Revisiting
VACTERL
Association in Patients With Esophageal Atresia With an Emphasis on Skeletal Anomalies
Gonca Gercel, Ahmet Pirim, Sabriye Gulcin Bozbeyoglu, Sibel Sevuk Ozumut, Sinem Aydoner, Meltem Caglar, Cigdem Ulukaya Durakbasa ABSTRACT
Background
This study aimed to characterize VACTERL‐associated anomalies in patients with esophageal atresia (EA), with particular emphasis on skeletal anomalies.
Methods
168 EA patients were evaluated as those with a distal TEF (D‐TEF) (86.9%), those without D‐TEF (9.5%), and isolated TEF (3.6%). In the D‐TEF subgroup, a gap length of ≥ 4 vertebral‐body was defined as long‐gap EA (15.8%). Baseline neonatal chest and spine radiographs were reviewed using a standardized protocol.
Results
The mean gestational age was 36.41 ± 3.04 weeks. The mean birth weight was 2525.35 ± 728.52 g. Long‐gap D‐TEF patients had lower gestational age and birth weight ( p = 0.014 and p = 0.001, respectively). Vertebral, rib, renal, limb, and cardiac anomalies and anorectal malformations (ARM) were present in 17.9%, 14.9%, 19.6%, 9.5%, 38.1%, and 12.5%, respectively. Vertebral and rib anomalies were significantly associated ( p < 0.05). Exploratory analyses suggested differences in vertebral‐anomaly location across EA subtypes (nominal p = 0.038) and in limb‐anomaly frequency across anatomic EA subtypes (nominal p = 0.047). ARM was more frequent in long‐gap than short‐gap D‐TEF (30.4% vs. 8.9%; p = 0.010). It remained significant across sensitivity analyses using alternative gap‐length thresholds. VACTERL association was present in 25.0% of the cohort, without a significant association with anatomic subtype.
Conclusions
Skeletal anomalies were common across EA phenotypes with possible subtype‐related differences in their distribution. A standardized assessment on baseline radiographs may improve VACTERL phenotyping and provide a more accurate description of the musculoskeletal burden in patients with EA. The association between ARM and greater gap length in D‐TEF should be interpreted within the present cohort and the study‐specific gap‐length definition.