Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?

We report on two Dutch sibs with external anomalies compatible with Bartsocas-Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients.