根据国际《2023版遗传性骨病分类学》(Nosology of genetic skeletal disorders:2023 revision),目前已发现的遗传性骨病多达771种,涉及552个致病基因.遗传性骨病常伴发牙齿异常,因而牙齿异常的表型可能是疾病早期诊断的首要线索.但是,当临床上遇到罕见遗传性骨病患者时,许多口腔科医师可能因为没有掌握足够的遗传医学知识,故无法准确处理患者的牙齿异常.本文综述了伴发有4种牙齿异常表型(先天缺牙、牙萌出延迟、釉质发育不全和多生牙)的遗传性骨病,以期引起口腔科医师的重视,从而为患者提供最佳的牙科治疗方案.
Dental abnormalities in genetic skeletal disorders
According to"Nosology of Genetic Skeletal Disorders:2023 Revision",there are currently 771 genetic skeletal disorders that have been discovered,involving 552 pathogenic genes.Hereditary bone diseases are often accompanied by dental abnormalities,so the phenotype of dental abnormalities may be the primary clue for early diagnosis of these condi-tions.However,when patients with rare genetic skeletal disorders are encountered clinically,many dentists may not be able to accurately deal with the patient's dental abnormalities because they do not have sufficient knowledge of genetic medicine.Here,the genetic bone diseases associated with four types of dental abnormality phenotypes,i.e.congenital tooth agenesis,delayed tooth eruption,enamel hypoplasia,and supernumerary teeth,were reviewed in order to attract the attention of dentists and provide patients with the best dental treatment options.