Radiographic Analysis of Craniofacial Skeletal Structures in Patients with Neurofibromatosis Type 1

Abstract

Introduction: Neurofibromatosis type 1 (NF1, also known as von Recklinghausen's disease) is a genetic disorder with an autosomal dominant pattern of inheritance affecting the skin, skeletal, and neural tissues. A defect in the NF1 gene results in a hyperactive Ras pathway, which can in turn activate a variety of signaling pathways in a broad range of cells and tissue types. The purpose of the study was to examine cephalometric radiographs to assess craniofacial morphology of NF1 patients. Methods: A total of 74 Caucasian adult patients with NF1, and their age and gender matched controls, were selected for the study. Cephalometric radiographs were obtained for all subjects and traced in the Dolphin Software. Sixteen (16) cephalometric (linear and angular) measurements reflecting the dimensions of the cranial base, maxilla, mandible, and vertical facial heights were collected and analyzed. Results: The results showed that patients with NF1 had shorter mandible, shorter maxilla, shorter cranial base, and shorter anterior face compared with healthy controls. The length of the mandible, anterior and posterior facial heights, ramal height and the anterior cranial base correlated with the height of NF1 patients. Conclusion: In conclusion, the NF1 gene influences the growth of craniofacial bones, thus contributing to the characteristic facial morphology in NF1.