患儿1，男，生后3 h，因呼吸困难就诊，肌张力低下，呈呼吸机依赖，基因检测示DMPK基因CTG重复扩增（13/>83）。患儿2，男，生后2 d，因窒息复苏后就诊，伴肌张力低下与呼吸机依赖，且合并缺氧缺血性脑病及膈膨升（国内首次报道该合并症），基因检测示DMPK基因CTG重复扩增（12/>83）。2例均确诊为先天性强直性肌营养不良1型。先天性强直性肌营养不良1型为罕见重症遗传病，生存率低，临床出现特征性表现时需尽早进行基因检测及家系咨询，以指导再生育，减少出生缺陷。

Patient 1 was a male neonate who, at 3 hours of life, presented with respiratory distress, hypotonia, and ventilator dependence. Genetic testing revealed a DMPK gene CTG repeat expansion (13/>83). Patient 2 was a male neonate who presented at 2 days of life after resuscitation for perinatal asphyxia, with hypotonia and ventilator dependence, complicated by hypoxic-ischemic encephalopathy and diaphragmatic eventration, which appears to represent the first such combination reported in China. Genetic testing showed a DMPK gene CTG repeat expansion (12/>83). Both cases were diagnosed with congenital myotonic dystrophy type 1. Congenital myotonic dystrophy type 1 is a rare and severe genetic disorder with low survival. When characteristic clinical manifestations appear, genetic testing and family counseling should be performed as early as possible to guide future pregnancies and reduce birth defects.