A Novel AMER1 Mutation Causing OS-CS and the Oral Manifestations

Objectives: Osteopathia striata with cranial sclerosis (OS-CS) is a rare X-linked dominant disorder usually caused by AMER1 mutations, with an estimated prevalence of approximately 1 in 100,000 individuals. To date, no systematic characterization of oral manifestations in OS-CS patients was reported. The present study aims to analyze and characterize the oral manifestations of OS-CS patients, and to provide insights into the oral phenotypes of OS-CS to guide clinical management and improve patient outcomes.
Methods: Based on clinical presentation, radiographic features, and genetic testing, a diagnosis of OS-CS was finally confirmed in a patient with characteristic oral phenotypes after 16 years of follow-up and treatment. A comprehensive literature retrieval was conducted using various search terms to identify reported OS-CS cases with oral phenotypes. By analyzing the present case and those documented in the literature, the oral phenotypes of OS-CS patients were summarized and characterized, and maxillofacial clinical management strategies were proposed accordingly.
Results: This study presented a detailed 16-year follow-up treatment culminating in the diagnosis on a female patient with OS-CS and revealed a novel AMER1 frameshift mutation as well as the novel oral phenotypes. 74 cases of OS-CS patients (including the present case) with oral phenotypes were reported since 2009. The oral phenotypes in OS-CS patients were found to be highly diverse. The most prevalent issues included orofacial clefts (73%), micrognathia (27%), malocclusions (23%), and high-arched palate (15%). The maxillofacial clinical management for OS-CS patients involves oral multidisciplinary treatment.
Conclusions: Oral phenotypes are often ignored in OS-CS patients. A comprehensive understanding of oral phenotypes would facilitate early diagnosis, support the development of integrated treatment strategies, and improve patient outcomes.