Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations.

中文翻译：

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食管闭锁患者的婴儿肥厚性幽门狭窄。

出生时食管闭锁 (EA) 的患者患婴儿肥厚性幽门狭窄 (IHPS) 的发生率较高，这表明存在相关性。从发育的角度来看，共同的病因是有意义的，因为两个受影响的结构都是前肠衍生的。两种情况的遗传成分都被描述为单一实体，而 EA 和 IHPS 是几种单基因综合征中的可变成分。我们假设干扰前肠形态发生的缺陷是造成这种畸形组合的原因。