Shape and Morphology of the Sella Turcica in Patients with Trisomy 21 - A Systematic Review

Sep 30, 2026

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The sella turcica (ST) is a key craniofacial and endocrinological landmark whose morphology reflects local skeletal development and systemic influences. Alterations in ST form have been reported in trisomy 21 (Down syndrome, DS). This systematic review evaluates distinctive morphometric features and shape variants of the ST in individuals with DS versus non-syndromic populations, and examines diagnostic and clinical relevance. Searches in major databases were conducted and PRISMA 2020 with PROSPERO registration applied; six studies met criteria.

LanguageEnglish

CategoryResearch & Report

FormatPDF

Pages11

Reading Time28 min

AccessFree to download

Abstract

1. Introduction

ST anatomy and clinical relevance

Imaging methods and classification frameworks

Down syndrome background

Study rationale and evidence gaps

Systematic Review Shape and Morphology of the Sella Turcica in Patients with Trisomy 21—A Systematic Review Magda Mazu´s 1, *, Agnieszka Szemraj-Folmer 2, Marcin Stasiak 2 and Michał Studniarek 1 Academic Editor: RamiR. Hallac Received: 14 November 2025 Revised: 8 December 2025 Accepted: 13 December 2025 Published: 21 December 2025 Copyright: © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license. 1 Department of Radiology, Faculty of Medicine, Medical University of Gdansk, 17 Smoluchowskiego Street, 80-210 Gdansk, Poland; [michal.studniarek@gumed.edu.pl](michal.studniarek@gumed.edu.pl) 2 Department of Conservative Dentistry, Faculty of Medicine, Medical University of Gdansk, M. Sklodowska-Curie 3c, 80-210 Gdansk, Poland; [agnieszka.szemraj-folmer@gumed.edu.pl](agnieszka.szemraj-folmer@gumed.edu.pl) (A.S.-F.); [marcin.stasiak@gumed.edu.pl](marcin.stasiak@gumed.edu.pl) (M.S.) * [Correspondence: magdamazus@gumed.edu.pl](Correspondence: magdamazus@gumed.edu.pl) Abstract Background/Objectives: The sella turcica (ST) is a central craniofacial and endocrinological landmark whose morphology reflects both local skeletal development and systemic influences. Alterations in its form have been observed in various genetic syndromes, including trisomy 21 (Down syndrome, DS). Considering the characteristic craniofacial morphology of DS, this review aimed to evaluate whether individuals with DS present distinctive morphometric features and shape variants of the ST compared with non-syndromic populationsand to discuss their diagnostic and clinical relevance. Methods: A systematic literature search was carried out in PubMed, the Cochrane Library, Web of Science, Wiley, MDPI, and Google Scholar on 8 May 2024 . Search terms included “sella turcica,”“Down syndrome,”and “morphology.” Studies employing lateral cephalograms, cone-beam computed tomography (CBCT), or computed tomography (CT) to assess ST morphology were included when quantitative or qualitative comparisons with control groups were available. The review followed the PRISMA 2020 guidelines and was prospectively registered in PROSPERO (CRD42024580071) . Results: Only six studies fulfilled the inclusion criteria. Increased ST dimensions and a predominance of U-shaped and J-shaped variants in individuals with DS compared with controls were most frequently reported. Although the studies differed in methodology, the findings consistently indicated characteristic enlargement and remodeling of the ST in trisomy 21 . Conclusions: Individuals with Down syndrome exhibit distinctive sella turcica morphology characterized by increased size and specific shape variants. The evidence base remains small and heterogeneous, with few observational studies and mixed age groups and imaging modalities, which limits the strength and generalizability of the conclusions. The present study aims to provide a modern, updated systematic review of current evidence on sella turcica morphology in patients with Down syndrome, to identify reported patterns of variation, and to explore their clinical and diagnostic significance. Recognition of these features enhances diagnostic accuracy incraniofacial evaluation, facilitates comprehensive orthodontic, endocrine, and oncological assessment, and advances understanding of cranial base development within the context of genetic syndromes. Keywords: sella turcica; trisomy 21; Down syndrome 1. Introduction The sella turcica (ST), a saddle-shaped depression in the sphenoid bone at the base of the skull, houses the pituitary gland and serves as a key anatomical landmark in craniofacial diagnostics [1,2] . In orthodontics, its clear visibility and stable position on lateral cephalometric radiographs make it a widely used reference point for evaluating craniofacial growth patterns and skeletal relationships [1] . A

FAQs

What is the purpose of this systematic review?

To assess whether individuals with Down syndrome show distinctive morphometric features and shape variants of the sella turcica compared with non-syndromic populations, and to discuss their diagnostic and clinical relevance.

How were studies selected and what guideline was followed?

The review used a systematic literature search across major databases and followed PRISMA 2020 guidelines, with prospective registration in PROSPERO.

What main morphological differences were reported for patients with trisomy 21?

The included studies most frequently reported increased ST dimensions and a predominance of U-shaped and J-shaped variants in individuals with trisomy 21 compared with controls.

Sep 30, 2026

Upload by Jacob