[A case of a syndrome characterized by short stature, and developmental delay caused by heterozygous variation in the FOXP4 gene].

Abstract excerpt

患儿 男，8岁4月龄，因“发现身高落后同龄儿5年余”就诊于河南中医药大学第一附属医院儿科医院，主要表现为言语延迟、身材矮小、行走姿势异常、脊柱侧弯和运动发育迟缓，生长激素激发试验示生长激素峰值>10 μg/L，影像学检查示脑垂体顶部膨隆，基因检测结果显示患儿有新发的FOXP4基因杂合性致病变异NM_001012426：c.1618G>A，P.E540K，与已报道的4个FOXP4错义变异均位于叉头DNA结合域上。FOXP4基因杂合变异与以言语延迟和生长发育障碍等临床表型有关。.

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