Abstract: 【Abstract】 Objective To explore the clinical characteristics of children with hypochondroplasia (HCH) and the gene variation of fibroblast growth factor receptor 3 (FGFR3). Method The clinical data, genetictest results and the therapeutic effect of recombinant human growth hormone (rhGH) in 7 children withHCH admitted to the First Affiliated Hospital of Air Force Military Medical University from January 2015 to October 2021 were analyzed retrospectively. Result The initial average age of the 7 children with HCH was (6.4±2.7) years (3.1-9.7 years) , the average height standard deviation score was -3.22±1.22 (-1.2--4.9), and the upper part/lower part ratio was 1.28±0.13 (1.10-1.52). The average treatment time for rhGH was (4.4±1.2) years (3.1-6.0 years) , the average age after treatment was (10.8±2.1) years (6.9-12.8 years), and the average height standard deviation score was -1.73±1.32 (-3.4-0.2). The upper part/lower part ratio was 1.13±0.14 (0.98-1.38). The clinical manifestations of HCH included disproportionate short stature (7/7, 100%), limitation of elbow extension (2/7, 28.6%), lumbar lordosis (2/7, 28.6%), mildknee varus (2/7, 28.6%), forehead bulge with relatively normal facies (1/7, 14.3%). Radiological featuresof HCH included shortening of long bones with mild metaphyseal expansion (4/7, 57.1%), narrowing of theinferior lumbar interpedicular distances (1/7, 14.3%), and short and broad femoral neck (1/7, 14.3%), squarehip bone and flat acetabular top (1/7, 14.3%), and the ischial notch becomes smaller (1/7, 14.3%). There werepathogenic variants of FGFR3 gene in 7 cases, 4 cases were variants of FGFR3 gene c.1620C>A(p.Asn540Lys);3 cases were variants of FGFR3 gene c.1620C>G(p.Asn540Lys). Conclusion Seven cases were hotspotvariations of FGFR3 gene p.Asn540Lys. The clinical characteristics of HCH are relatively mild, andit is necessary to strengthen the understanding and screening of infants and young children. Thetreatment of rhGH for children with HCH was effective.
陶东英 张惠琴 张静静 牛焕红 成胜权. 软骨发育低下患儿的临床特征及FGFR3基因变异分析[J]. 发育医学电子杂志, 2024, 12(3): 193-198.
Tao Dongying, Zhang Huiqin, Zhang Jingjing, et al. Clinical characteristics of children with hypochondroplasia and analysis of FGFR3 gene variation. Journal of Developmental Medicine(Electronic Version), 2024, 12(3): 193-198.
2024, Vol. 12 
