Purpose: In depth assessment of VACTERL association focusing on skeletal anomalies in esophageal atresia (EA) patients.
Method: 168 EA patients were evaluated as those without a distal fistula (D-TEF), namely Types A and B (9.5%, n=16), those with a D-TEF, namely Types C and D (86.9%, n=146), and Type E (3.6%, n=6). D-TEF patients were subdivided into short-gap (84.2%, n=123) and long-gap (gap length ≥4 vertebrae, 15.8%, n=23) atresias. A single radiologist retrospectively reviewed the radiographs by a standardized protocol.
Results: There were 93 males (55.4%) and 75 females (44.6%). Mean gestational age and birth weight were 36.63±3.07 (28-41) weeks and 2528.17±730.11 g (849-4300), respectively. Long-gap D-TEF patients had lower gestational age and birth weight (p=0.014 and p=0.001). Vertebral anomalies were present in 17.9%, rib anomalies in 14.9%, renal anomalies in 19.8%, limb anomalies in 9.5%, and cardiac anomalies in 38.1% (28.1% were major). There was a significant correlation between vertebral and rib anomalies (p<0.05), and between vertebral anomaly location and EA subtype (p<0.05). 100% of vertebral anomalies were lumbosacral in Type E, 60.0% were combined in Types A and B, and 58.3% were cervicothoracic in Types C and D. Limb anomalies were present in 25% of in Types A and B, and 7.5% of Types C and D, with a significant association between limb anomalies and EA subtype (p=0.047). Anorectal malformations (ARM) were present in 12.5% and more frequent in long-gap D-TEF patients (30.4%, p=0.010). ARM was identified as an independent predictor of long-gap EA (OR=4.455, p=0.007). VACTERL association was observed in 25.6% of patients, without an association with EA type (p=0.211). Overall mortality was 13%, significantly higher in long-gap D-TEF patients (45.5%, p<0.001).
Conclusion: Skeletal anomalies are common in all EA types. Limb anomalies are more frequently observed in Types A and B, whereas cervicothoracic vertebral anomalies predominated in Types C and D, highlighting subtype-specific patterns. A long-gap atresia in D-TEF patients is associated with lower gestational age, lower birth weight, higher ARM prevalence, and increased mortality. Although typically non-lethal, skeletal anomalies may affect long-term function and quality of life. Thus, a standardized screening should be an essential part of evaluation.
Keywords: Esophageal atresia, associated anomalies, rib anomalies, vertebral anomalies, limb anomalies, VACTERL
Anahtar Kelimeler: