摘要Aarskog-Scott综合征是一种罕见病，典型表现为特殊面容、矮小、性腺发育不良及骨骼畸形等。本文报道1例男性患儿，初次就诊年龄为3岁6个月，主因"发现身高增长缓慢3年"就诊。围生期正常。智力运动发育大致正常。身长90 cm(<第3百分位，－3 SD)，特殊面容，关节过伸，双手短粗，脚趾球形。披肩样阴囊，左侧隐睾。FGD1基因第9～12外显子存在1.1 Mb缺失变异，来源于母亲，符合Aarskog-Scott综合征的诊断。患儿自5岁起开始重组人生长激素治疗，治疗18个月，身高增长17 cm，无明显不良反应。当矮小患者同时伴有特殊面容、骨骼畸型及性腺发育不良三联征时，应考虑Aarskog-Scott综合征的可能。

abstractsAarskog-Scott syndrome is an orphan disease, the typical manifestations include special facial feature, short stature, genital anomalies and skeletal dysplasia. We reported a male patient, three years six months old, admitted because of slow growth in height for 3 years. His stature was 90 cm(<P3, -3 SD). He presented special facial features, hyperextensible joints, brachydactyly, a shawl scrotum, and left cryptorchidism. He was found to have a genomic deletion (1.1 Mb) involving exons 9 to 12 in the FGD1 gene inherited by his mother. The patient met the clinical diagnostic criteria of the Aarskog-Scott syndrome. He was given growth hormone treatment from 5 years old, found 17 cm growth within 18 months. There was no adverse event of growth hormone therapy. This reminds us when a short patient showing a facial-digital-genital triad signs, Aarskog-Scott syndrome should be considered.