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遗传学与非综合征性面部生长

Genetics and non-syndromic facial growth.

作者信息

Hartsfield James K, Morford Lorri A, Otero Liliana M, Fardo David W

机构信息

Department of Oral Health Science, University of Kentucky College of Dentistry, Lexington, KY, USA.

Faculty of Dentistry, Pontificia University Javeriana, Bogotá, Colombia.

出版信息

J Pediatr Genet. 2013 Mar;2(1):9-20. doi: 10.3233/PGE-13041.

DOI:10.3233/PGE-13041
PMID:27625834
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5020952/
Abstract

Just as pediatricians and endocrinologists are interested in understanding statural growth patterns and the prediction of adult height, pediatric dentists, orthodontists, and oral/maxillofacial surgeons need to be knowledgeable about a patient's facial growth patterns to effectively treat them. Some variations in facial growth have been clinically associated with a poor esthetic self-image, malocclusion formation and the development of physical and/or functional deformity. To understand how different genetic factors influence growth and development patterns, scientists and clinicians study developmental sequences, malformations and syndromes. While understanding this general information can be clinically valuable when making treatment decisions for an individual and their family, the greatest contribution of genetics in clinical practice may be in the form of personalized or "precision" medicine in the general population. Precision medicine takes into account knowing a portion or all of a patient's specific DNA code to estimate how their genetic makeup will influence growth and development patterns. Ultimately, the identification of key genetic variations at the level of the individual patient can improve growth predictions for that patient and may be indicative of how well they will respond to specific forms of treatment.

摘要

正如儿科医生和内分泌学家关注了解身高增长模式及预测成人身高一样,儿科牙医、正畸医生以及口腔/颌面外科医生需要了解患者的面部生长模式,以便有效地进行治疗。面部生长的一些差异在临床上与不良的审美自我形象、错牙合畸形的形成以及身体和/或功能畸形的发展有关。为了了解不同的遗传因素如何影响生长和发育模式,科学家和临床医生研究发育序列、畸形和综合征。虽然在为个体及其家庭做出治疗决策时,了解这些一般信息在临床上可能很有价值,但遗传学在临床实践中的最大贡献可能是以普通人群中的个性化或“精准”医学的形式出现。精准医学考虑了解患者特定DNA编码的一部分或全部,以估计他们的基因构成将如何影响生长和发育模式。最终,在个体患者层面识别关键的基因变异可以改善对该患者的生长预测,并且可能表明他们对特定治疗形式的反应程度。