{Reference Type}: Journal Article
{Title}: VACTERL Association in Patients With Metopic Synostosis: Is There a Link?
{Author}: Deek R;Moore M;
{Journal}: J Craniofac Surg
{Volume}: 35
{Issue}: 4
{Year}: 2024 Jun 1
{Factor}: 1.172
{DOI}: 10.1097/SCS.0000000000010268
{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.