Distinctive Vertebral Abnormalities in a Patient with VACTERL Association

Introduction

During embryogenesis, urorectal septal formation occurs around the same time that VATER association develops. Axial mesodermal dysplasia spectrum is thought to arise as a consequence of aberrant mesodermal migration during early development, resulting in bronchial, pulmonary, cardiovascular, gastrointestinal, renal, urogenital and skeletal abnormalities. Congenital vertebral defects that result from disruption of the induction and formation of the axial skeleton include, spondylocostal dysostosis, Jarcho-Levin syndrome, Klippel-Feil anomaly and a wide range of syndromic malformation complex such as VATER and VACTERL association (David A et al. Am J Med Genet 1996; 62: 1 – 5). VACTERL association is a well-known association of abnormalities including vertebral anomalies, anal atresia, tracheo-esophageal fistula, renal abnormalities and limb abnormalities. VACTERL association sometimes termed VATER association depending on the clinical criteria used for the diagnosis. VATER is used to describe the association of Vertebral defects, Anal atresia or stenosis, Tracheo-Esophageal fistula, Radial defects and Renal anomalies (Endoh N et al. Cogen Anoms 2003; 43: 180 – 183). Recently, VATER association and persistent cloaca have been proposed to represent a continuous spectrum of anomalies, but the pathophysiology concerning the continuity of the development and the clinical condition are still unclear (Mori M et al. Tohoku J Exp Med 2007; 213: 291 – 295). The importance of recognising the full extent of spinal abnormalities lies in pre-empting the complications that might ensue.