AI Article Synopsis
- The authors studied 26 neonates diagnosed with VACTERL association, finding a majority of cases were male and presenting various combinations of defects.
- The most common anomalies included vertebral defects, anal atresia, and tracheo-esophageal fistula, with 58% experiencing renal issues and 50% having limb abnormalities.
- The research highlights the influence of both genetic susceptibility and environmental factors on the occurrence of VACTERL association, despite its generally sporadic nature.
Article Abstract
In this series the authors evaluate clinical, cytogenetic, environmental and inheritance characteristics of neonates with VACTERL association. Twenty-six patients were diagnosed with VACTERL association and had a normal somatometric profile. Fifty-eight percent cases were males. The frequency of each component was: vertebral defects (V), 77 %; anal atresia (A), 62 %; tracheo-esophageal fistula/esophageal atresia (TEF/EA), 58 %; renal anomalies (R), 58 %; limb abnormalities (L), 50 %, and cardiac malformations (C), 42 %. The most frequent combination was VAR (n = 3). Sixteen patients had non-VACTERL anomalies such as bilateral cryptorchidism (n = 4). Two probands (8 %) had first or second-degree relatives with two components. Five patients (19 %) had environmental factors that interacted with occurrence of VACTERL association. All patients had a normal karyotype. This study contributes to a better characterization of VACTERL phenotype in neonatal period. In spite of predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in VACTERL association.
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