目的:探讨2例KBG综合征(Keishi-Bukuryo-Gan syndrome，KBGS)患儿临床表现的性别差异。方法:分析2例不同性别KBGS患儿的临床表现，应用二代测序进行基因检测，总结治疗并随访预后。结果:2例患儿均有特殊体貌：巨齿、毛发分布异常、手部改变等，存在语言发育落后，基因测序结果证实n ANKRD11基因致病性变异，分别自第635位赖氨酸和第1638位脯氨酸开始发生移码，为c.1903_1907del和c.4911delT。女性患儿合并中枢性性早熟，使用亮丙瑞林治疗23个月联合重组人生长激素治疗1个月，身高增长13 cm，性征回退。n 结论:对比2例不同性别的患儿并总结既往病例报道，发现男性KBGS的特殊面容(三角脸、连眉、眼距宽)以及椎体异常较女性明显，癫痫、智力障碍、自闭症、先天性心脏病、免疫性血小板减少症等并发症的发病率均高于女性。男性常累及多系统，女性更需早期识别特殊体貌，避免漏诊，改善预后。“,”Objective:To explore gender difference in the clinical manifestations of two children with Keishi-Bukuryo-Gan syndrome (KBGS).Methods:Clinical manifestations of the two children were reviewed. Genetic testing was carried out through next-generation sequencing (NGS). Treatment was summarized, and the prognosis was followed up.Results:Both children showed particular appearance including megatooth, abnormal hair distribution, hands’ abnormality and language development delay.NGS revealed that both children have carried pathogenic variants of the n ANKRD11 gene (c.1903_1907del and c. 4911delT), which resulted in shifting of amino acid sequences starting from the Lysine and Proline at positions 635 and 1638, respectively. The female patient exhibited central precocious puberty.Her height has increased by 13 cm, and sex characteristics has retracted after treatment with leuprorelin for 23 months and recombinant human growth hormone for 1 month.n Conclusion:Comparison of the two cases with different genders and summary of previously reported cases found that male KBGS patients have more obvious dysmorphisms such as triangular face, synophrys, ocular hypertelorism and vertebral body abnormality, with higher morbidity of epilepsy, mental retardation, autism, congenital heart disease, immune thrombocytopenia and other complications. KBGS is an autosomal dominant disease featuring more evident peculiar appearance and global development delay. Male patients often have multi-system involvement, and multidisciplinary cooperation is required for early recognition of particular features in order to improve the prognosis.