Journal article
Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy
Pediatric radiology, Vol.55(8), pp.1748-1754
07/2025
DOI: 10.1007/s00247-025-06281-8
PMCID: PMC12321905
PMID: 40481881
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.
Details
- Title: Subtitle
- Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy
- Creators
- Asha Sarma - Vanderbilt University Medical CenterLindsey A. Knake - University of IowaMarta Hernanz-Schulman - Vanderbilt University Medical CenterThomas Cassini - Vanderbilt University Medical CenterSumit Pruthi - Vanderbilt University Medical Center
- Resource Type
- Journal article
- Publication Details
- Pediatric radiology, Vol.55(8), pp.1748-1754
- DOI
- 10.1007/s00247-025-06281-8
- PMID
- 40481881
- PMCID
- PMC12321905
- NLM abbreviation
- Pediatr Radiol
- ISSN
- 0301-0449
- eISSN
- 1432-1998
- Publisher
- Springer Nature
- Number of pages
- 7
- Language
- English
- Electronic publication date
- 06/07/2025
- Date published
- 07/2025
- Academic Unit
- Stead Family Department of Pediatrics; Neonatology
- Record Identifier
- 9984832083202771
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