Abstract

The aim of this study was to evaluate the craniofacial cephalometric characteristics of individuals with Down syndrome (DS), comparing them with healthy subjects. An electronic search was made in Pubmed, Embase, Lilacs, Scopus, Medline and Web of Science without imposing limitations on publication date or language. Studies were selecting following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. The PECO acronym was applied as follows: P (population), individuals with DS; E, (exposition) diagnosis of DS; C (comparison), individuals without DS; O (outcomes) craniofacial characteristics based on cephalometric measurements. Independent reviewers performed data extraction and assessed the methodological quality of the articles using the Newcastle–Ottawa Quality-Assessment-scale. Seven case–control studies were included in meta-analysis. Given the variability of the cephalometric measurements used, only those that had been reported in at least three or more works could be included. Anterior cranial base length (SN), posterior cranial base length (SBa), total cranial base length (BaN), effective length of the maxilla (CoA), sagittal relationship between subspinale and supramentale (ANB), anterior facial height (NMe), and posterior facial height (SGo) values were significantly lower in the DS population than among control subjects. No significant differences were found in sagittal position of subspinale relative to cranial base (SNA) and sagittal position of supramentale relative to cranial base (SNB). Summarizing, individuals with DS present a shorter and flatter cranial base than the general population, an upper jaw of reduced sagittal dimension, as well as a tendency toward prognatic profile, with the medium third of the face flattened and a reduced anterior and posterior facial heights.

Highlights

  • The aim of this study was to evaluate the craniofacial cephalometric characteristics of individuals with Down syndrome (DS), comparing them with healthy subjects

  • PECO was applied as follows: P, individuals with DS; E, clinical or genetic diagnosis of DS; C, individuals without DS; O, craniofacial characteristics of DS evaluated by means of lateral cephalometric measurements derived from the analysis of lateral teleradiographs of the head

  • The present findings show that the difference in measurement between DS cases and control subjects was more acute in the 5–22 year age range

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Summary

Introduction

The aim of this study was to evaluate the craniofacial cephalometric characteristics of individuals with Down syndrome (DS), comparing them with healthy subjects. The PECO acronym was applied as follows: P (population), individuals with DS; E, (exposition) diagnosis of DS; C (comparison), individuals without DS; O (outcomes) craniofacial characteristics based on cephalometric measurements. In 1866, John Langdon Haydon Down first described the characteristics presented by individuals with ­DS1. This syndrome has a prevalence that ranges between 1 per 800–1200 live ­births[2]. The prevalence of agenesis (excluding third molars) is higher than among healthy individuals, present in approximately 54.6–58.5% of subjects with ­DS12. The craniofacial characteristics of individuals with DS have been described in various studies, but to date no systematic review of published research has been conducted.

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