Exploring the clinical genetic characteristics and height for age growth curve of 210 patients with achondroplasia in China

Zhonghua er ke za zhi. Chinese journal of pediatrics
W Q DaiY G Yu

Abstract

Objective: To summarize the clinical manifestation and genetic characteristics of Chinese patients with achondroplasia (ACH) which is caused by pathogenic variants fibroblast growth factor receptor 3 (FGFR3) gene and establish the reference value of height centiles and height for age growth curve of patients for a more practical, simple and useful growth evaluation tool in China. Methods: Through a nationwide cross-sectional survey in China from July 2019 to January 2020 designed by Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, 210 subjects (110 boys, 100 girls), who harbored the pathogenic variant of FGFR3 gene and were diagnosed with achondroplasia, were recruited. The clinical and genetic data of enrolled subjects were collected and analyzed to explore the clinical genetic characteristics of Chinese ACH patients. Furthermore, according to the data of height (body length under 2 years old) of boy and girl subjects aged 0-12 years, centiles and height for age growth curve of achondroplasia were calculated and established by LMS method respectively. Results: The characteristic clinical manifestations of 210 Chinese patients (0-14 years old) were disproport...Continue Reading

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