摘要
目的:分析1例Rieger综合征的典型家系病例,对临床医师认识和诊断这一与口腔发育异常密切相关的罕见遗传病提供线索和信息。方法:对1例Rieger综合征患者进行家系调查,对家系成员进行临床检查、修复治疗和表型分析。结果:临床诊断1例Rieger综合征病例家系,显示常染色体显性的遗传方式,该综合征可导致严重的上颌骨发育不足和多数恒牙先天缺失。结论:Rieger综合征是导致先天牙齿缺失的重要遗传性疾病之一,由于修复治疗的需要,可能对口腔医师在这一疾病的发现和诊断中起到重要作用。
Objective: To provide information on cognition and diagnosis of Rieger syndrome, a rare hereditary disorder that includes severe craniofacial and dental abnormalities. Methods: Clinical investigation, prosthetic treatment and pedigree analysis were made to a Chinese kindred of Rieger syndrome. Results: Rieger syndrome is inherited as an autosomal dominant condition. All the affected members represent severe maxillary hypoplasia and hypodontia associated with other systemic abnormalities. Conclusions: Rieger syndrome is one of the most important inherited disorders causing hypodontia and dentists may play a key role in cognition and diagnosis of this syndrome.
出处
《口腔颌面修复学杂志》
2003年第1期30-32,共3页
Chinese Journal of Prosthodontics
基金
北京大学疾病基因研究中心资助课题(209440303)
