The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

被引:0
|
作者
Candelo, Estephania [1 ,2 ,3 ]
Alejandra Estrada-Mesa, Maria [4 ]
Jaramillo, Adriana [4 ]
Humberto Martinez-Cajas, Carlos [4 ]
Cesar Osorio, Julio [4 ]
Pachajoa, Harry [1 ,2 ]
机构
[1] Congenital Abnormal & Rare Dis Ctr CIACER, Cali, Colombia
[2] Fdn Valle Lili, Genet Dept, Cali, Colombia
[3] Fdn Valle Lili, Ctr Invest Clin, Cali, Colombia
[4] Inst Univ Colegios Colombia UNICOC, Cali, Colombia
来源
APPLICATION OF CLINICAL GENETICS | 2021年 / 14卷
关键词
DiGeorge syndrome 22q11.2 deletion; oral manifestations; facial dysmorphism; case report; DELETION SYNDROME; CLINICAL-FEATURES; TBX1; PREVALENCE; PHARYNGEAL; ENAMEL; MANAGEMENT; PHENOTYPE; SPECTRUM; DEFECTS;
D O I
10.2147/TACG.S280066
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: 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.
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收藏
页码:267 / 277
页数:11
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