Abstract
OBJECTIVES: To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for future research. METHODS: PubMed, Embase and Cochrane databases as well as Grey literature were electronically searched. Inclusion criteria were patients with genetic syndromes with craniofacial manifestations and three-dimensional imaging of facial soft and/or hard tissues. Exclusion criteria consisted of non-syndromic conditions or conditions owing to environmental causes, injury or trauma, facial soft and hard tissues not included in the image analysis, case reports, reviews, opinion articles. No restrictions were made for patients' ethnicity nor age, publication language or publication date. Study quality was evaluated using the Methodological Index for Non-Randomized Studies (MINORS). RESULTS: The search yielded 2228 citations of which 116 were assessed in detail and 60 were eventually included in this review. Studies showed a large heterogeneity in study design, sample size and patient age. An increase was observed in the amount of studies with time, and the imaging method most often used was CT. The most studied craniofacial syndromes were Treacher Collins, Crouzon and Apert syndrome. The articles could be divided into three main groups: diagnostic studies (34/60, 57%), evaluation of surgical outcomes (21/60, 35%) and evaluation of imaging techniques (5/60, 8%). For comparative studies, the median MINORS score was 13 (12-15, 25-75th percentile), and for non-comparative studies, the median MINORS score was 8 (7-9, 25-75th percentile). CONCLUSIONS: The median MINORS scores were only 50 and 54% of the maximum scores and there was a lack of prospective, controlled trials with sufficiently large study groups. To improve the quality of future studies in this domain and given the low incidence of craniofacial syndromes, more prospective multicentre controlled trials should be set up.