目的 White-Sutton综合征（WHSUS）是一种表型差异极大的单基因遗传病，本研究旨在进一步扩展WHSUS的临床表型谱，并探讨潜在改善症状的治疗方法。方法 回顾性分析2018年7月至2023年2月就诊于上海儿童医学中心的4例WHSUS患儿的临床资料。结果 4例患儿首诊年龄范围为1~9岁，男2例、女2例，均有语言及运动发育落后。例1，女，表现为既往未报道过的临床表型，即脊髓栓系综合征（TCS），同时患有胰岛素抵抗。例2，女，因身材矮小和学习成绩差就诊，患儿接受了3.5年的生长激素治疗，随访至12岁1个月时，身高为152 cm（P₅₀），月经正常。例3，男，因语言发育迟缓就诊。例4，男，语言发育迟缓且有孤独症谱系障碍倾向。此4例均存在POGZ基因新生变异，诊断为WHSUS。结论 本研究详细报道了4例WHSUS患者的临床特征，扩展了WHSUS的表型谱。同时，首次报道了WHSUS伴身材矮小患儿应用生长激素的治疗尝试，为此类疾病的对症治疗提供了新的思路。

Objective White-Sutton syndrome (WHSUS) is a monogenic genetic disorder with significant phenotypic differences. This study aims to further expand the clinical phenotypic spectrum of WHSUS and explore potential treatment methods for improving symptoms. Methods A retrospective analysis was conducted on the clinical data of four WHSUS patients who visited Children's Medical Center from July 2018 to February 2023. Results The age range of the first diagnosis of the 4 patients was 1-9 years old, 2 boys and 2 girls, all of whom had delayed language and motor development. Patient 1, a girl, exhibited a previously unreported clinical phenotype, tethered cord syndrome (TCS), and concurrent insulin resistance. Patient 2, a girl, visited the doctor due to short stature and poor academic performance. She received growth hormone treatment for 3.5 years. At the age of 12 years and 1 month during the follow-up, her height was 152 cm (P₅₀), and her menstruation was normal. Patient 3, a boy, was treated for delayed language development. Patient 4 was a boy with delayed language development and autistic tendency. All four patients had de novo mutations in the POGZ gene and were diagnosed with WHSUS. Conclusions This study detailedly reported the clinical features of 4 patients with WHSUS, expanding the phenotypic spectrum of WHSUS. Meanwhile, it was the first to report the treatment attempt of growth hormone for a child with WHSUS and short stature, providing a new idea for the symptomatic treatment of this kind of disease.