眼面心脏牙综合征 (OFCD):一个病例报告
Tung Thanh Nguyen1, Anh Thai Hoang Truong2, Vu Anh Hoang3
1Department of Maxillofacial Surgery and Dental, Franco-Vietnamese Hospital, Ho Chi Minh City, Vietnam. tung2.nguyen@fvhospital.com.
眼面心脏牙综合征 (OFCD) 是一种罕见的遗传疾病,在一名越南患者身上被发现. 这一案例突出显示了根茎巨作为OFCD的关键牙科指标,并引入了一种新的BCOR基因变异.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 牙科医学 牙科医学
背景情况:
- 眼面心脏牙综合征 (OFCD) 是一种罕见的X相关的主导性疾病.
- 它会影响眼睛,面部,心脏和牙结构.
- 已知的原因是BCOR基因中的遗传变异.
研究的目的:
- 报告越南首次记录的OFCD病例.
- 描述一种与OFCD相关的新型BCOR基因变异.
- 强调牙医在OFCD诊断中的作用.
主要方法:
- 对一名19岁的女性患者进行临床检查,该患者有OFCD症状.
- 牙特征的放射性评估,包括牙大.
- 基因分析以确定BCOR基因中的变异.
主要成果:
- 这位患者出现了牙异常,包括犬的根壮病.
- 观察到与OFCD一致的眼睛,面部和心脏特征.
- 在BCOR基因的11号内突中发现了一种新型的致病性异构缺失.
结论:
- OFCD综合征很少见,并且与BCOR基因变异有关.
- 根垂体大是OFCD的关键诊断标志物.
- 牙医的早期检测可以预防牙科并发症.
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