Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor 2 (FGFR-2). Numerous findings from animal studies imply a critical role for FGFRs in the regulation of skeletal development. Here, we report 2 unrelated patients with Crouzon syndrome accompanied by elbow deformity. Subsequently, we analyzed the sequence of the FGFR2 gene and found that both of the patients carried the Cys342Arg mutation. The findings suggest that the C342R mutation in FGFR2 may cause Crouzon syndrome and elbow deformity in Chinese patients.

For most facial disharmony with or without occlusal dysfunction, skeleton-first surgery is a feasible strategy.

Crouzon is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of mineralization. Here, we presented a 5-year-old girl with severe meningeal calcification. Subsequently, we analyzed FGFR2 mutation and identified a mutation of Cys342Tyr. The findings suggest that abnormal calcification was atypical phenotype of Crouzon patients with Cys342Tyr mutation in FGFR2.

BackgroundClinical probing is commonly recommended to evaluate peri‐implant conditions. In a situation of peri‐implant mucositis or peri‐implantitis, the peri‐implant seal healing from the disruption of soft tissue caused by probing has not yet been studied. This study aimed to investigate soft tissue healing after standardized clinical probing around osseointegrated implants with peri‐implant mucositis in a dog model.MethodsThree transmucosal implants in each hemi‐mandible of 6 dogs randomly assigned to the peri‐implant healthy group or peri‐implant mucositis group were probed randomly in the mesial or distal site as probing groups (PH or PM), the cross‐sectional opposite sites as unprobed control groups. Histomorphometric measurements of implant shoulder (IS)‐alveolar bone contact to the implant surface (BCI), apical termination of the junctional epithelium (aJE)‐BCI, mucosal margin (MM)‐BCI, and MM‐aJE were performed at 1 day, 1 week and 2 weeks after probing. Apoptosis, proliferation, proinflammatory cytokines, and matrix metalloproteinases (MMPs) of peri‐implant soft tissue were estimated by immunofluorescent analysis.ResultsIn PM group, apical migration of junctional epithelium was revealed by significantly decreased aJE‐BCI from 1 day to 2 weeks in comparison to unprobed sites (P<0.05), while no significant differences were found in PH group. Immunofluorescent analysis showed higher levels of interleukin 1β (IL‐1β), IL‐6, tumor necrosis factor α (TNF‐α), MMP‐1, and MMP‐8, together with exaggerated apoptosis and proliferation of peri‐implant soft tissue in PM group.ConclusionWithin the limitations, standardized clinical probing might lead to apical migration of the junctional epithelium in a situation of peri‐implant mucositis.This article is protected by copyright. All rights reserved

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.