Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy

Abstract

Duplication of the pituitary gland is a rare anomaly with variable associated craniofacial malformations (duplicated pituitary gland plus syndrome). Thus far, malformations have only been reported in the craniofacial structures, central nervous system (CNS), and spine. This report illustrates a severe case with additional, previously unreported body features including anomalies of the lungs, heart, liver, spleen, and abdominal vasculature. A description of this case will aid in comprehensive diagnosis of anomalies in patients with duplicated pituitary gland plus syndrome. Moreover, this case may improve understanding of the etiology of this rare disorder and its embryological underpinnings.