PDF(Pubmed)
Abstract：
This clinical case report details the comprehensive diagnosis and dental management of a seven-year-old female patient diagnosed with the rare genetic disorder, amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). The case initially presented as congenital adrenal hyperplasia and amelogenesis imperfecta, but further genetic analysis revealed the involvement of AIGFS due to a mutation in the FAM20A gene. Diagnosis, confirmed through whole exome sequencing, clinical assessment, and laboratory tests, necessitated a multidisciplinary approach to address the treatment of such cases. The article underscores the critical importance of diagnosing and managing dental manifestations in pediatric patients with complex genetic conditions, highlighting the difficulties of treating AIGFS in mixed dentition. This case also highlights the indispensable role of pediatric dentists in diagnosing and treating these cases, ultimately improving the quality of life for individuals with AIGFS.
摘要：
这份临床病例报告详细介绍了一名被诊断患有罕见遗传病的7岁女性患者的综合诊断和牙科管理，牙釉质发育不全和牙龈纤维瘤病综合征（AIGFS）。该病例最初表现为先天性肾上腺增生和牙釉质不全症，但进一步的遗传分析显示，由于FAM20A基因突变，AIGFS参与。诊断,通过全外显子组测序证实，临床评估,和实验室测试，需要采取多学科方法来解决此类案件的治疗。这篇文章强调了诊断和管理患有复杂遗传疾病的儿科患者的牙齿表现的至关重要性。突出了在混合牙列中治疗AIGFS的困难。这个案例也突出了儿科牙医在诊断和治疗这些病例中不可或缺的作用,最终提高AIGFS患者的生活质量。
