A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs

We present two siblings, one male and one female, who have heart defects, d uplication of toes, airway anomalies, and aganglionosis. The brother also h as a bilateral complete cleft lip and palate. His airway anomalies include short epiglottis and aryepiglottic folds, which are different from his sist er who has a bifid epiglottis with a central epiglottic mass. Both siblings have had some developmental delay. This constellation of anomalies appears to be unique and may represent a new autosomal recessive disorder.