Progress in the diagnosis and treatment of short-limb inherited short stature patients with skeletal dysplasia
10.3760/cma.j.issn.1673-4408.2013.04.019
- VernacularTitle:短肢型遗传性骨代谢性疾病的诊治进展
- Author:
Fang LI
- Publication Type:Journal Article
- Keywords:
Achondroplasia;
Hypochondroplasia;
Pseudoachondroplasia;
Differential Diagnosis;
Gene;
Recombinant human growth hormone
- From:
International Journal of Pediatrics
2013;40(4):395-398
- CountryChina
- Language:Chinese
-
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.
