Abstract：
A term male baby was born vaginally to a primi mother. An antenatal ultrasound revealed polyhydramnios and a distended stomach in the baby. At birth, the baby had well-defined areas of peeling skin on the face and blisters on the forearm region. The abdominal X-ray revealed a single gastric bubble, which is consistent with pyloric atresia and needs surgery. Pyloroplasty was initially performed, but it was unsuccessful. Therefore, a feeding jejunostomy and gastrostomy were performed. However, the baby developed sepsis and septic shock and died at about 2 months of age. Skin biopsy revealed cleavage above the lamina densa, and genetic analysis indicated heterozygosity in ITGB4 exons 10 and 16, which are associated with epidermolysis bullosa junctionalis and pyloric atresia.
摘要：
一个学期的男婴是由一个原始母亲阴道出生的。产前超声检查显示婴儿羊水过多和胃扩张。出生时,婴儿面部有明确的脱皮区域，前臂区域有水泡。腹部X光显示只有一个胃泡,这与幽门闭锁一致，需要手术。最初进行了幽门成形术，但没有成功.因此,进行了饲用空肠造口术和胃造口术。然而,婴儿出现败血症和脓毒性休克，并在大约2个月大时死亡。皮肤活检显示致密层上方有裂隙，遗传分析表明，ITGB4外显子10和16的杂合性与大疱性表皮松解症和幽门闭锁有关。
