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

## TL;DR

This paper reports a rare case of duplicated pituitary gland with unusual thoracoabdominal abnormalities, expanding the known features of this syndrome.

## Contribution

The paper presents previously unreported thoracoabdominal anomalies in duplicated pituitary gland plus syndrome.

## Key findings

- The case includes anomalies in the lungs, heart, liver, spleen, and abdominal vasculature.
- These findings suggest possible involvement of axial mesodermal signaling and ciliopathy in the syndrome's etiology.

## 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.