FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis
Authors: Dhiman Shalini , Panigrahi Inusha , Padhi Bijaya Kumar , Gupta Shifali , Satapathy Prakasini , Khatib Mahalaqua Nazli , Gaidhane Shilpa , Kaur Harvinder , Sharma Maryada , Zahiruddin Quazi Syed , Sah Ranjit , Kaur Karandeep , Garg Mahak 
Published: May 2024

Abstract

Background
This study aimed to compare the prevalence of craniofacial dysmorphisms, such as maxillary, mandibular, and dental arch dimensions, and cranial suture fusion in Apert and Crouzon syndrome patients from publicly available scientific information and to provide insights to improve the findings of further studies. Over a large-scale interval from January 2000 to January 2023, a comprehensive search was performed on different database platforms: PubMed, Google Scholar, Cochrane, Web of Science, and the Wiley online library. The preferred reporting item for Systematic Review and Meta-Analyses (PRISMA) guidelines were followed to conduct this systematic review. The protocol was submitted to the International Prospective Register of Systematic Reviews (CRC42023395454; https://www.crd.york.ac.uk/prospero/record_email.php) on 11 February 2023. We collected the data from different databases and ranked the publications based on their adherence to the Newcastle‒Ottawa Quality Assessment Scale. The meta-analysis was carried out by calculating the random effects model and pooled mean proportions with 95% confidence intervals (CIs).
Results
A total of 53 studies were considered worthy, but 39 were excluded due to unusable data formats. The meta-analysis was carried out by calculating the random effects model and pooled mean proportions with 95% confidence intervals (CIs). Patients with Apert syndrome were noted as having AS, and Crouzon syndrome was noted as having CS; different studies were included in the systematic review. A total of seven studies reported outcomes. The I2 index provides a better way of assessing effect size heterogeneity. Forest plots were generated to visualize the heterogeneity of the individual outcomes. Subgroup analyses were performed for each outcome to assess the potential differences in effect sizes. The effect size and heterogeneity of the dental arch were greater in the CS group (I2: 58%, 95% CI=0.01, 0.29; P=0.12) than in the AS group (I2: 52%, 95% CI=0.01, 0.27; P=0.15). Effect size and heterogeneity of the maxilla of AS patients (I2: 91%, 95% CI 0.09; 0.47, P<0.01) and CS patients (I2: 94%, 95% CI 0.07; 0.64, P<0.01). We observed significant heterogeneity in AS and CS patients.
Conclusion
This review demonstrated the large variation in cephalometric measurements between CS and AS patients. The CS patient had a smaller skull and mandible volume than the AS patient. The CS procedure did not change the maxillary intercanine width or intermolar width, but the maxillary intercanine width increased in patients with AS. With the growth period of the children, the maxillary and mandibular intercanine indices increased in the CS, whereas no change in mandibular or maxillary intercanine indices during the growth period was predicted in the AS. The anterior maxillary region is more affected in AS patients than in HCs but less affected in CS patients. ASs had an anterior crossbite (p<0.001), and CSs had an edge-to-edge bite (p<0.011). CSs tend to have short and flat cranial bases, smaller orbital volumes, and cleft palates.