Abstract：
VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified.
摘要：
VACTERL关联是基于6种先天性畸形中至少3种的非随机共存而诊断的。患病率被认为小于1/10,000至1/40,000。文献中没有已知的VACTERL关联与异位骨膜之间的联系。从1999年到2023年，我们机构有122例手术的异位性骨膜炎病例，男女比例为2.3：1。作者描述了3例没有可识别的遗传变异的女性患者中VACTERL关联和异位性突触的同时发生。鉴于VACTERL关联是一种排除诊断，其他罕见综合征被考虑,但最终被排除.这表明VACTERL关联和异位性骨膜炎的同时出现是一个潜在的罕见发现，和潜在的致病变异还有待鉴定。
