患儿，男，因早产后呼吸困难12 min收入重症监护室诊治。产前胎儿心脏超声提示室间隔完整型大动脉转位，经羊水穿刺及家系全外显子组测序，检出SOX11基因杂合错义变异（c.152G>C，p.Arg51Pro），诊断为Coffin⁃Siris综合征9型。出生后经心脏彩超及电子计算机断层扫描血管造影检查发现先天性心脏畸形，确诊为Berry综合征，接受一期矫治手术后恢复良好。该文首次报道Coffin⁃Siris综合征9型合并Berry综合征的患儿，发现了未报道的SOX11基因变异位点，扩展了该基因的致病表型谱，提示该基因可能参与心血管发育的调控，为遗传咨询和产前诊断提供了重要依据。对于携带SOX11变异的胎儿，需加强心血管系统评估，以早期识别Berry综合征等严重畸形。

A male infant was admitted to the neonatal intensive care unit for respiratory distress 12 minutes after preterm birth. Prenatal fetal echocardiography suggested transposition of the great arteries with an intact ventricular septum. Amniocentesis and family-based whole-exome sequencing identified a heterozygous missense variant in SOX11 (c.152G>C, p.Arg51Pro), leading to a diagnosis of Coffin-Siris syndrome type 9. Postnatal echocardiography and computed tomography angiography confirmed Berry syndrome. Single-stage corrective surgery was performed with good recovery. This report presents the first documented case of Coffin-Siris syndrome type 9 complicated by Berry syndrome and identifies a previously unreported SOX11 variant, expanding the pathogenic phenotypic spectrum associated with this gene and suggesting its potential role in regulating cardiovascular development. These findings provide important evidence for genetic counseling and prenatal diagnosis and indicate that enhanced cardiovascular evaluation is warranted for fetuses carrying SOX11 variants to enable early identification of severe malformations such as Berry syndrome.