Dental Phenotypes And Diagnostic Strategies Of OS-CS

The study aims to comprehensively characterize the dental phenotypes in patients with osteopathia striata with cranial sclerosis (OS-CS), and to further guide diagnosis and management for improved patient outcomes. Based on dental examination, radiographic findings, and genetic testing, a diagnosis of OS-CS was confirmed in a patient with characteristic dental phenotypes after 16 years follow-up and treatment. A comprehensive literature search using multiple terms was conducted to identify reported OS-CS cases with oral phenotypes. By analyzing this case and those in the literature, the dental features of OS-CS patients were summarized and characterized, and corresponding diagnostic strategies and clinical management were proposed. In this study, a female patient with dental malalignment was comprehensively evaluated and finally diagnosed with osteopathia striata with cranial sclerosis (OS-CS) caused by a novel frameshift mutation in the AMER1 gene, and a variety of dental phenotypes were also identified. Analysis of 74 OS-CS cases with oral phenotypes reported since 2009 revealed highly heterogeneous dental manifestations, including malocclusion, retained deciduous teeth, impacted permanent teeth, supernumerary teeth, carious lesions, and root resorption. Genetic testing contributed to the diagnosis of OS-CS, and the clinical management for OS-CS patients involves oral multidisciplinary treatment. The dental phenotypes in patients with OS-CS are often underrecognized. A comprehensive understanding of the diverse dental manifestations is essential to offer critical clues for clinical diagnosis. When integrated with systemic skeletal findings and genetic testing, this approach would facilitate early diagnosis and support effective multidisciplinary management.