VACTERL Association in Patients With Metopic Synostosis: Is There a Link?

J Craniofac Surg. 2024 Jun 1;35(4):e399-e401. doi: 10.1097/SCS.0000000000010268. Epub 2024 May 9.

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.

Publication types

  • Case Reports

MeSH terms

  • Anal Canal* / abnormalities
  • Anal Canal* / surgery
  • Craniosynostoses* / complications
  • Craniosynostoses* / genetics
  • Craniosynostoses* / surgery
  • Esophagus* / abnormalities
  • Esophagus* / surgery
  • Female
  • Heart Defects, Congenital* / surgery
  • Humans
  • Infant
  • Kidney / abnormalities
  • Limb Deformities, Congenital* / genetics
  • Male
  • Spine / abnormalities
  • Trachea* / abnormalities
  • Trachea* / surgery

Supplementary concepts

  • VACTERL association