关键词: DiGeorge syndrome 22q11.2 deletion case report facial dysmorphism oral manifestations

来  源:   DOI:10.2147/TACG.S280066   PDF(Pubmed)

Abstract:
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要:
DiGeorge综合征(DG)是一种与22q11缺失相关的遗传性疾病。它涉及各种表型,包括颅面异常,先天性心脏病,内分泌功能障碍,认知缺陷,和精神疾病。案件通常涉及多个异常。然而,对这种疾病的口腔状况知之甚少,虽然腭裂,下颌骨异常,错牙合,牙齿发育不全已被确认.我们旨在确定22q11.2微缺失患者的牙齿学特征,与牙龈健康和口腔卫生有关。我们报告了9例患者的全身表现和2例患者的口头评估结果。在口试中,评估口腔卫生和牙龈炎。
在系统表现方面,我们发现出生时低体重和低身高的频率很高。就口腔表现而言,两名接受检查的患者都出现了错牙合现象,釉质发育不全,牙齿拥挤,无牙齿,和健康的牙周组织。
尽管DG已被证明与牙周病有关,这项研究中的患者表现出更多的牙齿表现,如牙釉质缺陷,牙齿和两个牙弓之间的错位,无牙齿,牙齿拥挤。因此,在这种情况下,建议采用将牙科和医疗保健相结合的多学科方法。
公众号