Abstract：
Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.
摘要：
软骨发育不全是一种常染色体显性遗传病，代表人类骨骼发育不良的最常见形式：几乎所有患有软骨发育不全的个体都在成纤维细胞生长因子受体3型（FGFR3）基因中具有可识别的突变。这种状况的主要特征及其遗传已经得到了很好的确立，但是喂养和营养并发症的发生并不突出。在婴儿期,枕骨孔狭窄引起的松弛和神经损伤可能会损害软骨发育不全新生儿的喂养功能。随着成长,喂养技能的最佳发展可能会受到面部中部发育不全之间的可变相互作用的影响，睡眠呼吸暂停障碍，和结构异常。前开咬合,下颌骨,颌后上颌骨,和相对的巨眼可能会对咀嚼和呼吸功能产生不利影响。软骨发育不全患者进餐时间的独立性通常比同龄人晚。营养摄入的早期监督应进入青春期和成年期，因为肥胖和呼吸系统疾病的风险增加，以及由此产生的后遗症。由于多系统的参与，口腔运动障碍，营养,和胃肠道问题需要特别关注和个性化管理，以促进最佳结果，特别是由于软骨发育不全的新颖治疗选择，这可能会改变这种罕见疾病的进展。
