PDF(Pubmed)
Abstract：
Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological centre of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the keywords: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and \"Turner syndrome\"; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its aetiology. The angular and linear cephalometric measurements differ from the measurements of the average normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusions: The greater part of the existing literature regarding cephalometric measurements in short-statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature should be the focus of future studies. These quantitative data are required to potentially establish cut-off values for reference for genetic testing based on craniofacial phenotypes.
摘要：
简介：过多的生物分子调节骨phy生长板中的软骨形成。这些分子的数量和功能的破坏可在临床上表现为各种病因的身高异常。传统上,生长激素/胰岛素样生长因子1(IGF1)轴代表最终达到身材的病因学中心.值得注意的是，对主导颅面复合体生长的分子事件及其与躯体身材的相关性知之甚少。目标：鉴于相关数据的匮乏，这篇综述讨论了关于侧位头颅造影作为儿童遗传矮小的潜在临床指标的潜在应用的现有信息。材料和方法：在PubMed电子数据库中进行了文献检索，使用关键词：头颅测量分析和矮小身材；头颅测量分析和软骨发育不全；头颅测量分析和骨骼异常；头颅和SHOX；头颅和CNP；头颅和ACAN；头颅和CNVs；头颅和CNVR3；头颅和IHometr*；和Fochnsyndes结果：在遗传综合征导致身材矮小的个体中，颅面复合体的线性生长受到限制，遵循躯体身材矮小的模式，无论其病因如何。角度和线性头颅测量值与普通正常人的测量值不同，并且暗示了颌骨的后部放置和面部的垂直生长方式。结论：现有文献中有关遗传综合征矮小儿童头颅测量的大部分提供了定性数据。此外，患有导致身材矮小的特定罕见遗传条件的个体的头颅测量数据应该是未来研究的重点。需要这些定量数据来潜在地建立基于颅面表型的遗传测试的参考截止值。
