Li Li, Xiong Feng
Department of Endocrinology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing 400014, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Mar 15;27(3):262-268. doi: 10.7499/j.issn.1008-8830.2410107.
Achondroplasia (ACH) is a common skeletal dysplasia in children, primarily caused by mutations in the fibroblast growth factor receptor 3 () gene. These mutations disrupt the process of endochondral ossification in different types of bones, including long bones of the limbs and vertebrae. Children with ACH typically present with short stature and may experience severe multi-system complications. The diagnosis of ACH is based on typical clinical manifestations, imaging features, and genetic testing results. Treatment options mainly include pharmacological interventions and surgical procedures aimed at improving height, as well as symptomatic management for associated complications. This article discusses both prenatal and clinical diagnostic approaches for ACH, as well as treatment strategies focused on enhancing height, aiming to deepen the understanding of this condition.
软骨发育不全（ACH）是儿童常见的骨骼发育异常，主要由成纤维细胞生长因子受体3（）基因突变引起。这些突变扰乱了不同类型骨骼的软骨内成骨过程，包括四肢长骨和椎骨。ACH患儿通常表现为身材矮小，并可能出现严重的多系统并发症。ACH的诊断基于典型的临床表现、影像学特征和基因检测结果。治疗选择主要包括旨在改善身高的药物干预和外科手术，以及对相关并发症的对症处理。本文讨论了ACH的产前和临床诊断方法，以及旨在增加身高的治疗策略，旨在加深对这种疾病的理解。
