Abstract：
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.
摘要：
软骨发育不全,最常见的骨骼发育不良,其特点是各种医疗，整个生命周期的功能和心理挑战。这种情况是由常见的，经常性的,编码成纤维细胞生长因子受体3的基因FGFR3的功能获得突变。这种突变导致人类骨骼的软骨内骨化受损。软骨发育不全的临床和影像学标志使大多数患者能够准确诊断。然而,临床医师对患有这种疾病的儿童和成人实施的临床护理路径和方案存在显著差异.来自16个国家和5大洲的55名国际专家组成的小组制定了共识声明和建议，旨在抓住每个主要生命阶段和亚专业领域的软骨发育不全的关键挑战和最佳管理。使用修改后的Delphi过程。第一份国际共识声明的主要目的是促进全世界儿童和成人软骨发育不全的护理的改进和标准化，以优化其临床结果和生活质量。
