【摘要】 特发性矮身材是一组尚未明确病因，具有高度异质性的儿童身材矮小的统称。随分子诊断技术的发展，越来越多的特发性矮身材因内在遗传病因明确而脱离特发性矮身材的诊断。了解特发性矮身材的遗传学机制进展，有助于开拓临床医生的诊疗思路。更多还原

【Abstract】 Idiopathic short stature is a diagnosis for a group of highly heterogeneous short stature in children with unclear etiology. With the progress of molecular diagnostic technology,more and more idiopathic short stature are excluded due to the identification of genetic causes. Understanding the genetic mechanism of idiopathic short stature is helpful to the diagnosis and treatment in clinical practice.更多还原