软骨发育不全的诊断与治疗。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-06-02 DOI:10.3760/cma.j.cn112140-20230314-00180

Y G Yu

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[Diagnosis and treatment of achondroplasia].

软骨发育不全（ACH）是1种导致儿童致死致残性生长发育障碍性疾患的罕见病，主要临床表现为四肢短小、大头畸形、颅面部异常以及三叉手畸形等，相关并发症包括椎管狭窄、胸腰椎后凸、膝内翻、睡眠呼吸暂停、肥胖和中耳炎等。ACH的疾病特性决定了对该疾病需要进行多学科、长时程的临床管理。本文将结合国内外指南，从临床诊断及产前诊断、多学科综合管理及最新治疗进展等方面进行系统的阐述。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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