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Abstract：
OBJECTIVE: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Although the craniofacial features have been well described and can aid in clinical diagnosis, the dental phenotypes have not been analysed in detail for each of the RASopathies. In this review, we summarize the clinical features of the RASopathies, highlighting the reported craniofacial and dental findings.
METHODS: Review of the literature.
RESULTS: Each of the RASopathies reviewed, caused by mutations in genes that encode different proteins in the Ras pathway, have unique and overlapping craniofacial and dental characteristics.
CONCLUSIONS: Careful description of craniofacial and dental features of the RASopathies can provide information for dental clinicians treating these individuals and can also give insight into the role of Ras signalling in craniofacial development.
METHODS: Review of the literature.
RESULTS: Each of the RASopathies reviewed, caused by mutations in genes that encode different proteins in the Ras pathway, have unique and overlapping craniofacial and dental characteristics.
CONCLUSIONS: Careful description of craniofacial and dental features of the RASopathies can provide information for dental clinicians treating these individuals and can also give insight into the role of Ras signalling in craniofacial development.
摘要：
目的：放射病是一组在编码Ras/丝裂原活化蛋白激酶（MAPK）途径成分的基因中具有常见种系突变的综合征，并已成为研究的重点，以了解该途径在发育和疾病中的作用。这些综合征包括努南综合征（NS），Noonan综合征伴多个腹水（NSML或LEOPARD综合征），神经纤维瘤病1型（NF1），科斯特洛综合征（CS），心-面-皮（CFC）综合征，神经纤维瘤病1型综合征（NFLS或Legius综合征）和毛细血管畸形-动静脉畸形综合征（CM-AVM）。这些疾病影响多个系统，包括颅面复合体.尽管颅面特征已经得到了很好的描述，可以帮助临床诊断，牙齿表型尚未详细分析的每一种放射病。在这次审查中,我们总结了放射病的临床特征，突出报告的颅面和牙齿发现。
方法：文献综述。
结果：回顾了每种RASopathies，由Ras途径中编码不同蛋白质的基因突变引起的，具有独特和重叠的颅面和牙齿特征。
结论：仔细描述RASopathies的颅面和牙齿特征可以为治疗这些个体的牙科临床医生提供信息，也可以深入了解Ras信号在颅面发育中的作用。
方法：文献综述。
结果：回顾了每种RASopathies，由Ras途径中编码不同蛋白质的基因突变引起的，具有独特和重叠的颅面和牙齿特征。
结论：仔细描述RASopathies的颅面和牙齿特征可以为治疗这些个体的牙科临床医生提供信息，也可以深入了解Ras信号在颅面发育中的作用。
