VACTERL Association in Patients With Metopic Synostosis: Is There a Link?
J Craniofac Surg
; 35(4): e399-e401, 2024 Jun 01.
Article
de En
| MEDLINE
| ID: mdl-38722317
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 2.31 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.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Canal anal
/
Trachée
/
Anomalies morphologiques congénitales des membres
/
Craniosynostoses
/
Oesophage
/
Cardiopathies congénitales
Limites:
Female
/
Humans
/
Infant
/
Male
Langue:
En
Journal:
J Craniofac Surg
Sujet du journal:
ODONTOLOGIA
Année:
2024
Type de document:
Article
Pays d'affiliation:
Australie