Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency

VATER association (192350) is an acronym for a combination of malformations including vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia. Braddock (2003) described 2 sisters with a seemingly distinct multiple malformation syndrome with VATER-like defects. The features of the syndrome included vertebral defects, cardiac abnormalities, pulmonary hypertension, laryngeal webs, blue sclerae, and persistent growth deficiency. Autosomal recessive inheritance was proposed.