Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association

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.