Progress in the diagnosis and treatment of short-limb inherited short stature patients with skeletal dysplasia / 国际儿科学杂志

ABSTRACT

Achondroplasia,hypochondroplasia and pseudoachondroplasia are all inherited skeletal system diseases resulting in short stature with short limbs.The clinical characteristics of the three diseases are similar and easily confused.In recent years,the genetic researches of the three diseases have made great progress,providing the basis for the diagnosis and differential diagnosis of the disease.In addition,the application of recombinant human growth hormone treatment in the three diseases also has taken the preliminary results.This article reviews the clinical features,identification,genetic analysis and growth hormone therapy of three disases.