Genetic testing has deciphered new molecular mechanisms that govern growth and confirm rare genetic disorders with short stature. This reiterates the need for a judicious clinical approach in children with short stature that should be substantiated with genetic testing for a confirmatory diagnosis. Targeted gene panels for genes involved with hormones and growth axis are helpful. Similarly, targeted gene testing for skeletal dysplasia in the presence of a clinical gestalt provides a confirmatory diagnosis. Next generation deep resequencing methods have their place in the diagnostic toolkit, as does exploring the whole exome for novel mutations in both known and unknown genes related to growth. However, caution should be exercised to avoid an injudicious array of molecular investigations that may not be rewarding and may instead add to the anxiety of the clinician and the family.

基因测试破译了控制生长的新分子机制，并确认了罕见的身材矮小遗传性疾病。这重申了对身材矮小儿童采取明智的临床方法的必要性，并应通过基因检测来证实诊断。与激素和生长轴相关的基因的靶向基因组很有帮助。同样，在存在临床格式塔的情况下对骨骼发育不良进行靶向基因检测可提供确诊。下一代深度重测序方法在诊断工具包中占有一席之地，就像探索整个外显子组中与生长相关的已知和未知基因的新突变一样。然而，应谨慎行事，避免一系列不明智的分子研究，这些研究可能不会有任何回报，反而可能会增加临床医生和家人的焦虑。