患儿，男，5岁3个月，临床表现为智力障碍、孤独症谱系障碍、身材矮小、长耳、耳廓大、鼻尖宽、尖下巴和隐睾，全外显子组测序显示患儿KDM3B基因存在c.5147T>C（p.Leu1716Pro）新发可能致病性杂合错义变异，该患儿诊断为Diets⁃Jongmans综合征。该例报道进一步丰富了Diets⁃Jongmans综合征的基因变异谱，提示早期进行基因检测有助于发育迟缓或智力障碍、孤独症谱系障碍及身材矮小患儿明确病因。

A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism. Whole-exome sequencing revealed a de novo likely pathogenic heterozygous missense variant in KDM3B (c.5147T>C, p.Leu1716Pro), supporting a diagnosis of Diets‑Jongmans syndrome. This case further enriches the mutation spectrum of Diets‑Jongmans syndrome and suggests that early genetic testing helps clarify the etiology in children with developmental delay or intellectual disability, autism spectrum disorder, and short stature.