation of two patients. In the oral examination, oral hygiene and gingivitis were evaluated.Case Presentation: In terms of the systemic manifestations, we found high frequencies of low weight and height at birth. In terms of the oral manifestations, both examined patients presented malocclusion, enamel hypoplasia, dental crowding, anodontia, and healthy periodontium.Conclusion: Although DG has been documented to involve periodontium disease, the patients in this study exhibited more dental manifestations such as enamel defects, misalignment between the teeth and the two dental arches, anodontia, and dental crowding. As such, a multidisciplinary approach combining dentistry and healthcare is recommended in this case.Keywords: DiGeorge syndrome 22q11.2 deletion, oral manifestations, facial dysmorphism, case report